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Keywords = non-histologic diagnosis

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21 pages, 14138 KiB  
Case Report
Multi-Level Oncological Management of a Rare, Combined Mediastinal Tumor: A Case Report
by Vasileios Theocharidis, Thomas Rallis, Apostolos Gogakos, Dimitrios Paliouras, Achilleas Lazopoulos, Meropi Koutourini, Myrto Tzinevi, Aikaterini Vildiridi, Prokopios Dimopoulos, Dimitrios Kasarakis, Panagiotis Kousidis, Anastasia Nikolaidou, Paraskevas Vrochidis, Maria Mironidou-Tzouveleki and Nikolaos Barbetakis
Curr. Oncol. 2025, 32(8), 423; https://doi.org/10.3390/curroncol32080423 - 28 Jul 2025
Viewed by 444
Abstract
Malignant mediastinal tumors are a group representing some of the most demanding oncological challenges for early, multi-level, and successful management. The timely identification of any suspicious clinical symptomatology is urgent in achieving an accurate, staged histological diagnosis, in order to follow up with [...] Read more.
Malignant mediastinal tumors are a group representing some of the most demanding oncological challenges for early, multi-level, and successful management. The timely identification of any suspicious clinical symptomatology is urgent in achieving an accurate, staged histological diagnosis, in order to follow up with an equally detailed medical therapeutic plan (interventional or not) and determine the principal goals regarding efficient overall treatment in these patients. We report a case of a 24-year-old male patient with an incident-free prior medical history. An initial chest X-ray was performed after the patient reported short-term, consistent moderate chest pain symptomatology, early work fatigue, and shortness of breath. The following imaging procedures (chest CT, PET-CT) indicated the presence of an anterior mediastinal mass (meas. ~11 cm × 10 cm × 13 cm, SUV: 8.7), applying additional pressure upon both right heart chambers. The Alpha-Fetoprotein (aFP) blood levels had exceeded at least 50 times their normal range. Two consecutive diagnostic attempts with non-specific histological results, a negative-for-malignancy fine-needle aspiration biopsy (FNA-biopsy), and an additional tumor biopsy, performed via mini anterior (R) thoracotomy with “suspicious” cellular gatherings, were performed elsewhere. After admission to our department, an (R) Video-Assisted Thoracic Surgery (VATS) was performed, along with multiple tumor biopsies and moderate pleural effusion drainage. The tumor’s measurements had increased to DMax: 16 cm × 9 cm × 13 cm, with a severe degree of atelectasis of the Right Lower Lobe parenchyma (RLL) and a pressure-displacement effect upon the Superior Vena Cava (SVC) and the (R) heart sinus, based on data from the preoperative chest MRA. The histological report indicated elements of a combined, non-seminomatous germ-cell mediastinal tumor, posthuberal-type teratoma, and embryonal carcinoma. The imminent chemotherapeutic plan included a “BEP” (Bleomycin®/Cisplatin®/Etoposide®) scheme, which needed to be modified to a “VIP” (Cisplatin®/Etoposide®/Ifosfamide®) scheme, due to an acute pulmonary embolism incident. While the aFP blood levels declined, even reaching normal measurements, the tumor’s size continued to increase significantly (DMax: 28 cm × 25 cm × 13 cm), with severe localized pressure effects, rapid weight loss, and a progressively worsening clinical status. Thus, an emergency surgical intervention took place via median sternotomy, extended with a complementary “T-Shaped” mini anterior (R) thoracotomy. A large, approx. 4 Kg mediastinal tumor was extracted, with additional RML and RUL “en-bloc” segmentectomy and partial mediastinal pleura decortication. The following histological results, apart from verifying the already-known posthuberal-type teratoma, indicated additional scattered small lesions of combined high-grade rabdomyosarcoma, chondrosarcoma, and osteosarcoma, as well as numerous high-grade glioblastoma cellular gatherings. No visible findings of the previously discovered non-seminomatous germ-cell and embryonal carcinoma elements were found. The patient’s postoperative status progressively improved, allowing therapeutic management to continue with six “TIP” (Cisplatin®/Paclitaxel®/Ifosfamide®) sessions, currently under his regular “follow-up” from the oncological team. This report underlines the importance of early, accurate histological identification, combined with any necessary surgical intervention, diagnostic or therapeutic, as well as the appliance of any subsequent multimodality management plan. The diversity of mediastinal tumors, especially for young patients, leaves no place for complacency. Such rare examples may manifest, with equivalent, unpredictable evolution, obliging clinical physicians to stay constantly alert and not take anything for granted. Full article
(This article belongs to the Section Thoracic Oncology)
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9 pages, 211 KiB  
Communication
Prevention Works Best in Pairs: An Observational Study on Connubial Melanoma
by Alessandra Iorio, Maria Concetta Fargnoli, Francesca Sperati, Pasquale Frascione and Paola De Simone
Diagnostics 2025, 15(15), 1869; https://doi.org/10.3390/diagnostics15151869 - 25 Jul 2025
Viewed by 204
Abstract
Background: Connubial melanoma, the occurrence of melanoma in non-consanguineous spouses, is rarely described in the literature. This study aimed to evaluate the prevalence of shared risk factors, preventive behaviors, and the influence of couple dynamics on the early diagnosis of cutaneous melanoma (CM). [...] Read more.
Background: Connubial melanoma, the occurrence of melanoma in non-consanguineous spouses, is rarely described in the literature. This study aimed to evaluate the prevalence of shared risk factors, preventive behaviors, and the influence of couple dynamics on the early diagnosis of cutaneous melanoma (CM). Methods: We conducted a retrospective observational study at the San Gallicano Dermatological Institute IRCCS, Rome, enrolling 52 heterosexual couples diagnosed with CM between 2010 and 2023. Clinical and anamnestic data, including phototype, history of sun exposure, use of tanning devices, and reason for dermatological evaluation, were collected. Dermatological assessments included dermoscopy, total body photography, and histological examination of excised lesions. Statistical analyses were performed using chi-square and Student’s t-tests. Results: Women reported significantly higher use of artificial ultraviolet sources (51.9% vs. 19.2%, p < 0.001) and more frequent histories of sunburn. Phototype II was associated with higher use of tanning devices and a greater prevalence of sunburns. Although the CM stage did not significantly differ between sexes, husbands exhibited a greater Breslow thickness. Melanoma localization differed by sex, with lower limbs more often affected in women and the trunk in men (p < 0.001). In 86.5% of cases, wives initiated their husband’s dermatological evaluation, leading to earlier diagnosis. Conclusions: Despite shared environmental exposures, men and women differ in preventive behaviors and risk profiles. Women play a crucial role in promoting early detection among couples. Couple-based preventive strategies may be instrumental in improving early melanoma diagnosis and outcomes. Full article
(This article belongs to the Special Issue New Developments in the Diagnosis of Skin Tumors)
11 pages, 796 KiB  
Review
Prenatal Rare 16q24.1 Deletion Between Genomics and Epigenetics: A Review
by Valentina Fumini, Romina Bonora, Anna Busciglio, Francesca Cartisano, Paola Celli, Ilaria Gabbiato, Nicola Guercini, Barbara Mancini, Donatella Saccilotto, Anna Zilio and Daniela Zuccarello
Genes 2025, 16(8), 873; https://doi.org/10.3390/genes16080873 - 24 Jul 2025
Viewed by 231
Abstract
Alveolar capillary dysplasia with misalignment of pulmonary veins (ACDMPV) is a rare, often fatal congenital disorder characterized by severe neonatal respiratory distress and associated with complex multisystem malformations. In approximately 90% of cases, the condition is linked to deletions or mutations affecting the [...] Read more.
Alveolar capillary dysplasia with misalignment of pulmonary veins (ACDMPV) is a rare, often fatal congenital disorder characterized by severe neonatal respiratory distress and associated with complex multisystem malformations. In approximately 90% of cases, the condition is linked to deletions or mutations affecting the FOXF1 gene or its upstream enhancer region on chromosome 16q24.1. This review analyzes reported prenatal cases with 16q24.1 deletion involving FOXF1, aiming to identify recurrent sonographic features and elucidate the underlying genomic and epigenetic mechanisms. We reviewed prenatal cases reported in the literature involving deletions of the 16q24.1 region, including the FOXF1 gene. Here, we expand the case series by reporting a fetus with increased nuchal translucency measuring 8 mm and a de novo 16q24.1 deletion. We identified nine prenatal cases with a 16q24.1 deletion, all involving the FOXF1 gene or its enhancer region. The main ultrasound findings included increased nuchal translucency and cystic hygroma during the first trimester, and cardiac, renal, and intestinal malformations from 20 weeks of gestation onward. Prenatal diagnosis of ACDMPV based solely on ultrasound findings is challenging. In most reported cases, the pregnancy was carried to term, with the diagnosis being confirmed by post-mortem histopathological examination. In the only case in which the pregnancy was terminated at 14 weeks’ gestation, histological examination of the fetal lungs, despite them being in the early stages of development, revealed misaligned pulmonary veins in close proximity to the pulmonary arteries and bronchioles. Evidence highlights the significance of non-coding regulatory regions in the regulation of FOXF1 expression. Differential methylation patterns, and possible contributions of parental imprinting, highlight the complexity of FOXF1 regulation. Early detection through array comparative genomic hybridization (array CGH) or next-generation sequencing to identify point mutations in the FOXF1 gene, combined with increased awareness of ultrasound markers suggestive of the condition, could improve the accuracy of prenatal diagnosis and genetic counseling. Further research into the epigenetic regulation of FOXF1 is crucial for refining recurrence risk estimates and improving genetic counseling practices. Full article
(This article belongs to the Section Human Genomics and Genetic Diseases)
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23 pages, 454 KiB  
Article
Gastric Cancer Surgery Before and During the COVID-19 Pandemic in Turkey: A Multicenter Comparison of Prognostic Factors, Mortality, and Survival
by Yasin Dalda, Sami Akbulut, Zeki Ogut, Serkan Yilmaz, Emrah Sahin, Ozlem Dalda, Adem Tuncer and Zeynep Kucukakcali
Medicina 2025, 61(8), 1336; https://doi.org/10.3390/medicina61081336 - 24 Jul 2025
Viewed by 366
Abstract
Background/Objectives: The COVID-19 pandemic disrupted global cancer care. This study compared gastric cancer surgical outcomes before and during the pandemic in Turkey. We also aimed to analyze the impact of the pandemic and factors on survival and mortality in gastric cancer patients. Materials [...] Read more.
Background/Objectives: The COVID-19 pandemic disrupted global cancer care. This study compared gastric cancer surgical outcomes before and during the pandemic in Turkey. We also aimed to analyze the impact of the pandemic and factors on survival and mortality in gastric cancer patients. Materials and Methods: This retrospective, multicenter cohort study included 324 patients from three tertiary centers in Turkey who underwent gastric cancer surgery between January 2018 and December 2022. Patients were stratified into Pre-COVID-19 (n = 150) and COVID-19 Era (n = 174) groups. Comprehensive demographic, surgical, pathological, and survival data were analyzed. To identify factors independently associated with postoperative mortality, a multivariable logistic regression model was applied. For evaluating predictors of long-term survival, multivariable Cox proportional hazards regression analysis was conducted. Results: The median time from diagnosis to surgery was comparable between groups, while the time from surgery to pathology report was significantly prolonged during the pandemic (p = 0.012). Laparoscopic surgery (p = 0.040) and near-total gastrectomy (p = 0.025) were more frequently performed in the Pre-COVID-19 group. Although survival rates between groups were similar (p = 0.964), follow-up duration was significantly shorter in the COVID-19 Era (p < 0.001). Comparison between survivor and non-survivor groups showed that several variables were significantly associated with mortality, including larger tumor size (p < 0.001), greater number of metastatic lymph nodes (p < 0.001), elevated preoperative CEA (p = 0.001), CA 19-9 (p < 0.001), poor tumor differentiation (p = 0.002), signet ring cell histology (p = 0.003), lymphovascular invasion (p < 0.001), and perineural invasion (p < 0.001). Multivariable logistic regression identified total gastrectomy (OR: 2.14), T4 tumor stage (OR: 2.93), N3 nodal status (OR: 2.87), and lymphovascular invasion (OR: 2.87) as independent predictors of postoperative mortality. Cox regression analysis revealed that combined tumor location (HR: 1.73), total gastrectomy (HR: 1.56), lymphovascular invasion (HR: 2.63), T4 tumor stage (HR: 1.93), N3 nodal status (HR: 1.71), and distant metastasis (HR: 1.74) were independently associated with decreased overall survival. Conclusions: Although gastric cancer surgery continued during the COVID-19 pandemic, some delays in pathology reporting were observed; however, these did not significantly affect the timing of adjuvant therapy or patient outcomes. Importantly, pandemic timing was not identified as an independent risk factor for mortality in multivariable logistic regression analysis, nor for survival in multivariable Cox regression analysis. Instead, tumor burden and aggressiveness—specifically advanced stage, lymphovascular invasion, and total gastrectomy—remained the primary independent determinants of poor prognosis. While pandemic-related workflow delays occurred, institutional adaptability preserved oncologic outcomes. Full article
(This article belongs to the Section Gastroenterology & Hepatology)
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11 pages, 263 KiB  
Article
Prevalence and Diagnostic Comparison of Helicobacter pylori and Non-Helicobacter pylori Helicobacter Infections in Patients Undergoing Upper Gastrointestinal Endoscopy with Gastric Biopsy in Algarve, Portugal
by Francisco Cortez Nunes, Teresa Letra Mateus, Catarina Aguieiras, Ricardo Louro, Bruno Peixe, Mauro Calhindro, Patrícia Queirós and Pedro Castelo-Branco
Microorganisms 2025, 13(7), 1684; https://doi.org/10.3390/microorganisms13071684 - 17 Jul 2025
Viewed by 1083
Abstract
H. pylori infects over half of the global population and is associated with various gastric and extra-gastric diseases. Other species, such as zoonotic non-Helicobacter pylori Helicobacters (NHPHs), have shown similar associations with gastritis and MALT lymphoma and H. pylori-negative cases with [...] Read more.
H. pylori infects over half of the global population and is associated with various gastric and extra-gastric diseases. Other species, such as zoonotic non-Helicobacter pylori Helicobacters (NHPHs), have shown similar associations with gastritis and MALT lymphoma and H. pylori-negative cases with gastric disease have been identified, including gastric MALT lymphoma, chronic gastritis, and gastroduodenal ulcers. Accurate identification of these species is of great relevance but remains challenging using conventional diagnostic methods. This cross-sectional study aimed to determine the prevalence of H. pylori and NHPH infections, comparing standard histological protocols with molecular techniques. Between December 2024 and February 2025, 54 adult patients undergoing upper gastrointestinal endoscopy (UGE) with gastric biopsy in three hospitals in Algarve, Portugal were recruited. Endoscopic assessment was performed, and gastric biopsies were collected for histological and molecular analysis. DNA was extracted from antral biopsies and analyzed by conventional PCR to detect H. pylori and NHPH. H. pylori diagnostic techniques were compared, descriptive plus statistical analysis was performed, and p-values < 0.05 were considered to be statistically significant. Fifty-four patients were included in the study, with 51.9% of them presenting symptoms. Endoscopic gastritis was observed in 66.7% of patients, while histological gastritis was present in 88.9%, with statistically significant differences between the two diagnostic techniques (p = 0.004). Helicobacter spp. were identified in 44.4% (24/54) of the patients. H. pylori was detected in 42.6% of the patients by Modified Giemsa stain and in 33.3% by PCR. H. bizzozeronii was found in 35.9% of the patients, with 22.2% showing mixed infections. This study reveals a significant prevalence of Helicobacter spp. in patients from the Algarve region, with both H. pylori and zoonotic H. bizzozeronii detected. This is the first report of H. bizzozeronii DNA detection in gastric biopsies via PCR from patients undergoing UGE in Portugal, highlighting the need to consider NHPH in clinical diagnosis. It is important to include molecular methods in routine diagnostics and the need for broader studies to assess regional and national trends in Helicobacter infections besides H. pylori. Full article
(This article belongs to the Section Public Health Microbiology)
10 pages, 229 KiB  
Article
The Incidence of Oncocytoma and Angiomyolipoma in Patients Undergoing Nephron-Sparing Surgery for Small Renal Masses
by Stelian Ianiotescu, Constantin Gingu, Irina Balescu, Nicolae Bacalbasa, Cristian Balalau and Ioanel Sinescu
J. Mind Med. Sci. 2025, 12(2), 38; https://doi.org/10.3390/jmms12020038 - 16 Jul 2025
Viewed by 244
Abstract
Background: Oncocytoma and angiomyolipoma (AML) are benign renal tumors that may mimic malignant lesions on imaging. With the increasing use of partial nephrectomy (PN) for renal masses, accurate preoperative characterization of these lesions is essential. This study highlights the role of partial nephrectomy [...] Read more.
Background: Oncocytoma and angiomyolipoma (AML) are benign renal tumors that may mimic malignant lesions on imaging. With the increasing use of partial nephrectomy (PN) for renal masses, accurate preoperative characterization of these lesions is essential. This study highlights the role of partial nephrectomy as a valuable diagnostic tool in situations where imaging is inconclusive or raises concern for malignancy without definitive confirmation. In the absence of a reliable preoperative diagnosis, partial nephrectomy provides direct histologic verification with minimal perioperative morbidity. Moreover, it offers curative potential when malignancy is present. By achieving both diagnostic certainty and renal preservation, this approach is well-suited for clinical scenarios in which imaging ambiguity might otherwise result in overtreatment through radical surgery or undertreatment Material and methods: in this retrospective study, we reviewed our 5-year experience (2019–2024), 188 partial nephrectomies—including bilateral procedures and operations on solitary kidneys—using robotic and open approaches. All of these 30 tumors were solid renal masses with indeterminate imaging features or suspicious characteristics suggestive of malignancy, further underscoring the limitations of current preoperative diagnostic modalities. Results: Histopathological evaluation confirmed benign renal tumors in 30 cases, with oncocytoma diagnosed in 18 cases (16 robotic, 2 open) and AML in 12 cases (9 robotic, 3 open). Conclusions: Even when imaging raises suspicion of malignancy or remains inconclusive, many small renal masses are ultimately confirmed as benign upon histopathological examination. This study underscores the diagnostic uncertainty associated with small renal tumors and highlights the value of partial nephrectomy as a decisive diagnostic intervention. In situations where non-invasive modalities fail to provide definitive answers, partial nephrectomy offers tissue confirmation with minimal morbidity. Furthermore, when malignancy is present, this approach ensures appropriate oncologic management while preserving renal function. Our findings support the integration of this strategy into routine clinical practice, particularly when diagnostic clarity is essential for guiding safe and effective treatment. Full article
20 pages, 3367 KiB  
Review
Intravascular Lymphoma: A Unique Pattern Underlying a Protean Disease
by Mario Della Mura, Joana Sorino, Filippo Emanuele Angiuli, Gerardo Cazzato, Francesco Gaudio and Giuseppe Ingravallo
Cancers 2025, 17(14), 2355; https://doi.org/10.3390/cancers17142355 - 15 Jul 2025
Viewed by 297
Abstract
Intravascular lymphoma (IVL) is a rare, aggressive subtype of non-Hodgkin lymphoma (NHL) characterized by the selective proliferation of neoplastic lymphoid cells within small and medium-sized blood vessels, most frequently of B-cell origin (IVLBCL). Its protean clinical presentation, lack of pathognomonic findings, and absence [...] Read more.
Intravascular lymphoma (IVL) is a rare, aggressive subtype of non-Hodgkin lymphoma (NHL) characterized by the selective proliferation of neoplastic lymphoid cells within small and medium-sized blood vessels, most frequently of B-cell origin (IVLBCL). Its protean clinical presentation, lack of pathognomonic findings, and absence of tumor masses or lymphadenopathies often lead to diagnostic delays and poor outcomes. IVLBCL can manifest in classic, hemophagocytic syndrome-associated (HPS), or cutaneous variants, with extremely variable organ involvement including the central nervous system (CNS), skin, lungs, and endocrine system. Diagnosis requires histopathologic identification of neoplastic intravascular lymphoid cells via targeted or random tissue biopsies. Tumor cells are highly atypical and display a non-GCB B-cell phenotype, often expressing CD20, MUM1, BCL2, and MYC; molecularly, they frequently harbor mutations in MYD88 and CD79B, defining a molecular profile shared with ABC-type DLBCL of immune-privileged sites. Therapeutic approaches are based on rituximab-containing chemotherapy regimens (R-CHOP), often supplemented with CNS-directed therapy due to the disease’s marked neurotropism. Emerging strategies include autologous stem cell transplantation (ASCT) and novel immunotherapeutic approaches, potentially exploiting the frequent expression of PD-L1 by tumor cells. A distinct but related entity, intravascular NK/T-cell lymphoma (IVNKTCL), is an exceedingly rare EBV-associated lymphoma, showing unique own histologic, immunophenotypic, and molecular features and an even poorer outcome. This review provides a comprehensive overview of the current understandings about clinicopathological, molecular, and therapeutic landscape of IVL, emphasizing the need for increased clinical awareness, standardized diagnostic protocols, and individualized treatment strategies for this aggressive yet intriguing malignancy. Full article
(This article belongs to the Special Issue Advances in Pathology of Lymphoma and Leukemia)
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13 pages, 3313 KiB  
Article
CT Texture Patterns Reflect HPV Status but Not Histological Differentiation in Oropharyngeal Squamous Cell Carcinoma
by Lays Assolini Pinheiro de Oliveira, Caio Elias Irajaya Lobo Peresi, Daniel Vitor Aguiar Nozaki, Ericka Francislaine Dias Costa, Lana Ferreira Santos, Carmen Silvia Passos Lima, Sérgio Lúcio Pereira de Castro Lopes and Andre Luiz Ferreira Costa
Cancers 2025, 17(14), 2317; https://doi.org/10.3390/cancers17142317 - 11 Jul 2025
Viewed by 350
Abstract
Background: Texture analysis (TA) has shown promise in characterizing intratumoral heterogeneity from imaging data. We add to the literature that shows its capability to differentiate oropharyngeal cancers based on HPV status. Methods: Multislice CT analysis was done in 120 patients with confirmed OP [...] Read more.
Background: Texture analysis (TA) has shown promise in characterizing intratumoral heterogeneity from imaging data. We add to the literature that shows its capability to differentiate oropharyngeal cancers based on HPV status. Methods: Multislice CT analysis was done in 120 patients with confirmed OP SCC: a single 5 mm region of interest was placed on three consecutive homogeneous CT slices per patient. Texture features were extracted by using gray-level co-occurrence matrices averaged per patient. HPV status (via p16 IHC and molecular confirmation) and differentiation grade (i.e., good, moderate, and poor) were recorded. Non-parametric statistical tests assessed differences between subgroups. Results: Seven texture parameters (i.e., angular second moment, contrast, sum of squares, sum entropy, entropy, inverse difference moment, and difference variance) differed significantly between HPV+ and HPV− tumors (all p < 0.05). HPV+ tumors exhibited increased heterogeneity and complexity on CT imaging. No texture feature correlated with histological grade. Conclusions: This study adds to the growing evidence that CT-based TA can assess HPV status in OP SCC. TA may be promising, though it requires further validation as an adjunctive method integrating into radiomics workflows to develop predictive models for diagnosis, prognosis, and treatment planning. Full article
(This article belongs to the Collection Imaging Biomarker in Oncology)
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17 pages, 4741 KiB  
Systematic Review
Venous Malformation of the Maxilla: A Systematic Review and a Report of an Unusual Case
by Alexandre Perez, Elena Pierantozzi, Anaël Jose Cancela, Valerio Cimini and Tommaso Lombardi
Surgeries 2025, 6(3), 56; https://doi.org/10.3390/surgeries6030056 - 11 Jul 2025
Viewed by 276
Abstract
Background: Venous malformation, formerly designated as cavernous hemangioma, is a rare vascular lesion characterized by significant endothelial cells proliferation, predominantly affecting young females. Diagnosis is challenging due to its low incidence and variety of clinical, radiological, and histological presentations. Objectives: The aim was [...] Read more.
Background: Venous malformation, formerly designated as cavernous hemangioma, is a rare vascular lesion characterized by significant endothelial cells proliferation, predominantly affecting young females. Diagnosis is challenging due to its low incidence and variety of clinical, radiological, and histological presentations. Objectives: The aim was to review the current scientific understanding of maxillary venous malformation based on the available literature and present an additional rare case of venous malformation of the upper maxilla. Methods: A systematic review was conducted across PubMed, Google Scholar, and Embase databases for studies published between January 1990 and April 2025. Inclusion criteria encompassed meta-analyses, systematic reviews, randomized controlled trials, non-randomized controlled trials, cohort studies, and case reports describing cavernous hemangiomas and venous malformation of the maxilla. All clinical and radiological characteristics were considered. Results: Out of 10,021 studies identified through our database search, 22 met the inclusion criteria, describing 28 (29 with our case) clinical cases of maxillary venous malformation. Conclusions: Maxillary venous malformation presents complex and varied clinical and radiological aspects, which are crucial for preoperative assessment and management. Appropriate measures may be necessary to prevent bleeding complications during lesion removal. To the best of our knowledge, this is the first comprehensive review on venous malformation of the maxilla. In addition, we report an unusual case identified incidentally during implant planning and successfully removed through isolated bone augmentation. Full article
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18 pages, 444 KiB  
Systematic Review
Characteristics and Treatment of Primary Hepatic Perivascular Epithelioid Cell Tumor (PEComa) in Adults: A Systematic Review
by Konstantinos Papantoniou, Ioanna Aggeletopoulou, Maria Kalafateli and Christos Triantos
Cancers 2025, 17(14), 2276; https://doi.org/10.3390/cancers17142276 - 8 Jul 2025
Viewed by 338
Abstract
Background: Perivascular epithelioid cell tumors (PEComas) are a rare group of mesenchymal neoplasms with distinctive histological and immunohistochemical features. This systematic review aims to characterize the clinical presentation, diagnostic approach, treatment, and outcomes of adult patients with hepatic PEComa. Methods: We performed a [...] Read more.
Background: Perivascular epithelioid cell tumors (PEComas) are a rare group of mesenchymal neoplasms with distinctive histological and immunohistochemical features. This systematic review aims to characterize the clinical presentation, diagnostic approach, treatment, and outcomes of adult patients with hepatic PEComa. Methods: We performed a systematic literature search for English-language articles regarding hepatic PEComas using the terms (perivascular epithelioid cell tumor) OR (PEComa) AND (liver) OR (hepatic), up to 25 May 2025. Results: A total of 145 studies encompassing 281 patients were included in the analysis. Most studies originated from Asia. The mean age at diagnosis was 46 years (IQR: 35.25–53.75) with a female predominance. The underlying comorbidities were uncommon among the reported cases, and more than half were asymptomatic at presentation. The tumor presented as a single liver lesion in almost 9 out of 10 patients. Surgical excision was the primary treatment, and diagnosis in 74% of patients was made with positive immunohistochemistry for markers such as HMB-45 and smooth muscle actin. A malignant phenotype was reported in 30 cases. The median follow-up duration was 24 months (IQR: 12–48); recurrence occurred in 17 patients, and disease-related mortality occurred in 8 patients. Conclusions: Primary hepatic PEComa is a rare liver tumor with mostly benign clinical behavior and non-specific presentation. Future studies are needed to support clinician decisions regarding this entity and improve patient care. Full article
(This article belongs to the Section Systematic Review or Meta-Analysis in Cancer Research)
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11 pages, 1523 KiB  
Article
Non-Involuting Congenital Hepatic Hemangioma: Lessons from a Case Series
by Karla Estefanía-Fernández, Paloma Triana, Carla Ramírez-Amorós, Mireia Gaspar-Pérez, Antonio Jesús Muñoz-Serrano, María Velayos, María San Basilio, Nelson M. Buitrago, Manuel Parrón, Ane Andrés, Francisco Hernández-Oliveros and Juan Carlos López Gutiérrez
Children 2025, 12(7), 893; https://doi.org/10.3390/children12070893 - 7 Jul 2025
Viewed by 317
Abstract
Background: Congenital hepatic hemangiomas (CHHs) are typically considered rapidly involuting tumors, similar to their cutaneous counterparts (RICHs). However, non-involuting tumors remain poorly characterized. This study examines the evolutionary patterns and management strategies for non-involuting congenital hepatic hemangiomas (NICHHs). Methods: We conducted [...] Read more.
Background: Congenital hepatic hemangiomas (CHHs) are typically considered rapidly involuting tumors, similar to their cutaneous counterparts (RICHs). However, non-involuting tumors remain poorly characterized. This study examines the evolutionary patterns and management strategies for non-involuting congenital hepatic hemangiomas (NICHHs). Methods: We conducted a retrospective review of clinical, imaging, histological, and genetic data of children diagnosed with NICHH—defined as showing no signs of involution for at least 18 months—between 1991 and 2022. Results: Seven patients (five females, two males) were identified. The median age at diagnosis was 42 days (range: 0–1440). Five patients had asymptomatic lesions, predominantly located in the right hepatic lobe. Histologic confirmation was available in three cases, and a GNAQ gene mutation was identified in one. The median follow-up period was 75 months (range: 35–191). Three patients with giant NICHH were treated with sirolimus, resulting in partial response in two cases and lesion stabilization in one. The four untreated patients showed diverse evolutionary patterns, including delayed involution and tardive growth. Conclusions: NICHH lesions demonstrate distinct long-term evolution. Accurate diagnosis and regular monitoring are essential to avoid unnecessary interventions. Sirolimus may offer a promising non-surgical treatment for select patients, particularly those with giant lesions. Full article
(This article belongs to the Section Pediatric Surgery)
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9 pages, 3832 KiB  
Case Report
Non-Invasive Diagnostic Imaging in Kaposi Sarcoma Evaluation
by Carmen Cantisani, Antonio Di Guardo, Marco Ardigò, Mariano Suppa, Salvador Gonzalez, Caterina Longo, Alberto Taliano, Emanuele Rovaldi, Elisa Cinotti and Giovanni Pellacani
Diagnostics 2025, 15(13), 1665; https://doi.org/10.3390/diagnostics15131665 - 30 Jun 2025
Viewed by 437
Abstract
Background and Clinical Significance: Kaposi sarcoma (KS) is a rare angio-proliferative mesenchymal tumor that predominantly affects the skin and mucous membranes but may involve lymph nodes and visceral organs. Clinically, it manifests as red-purple-brown papules, nodules, or plaques, either painless or painful, often [...] Read more.
Background and Clinical Significance: Kaposi sarcoma (KS) is a rare angio-proliferative mesenchymal tumor that predominantly affects the skin and mucous membranes but may involve lymph nodes and visceral organs. Clinically, it manifests as red-purple-brown papules, nodules, or plaques, either painless or painful, often with disfiguring potential. The diagnosis is traditionally based on clinical and histopathological evaluation, although non-invasive imaging techniques are increasingly used to support diagnosis and treatment monitoring. We report a case of HHV-8-negative Kaposi sarcoma evaluated with multiple non-invasive imaging modalities to highlight their diagnostic utility. Case Presentation: An 83-year-old man presented with multiple painful, violaceous papulo-nodular lesions, some ulcerated, on the lateral aspect of his left foot. Dermoscopy revealed the characteristic rainbow pattern. Dynamic Optical Coherence Tomography (D-OCT) allowed real-time visualization of microvascular abnormalities, identifying large serpentine and branching vessels with clearly delineated capsules. Line-field Optical Coherence Tomography (LC-OCT) showed irregular dermal collagen, vascular lacunae, and the presence of spindle cells and slit-like vessels. Histological analysis confirmed the diagnosis of Kaposi sarcoma, revealing a proliferation of spindle-shaped endothelial cells forming angulated vascular spaces, with red blood cell extravasation and a mixed inflammatory infiltrate. Conclusions: Non-invasive imaging tools, including dermoscopy, D-OCT, and LC-OCT, have emerged as valuable adjuncts in the diagnosis and monitoring of KS. These techniques enable in vivo assessment of vascular architecture and tissue morphology, enhancing clinical decision-making while reducing the need for immediate biopsy. Dermoscopy reveals polychromatic vascular features, such as the rainbow pattern, while D-OCT and LC-OCT provide high-resolution insights into vascular proliferation, tissue heterogeneity, and cellular morphology. Dermoscopy, dynamic OCT, and LC-OCT represent promising non-invasive diagnostic tools for the assessment of Kaposi sarcoma. These technologies provide detailed morphological and vascular information, enabling earlier diagnosis and more personalized management. While histopathology remains the gold standard, non-invasive imaging offers a valuable complementary approach for diagnosis and follow-up, particularly in complex or atypical presentations. Ongoing research and technological refinement are essential to improve accessibility and clinical applicability. Full article
(This article belongs to the Special Issue Optical Coherence Tomography in Non-Invasive Diagnostic Imaging)
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16 pages, 1419 KiB  
Review
Histopathological Types, Clinical Presentation, Imaging Studies, Treatment Strategies, and Prognosis of Posterior Pituitary Tumors: An Updated Review
by Pedro Iglesias
J. Clin. Med. 2025, 14(13), 4553; https://doi.org/10.3390/jcm14134553 - 26 Jun 2025
Viewed by 527
Abstract
Posterior pituitary tumors (PPTs) are rare, non-neuroendocrine neoplasms derived from pituicytes of the neurohypophysis or infundibulum. According to the 2025 WHO classification, PPTs comprise four distinct but related low-grade entities: pituicytoma, granular cell tumor of the sellar region, spindle cell oncocytoma, and ependymal [...] Read more.
Posterior pituitary tumors (PPTs) are rare, non-neuroendocrine neoplasms derived from pituicytes of the neurohypophysis or infundibulum. According to the 2025 WHO classification, PPTs comprise four distinct but related low-grade entities: pituicytoma, granular cell tumor of the sellar region, spindle cell oncocytoma, and ependymal pituicytoma. All share nuclear TTF-1 expression, confirming their common origin, but differ in morphology, immunophenotype, and ultrastructure. Histologically, pituicytomas consist of bipolar spindle cells in fascicles; granular cell tumors show polygonal cells with PAS-positive, diastase-resistant cytoplasmic granules; spindle cell oncocytomas display oncocytic change and abundant mitochondria; and ependymal pituicytomas exhibit perivascular pseudorosettes and EMA positivity in apical or dot-like patterns. Immunohistochemically, all are S100 and vimentin positive, and negative for pituitary hormones and lineage-specific transcription factors. Clinically, PPTs are typically non-functioning but may be associated with corticotroph or somatotroph hyperfunction. Imaging features are nonspecific. Surgical resection is the treatment of choice, although hypervascularity and adherence—especially in spindle cell oncocytomas—can hinder complete excision. Radiotherapy is reserved for recurrences. Molecular analyses reveal recurrent alterations in MAPK/PI3K pathways (e.g., HRAS, BRAF, FGFR1, NF1, TSC1) and suggest a shared histogenesis. Copy number imbalances correlate with reduced progression-free survival in some subtypes. Despite a generally favorable prognosis, recurrence—particularly in spindle cell oncocytomas—necessitates long-term follow-up. The WHO 2025 update provides a unified framework for classification, diagnosis, and prognostic stratification of these rare tumors. Full article
(This article belongs to the Section Oncology)
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22 pages, 620 KiB  
Review
Vaginal Adenocarcinoma: A Review of a Rare Gynecologic Cancer
by Mun-Kun Hong and Dah-Ching Ding
Cancers 2025, 17(13), 2130; https://doi.org/10.3390/cancers17132130 - 25 Jun 2025
Viewed by 808
Abstract
Background/Objectives: Vaginal adenocarcinoma is a rare malignancy, accounting for less than 10% of all primary vaginal cancers. It predominantly affects older women but can also occur in younger populations, particularly in association with in utero diethylstilbestrol (DES) exposure. Given its rarity, evidence regarding [...] Read more.
Background/Objectives: Vaginal adenocarcinoma is a rare malignancy, accounting for less than 10% of all primary vaginal cancers. It predominantly affects older women but can also occur in younger populations, particularly in association with in utero diethylstilbestrol (DES) exposure. Given its rarity, evidence regarding the optimal management of vaginal adenocarcinoma remains limited. This review aimed to summarize the current understanding of vaginal adenocarcinoma, covering the epidemiology, etiology, diagnostic approaches, treatment modalities, prognosis, and areas requiring further investigation thereof. Methods: We conducted a search for the term “vaginal adenocarcinoma” in the PubMed, Scopus, and Web of Science databases from January 2016 to 28 April 2025. Results: Overall, 83 articles were included in the final review. Among them, 21 cases of vaginal adenocarcinoma were reported. Vaginal adenocarcinoma demonstrates a bimodal age distribution, with clear cell histology commonly linked to DES exposure and endometrioid or mucinous types seen in older patients. Risk factors include DES exposure, chronic inflammation, and human papillomavirus (HPV) infection. The diagnosis relies on a pelvic examination, imaging, and biopsy. Treatment typically involves surgery, radiotherapy, or a combination thereof, tailored to the stage and location, with chemotherapy reserved for advanced cases. The prognosis depends on the histologic subtype, tumor size, stage, and treatment response, with early-stage disease generally associated with better outcomes. Conclusions: Improved awareness of risk factors and early diagnostic strategies is critical to optimize patient outcomes. Research is needed to refine treatment protocols, explore targeted therapies and immunotherapy, and investigate the molecular underpinnings of vaginal adenocarcinoma, particularly non-DES-associated types. Full article
(This article belongs to the Special Issue Rare Gynecological Cancers)
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24 pages, 691 KiB  
Review
Multimodal Preoperative Management of Rectal Cancer: A Review of the Existing Guidelines
by Ionut Negoi
Medicina 2025, 61(7), 1132; https://doi.org/10.3390/medicina61071132 - 24 Jun 2025
Viewed by 633
Abstract
Rectal cancer management necessitates a rigorous multidisciplinary strategy, emphasizing precise staging and detailed risk stratification to inform optimal therapeutic decision-making. Obtaining an accurate histological diagnosis before initiating treatment is essential. Comprehensive staging integrates clinical evaluation, thorough medical history analysis, assessment of carcinoembryonic antigen [...] Read more.
Rectal cancer management necessitates a rigorous multidisciplinary strategy, emphasizing precise staging and detailed risk stratification to inform optimal therapeutic decision-making. Obtaining an accurate histological diagnosis before initiating treatment is essential. Comprehensive staging integrates clinical evaluation, thorough medical history analysis, assessment of carcinoembryonic antigen (CEA) levels, and computed tomography (CT) imaging of the abdomen and thorax. High-resolution pelvic magnetic resonance imaging (MRI), utilizing dedicated rectal protocols, is critical for identifying recurrence risks and delineating precise anatomical relationships. Endoscopic ultrasound further refines staging accuracy by determining the tumor infiltration depth in early-stage cancers, while preoperative colonoscopy effectively identifies synchronous colorectal lesions. In early-stage rectal cancers (T1–T2, N0, and M0), radical surgical resection remains the standard of care, although transanal local excision can be selectively indicated for certain T1N0 tumors. In contrast, locally advanced rectal cancers (T3, T4, and N+) characterized by microsatellite stability or proficient mismatch repair are optimally managed with total neoadjuvant therapy (TNT), which combines chemoradiotherapy with oxaliplatin-based systemic chemotherapy. Additionally, tumors exhibiting high microsatellite instability or mismatch repair deficiency respond favorably to immune checkpoint inhibitors (ICIs). The evaluation of tumor response following neoadjuvant therapy, utilizing MRI and endoscopic assessments, facilitates individualized treatment planning, including non-operative approaches for patients with confirmed complete clinical responses who comply with rigorous follow-up. Recent advancements in molecular characterization, targeted therapies, and immunotherapy highlight a significant evolution towards personalized medicine. The effective integration of these innovations requires enhanced interdisciplinary collaboration to improve patient prognosis and quality of life. Full article
(This article belongs to the Special Issue Recent Advances and Future Challenges in Colorectal Surgery)
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