Search Results (103)

Over the last few decades, due to improvement in imaging techniques, the increased detection of adrenal incidentalomas is observed. Non-aldosterone producing adrenal adenomas (NAPACAs) often co-exist with second benign or malignant lesions. In the present study, we aimed to assess the presence of second neoplasms, both benign and malignant, in patients with NAPACAs, and to investigate possible correlations with clinical parameters, hormonal characteristics and the emergence of comorbidities. A total of 130 NAPACA patients were included in this single-center retrospective study. In this cohort, 35.4% of NAPACA patients carried any second neoplasm (either benign or malignant) whereas, 26.9% had a second malignant neoplasm. Cortisol levels after 1 mg overnight dexamethasone suppression test (F-ODS) were significantly higher in patients without a second neoplasm (p = 0.02), and this finding was consistent even when categorizing patients with and without malignancies (p = 0.02). In line with this observation, ACTH/F-ODS levels were significantly higher in patients with second malignancies (p < 0.05). Interestingly, the presence of mild autonomous cortisol secretion tended to be lower in patients with second malignancies (p = 0.08). No remarkable differences in the comorbidities of NAPACA patients with and without a second neoplasm were documented. Further prospective studies will be needed to elucidate the role of mild hypercortisolemia on the development of these second tumors in NAPACA patients. Full article

DICER1 syndrome is a hereditary cancer predisposition syndrome, characterized by a large range of benign and malignant neoplasms. Patients with DICER1 syndrome have a broad phenotype, with pleuropulmonary blastoma, Sertoli–Leydig cell tumor, cystic nephroma, cervical embryonal rhabdomyosarcoma, cystic lung lesions, and thyroid follicular nodular disease being the most prevalent manifestations. The syndrome is caused by loss-of-function germline variants in the DICER1 gene, and DICER1-related tumors are characterized by second somatic hotspot variants in the RNase IIIb domain of DICER1. DICER1 encodes an endoribonuclease, which is important for RNA interference. This review describes the molecular mechanism of DICER1 function and the pathogenetic mechanisms of tumorigenesis. The purpose of this review is to describe the pathogenesis, genotype–phenotype correlation and tissue specificity of DICER1 syndrome. We conclude that there is a lack of knowledge about the exact molecular mechanisms of DICER1 function and more research is needed to determine the exact role of this altered protein in relation to pathogenesis. Full article

Background: Endometrioid ovarian carcinoma is a subtype of epithelial ovarian carcinoma and is the second most common type of malignant ovarian neoplasm. Studies investigating delayed treatment of ovarian cancer have identified significant impacts on overall survival rates. This study utilizes the Surveillance, Epidemiology, and End Results (SEER) database to identify cases of endometrioid ovarian carcinomas and factors associated with delays in time to treatment (TTT) greater than one month. Methods: The SEER database was queried to identify females with biopsy-confirmed cases of ovarian endometrioid carcinoma from 2010 to 2015. Chi-square tests, two-sided Fisher’s exact tests, and multivariable binary logistic regressions were completed using SPSS version 29.0.2. Statistical significance was confirmed when p < 0.05. Results: A total of 11,235 relevant patients were identified within the SEER database. A majority were Non-Hispanic White (69.2%), aged 50–59 (30.1%), had an annual income of $75,000+ (58.9%), resided in urban communities (90.0%), and were diagnosed with AJCC stage 1 disease (62.0%). When investigating treatment, 94.9% of patients received treatment within 1 month of diagnosis, while 5.1% experienced a delay of over 1 month before starting treatment. Multivariable binary logistic regression analysis demonstrated that American Indian and Alaksa Native (AIAN) patients independently experienced a +376% increased likelihood of treatment delays exceeding 1 month (aOR 4.76; 95% CI 1.32–17.08; p = 0.017). Patients diagnosed at AJCC stage III (aOR 1.88; 95% CI: 1.22–2.91; p = 0.004) or stage IV (aOR: 4.50; 95% CI: 2.75–7.38; p < 0.001) additionally had +88% and +350% higher odds of treatment delays greater than 1 month, respectively. Conclusions: AIAN patients and those presenting with later stage disease for endometrioid ovarian carcinoma face significantly longer TTT, indicating disparities in timely care. Our findings demonstrate an urgent need for targeted interventions to address systemic barriers contributing to delayed treatment in these populations. Full article

Purpose/Objective(s): Peritoneal carcinosis can occur in several gastrointestinal or gynecological malignancies and its prognosis is usually poor. With the advent of more effective systemic agents, the overall survival of metastatic patients has been revolutionized and isolated peritoneal or abdominal wall metastases might benefit from local treatments; Stereotactic Body Radiotherapy (SBRT) might be considered in selected patients with oligometastatic presentation. Materials/Methods: Oligometastases were defined according to recent ESTRO/EORTC consensus. Inclusion criteria were as follows: ECOG PS ≤ 2, written informed consent, up to five lesions to be treated at the same time, patients treated with radiotherapy schedules applying minimum 6 Gy per fraction. The primary endpoint of the study was local control (LC); acute and late toxicity, distant progression-free survival (DPFS), time-to-next systemic treatment (TNST), polymetastatic-free survival (PMFS) and overall survival (OS) were secondary endpoints. Toxicity was assessed according to CTCAE criteria v5.0. Statistical associations between clinical variables and outcomes were assessed using Fisher’s exact test, and Kruskal–Wallis test, as appropriate. Survival outcomes were estimated using the Kaplan–Meier method and compared using the log-rank test. Results: Between April 2020 and September 2024 a total of 26 oligometastatic lesions located in the peritoneum or in the abdominal wall detected in 20 patients received SBRT with Helical Tomotherapy. All cases have been assessed by a multidisciplinary team. Only in three patients out of twenty did more than one lesion receive SBRT: two lesions in two patients, and five lesions in a single case of colorectal cancer with ongoing third-line systemic treatment. Median total dose was 30 Gy (27–35 Gy) in five fractions (3–5). The most frequent primary neoplasm was ovarian cancer in 14/20, endometrial in 2/20, while the remaining were colorectal, vaginal, pancreatic and non-small cell lung cancer. Four lesions were located in the abdominal wall, while the remaining twenty-two were located in the peritoneum. Concurrent systemic therapy was administered in 18/20 patients. With a median follow-up of 15 months (range, 6–59), our 1-year LC was 100%, while 1-year DPFS, PMFS, TNTS and OS rates were 54%, 69%, 61% and 83%, respectively. Abdominal wall location and treatment of a subsequent oligometastatic recurrence with a second course of SBRT were both significantly associated with improved OS (p = 0.03 and p = 0.04, respectively). No G ≥ 3 adverse events occurred. Conclusion: Our preliminary data support the use of SBRT in selected cases of oligometastatic disease located in the peritoneum or in the abdominal wall with excellent results in terms of tolerability and promising clinical outcomes. Full article

Goblet cell adenocarcinomas (GCAs) are an exceedingly rare subtype of tumors, almost exclusively occurring in the appendix, and characterized by features overlapping both adenocarcinomas and neuroendocrine tumors (NETs), which has historically led to confusion and varied nomenclature. This study presents a comprehensive review of the literature highlighting particularities of this type of malignancy, starting from a rare case of a 54-year-old female operated on in our clinic for an appendiceal tumor, initially suspected to be a mucinous neoplasm based on colonoscopic biopsy, which was ultimately confirmed to be goblet cell adenocarcinoma on both intraoperative frozen section and definitive pathological examination. Exhibiting signs and symptoms associated with an abdominal mass, she underwent a right hemicolectomy with partial omentectomy for locally advanced, high-grade, invasive goblet cell adenocarcinoma of the appendix with lymphatic macro metastases and epiploic invasion, categorized as AJCC stage IVb carcinomatosis. The patient received FOLFOX adjuvant. Six months later, she required reoperation due to the progression of carcinomatosis, which was again confirmed histopathologically. A second-line oncological protocol comprising irinotecan, capecitabine, and bevacizumab was initiated. Given the rarity of GCAs and the absence of a consensus on nomenclature, classification, and diagnostic criteria, we conducted a comprehensive literature review to highlight current trends related to this entity, including its classification within different systems (Tang, Yozu, WHO, AJCC), as well as the therapeutic surgical approaches—ranging from simple appendectomy to extensive multiorgan resection, cytoreductive surgery (CRS) combined with hyperthermic intraperitoneal chemotherapy (HIPEC), and the use of systemic therapy. Adhering to these recommendations will enhance communication among pathologists, surgeons, and oncologists regarding the natural history and prognosis of this rare malignancy. Full article

Background/Objective: Radiotherapy for leukemia, the most common childhood malignancy, often exposes patients to radiation, increasing the risk of second malignancies, including thyroid cancer. To assess the incidence and survival outcomes of thyroid cancer after childhood acute lymphoblastic leukemia (ALL). Methods: We systematically reviewed articles reporting the incidence of thyroid cancer in childhood leukemia survivors (age at diagnosis < 18 years) published between 2000–2024 in Science Direct, PubMed, Google Scholar, CENTRAL, and EMBASE. The Newcastle Ottawa Scale was utilized to appraise the methodological quality of the included studies. Descriptive statistics and calculations of incidence were performed using Microsoft Excel. Results: The literature search yielded 1265 articles, of which 18 met the inclusion criteria. Data from 135,861 childhood cancer survivors, among whom 102,070 had a confirmed diagnosis of childhood leukemia, including ALL. The crude incidence of secondary malignancies after childhood leukemia was 10.1 per 1000 patients. Among these, 1.5 per 1000 patients developed second thyroid carcinomas. Overall, 14.6% of the second malignancies in childhood leukemia survivors were thyroid carcinomas, mostly of the papillary type. Survival rates after second thyroid cancer were 100% in all 11/18 studies reporting this outcome. Radiotherapy had been used as part of ALL treatments in 17/18 studies. The use of radiotherapy, female sex, and younger age at the diagnosis of primary ALL emerged as important risk factors for thyroid cancer. Conclusions: Thyroid carcinomas account for ~15% of secondary malignancies after childhood leukemia, with radiation remaining a significant risk factor despite its overall reduced use for the treatment of ALL in the last few decades. Importantly, survival rates remain high. Further research is warranted to determine the incidence and outcomes of thyroid cancer in childhood ALL survivors Full article

Malignant neoplasms constitute a substantial health concern for the human population, currently ranking as the second leading cause of mortality worldwide. In 2022, approximately 10 million deaths were attributable to cancer, and projections estimate that this number will rise to 35 million in 2050. Consequently, the development of effective cancer treatments and prevention strategies remains a primary focus of medical research. In this context, the impacts on the redox balance are being considered. The objective of this study was to present the current knowledge on oxidation and reduction processes in cancer. This review discloses the intricate and multifaceted interplay of oxidoreductive systems during carcinogenesis, which engenders discordant findings in the domain of tumor prevention and treatment. This study also examines the controversies surrounding the use of antioxidants, including their impact on other therapeutic interventions. The review offers a comprehensive overview of the existing knowledge on the subject, concluding that personalized and precise anticancer therapies targeting the redox processes can serve as both effective diagnostic and therapeutic tools. Full article

Background/Objectives: Mast cell tumors (MCTs) are the second most common malignant neoplasms in dogs. Histopathological grading and clinical staging are the main tools for estimating biological behavior and disease extent; thus, both are essential for therapeutic decision-making and prognostication. However, the biological behavior of MCTs in dogs is variable, and it sometimes deviates from expectations. In a previous study, we identified 12 transcripts whose expression profile allowed a clear distinction between Kiupel low-grade and high-grade cutaneous MCTs (cMCTs) and was associated with prognosis. Building on these findings, this study evaluated the predictive potential of these transcripts’ expression profiles in classifying cMCTs into low-grade and high-grade. Methods: A logistic regression classifier based on the expression profiles of the identified transcripts and able to classify cMCTs as low- or high-grade was developed and subsequently tested on a novel dataset of 50 cMCTs whose expression profiles have been determined in this study through qPCR. Results: The developed logistic regression classifier reaches an accuracy of 67% and an area under the receiver operating characteristic curve (AUC) of 0.76. Interestingly, the molecular classification clearly identifies stage-IV disease (90% true positive rate). Conclusions: qPCR analysis of these biomarkers combined with the machine learning-based classifier might serve as a tool to support cMCT clinical management at diagnosis. Full article

Uterine mesenchymal tumors (UMTs) are the second most common type of tumors within the uterus corpus after endometrial carcinomas. Among the UMTs, smooth muscle neoplasms are the most common subtype, followed by endometrial stromal sarcoma (ESS). ESSs are uncommon malignancies characterized by molecular heterogeneity and an aggressive behavior. Their management poses significant challenges, particularly for high-grade subtypes. Surgery is the primary intervention for localized disease, while the role of adjuvant therapies, including radiation and chemotherapy, must be better investigated. Hormonal therapy has shown efficacy in low-grade cases but limited success in high-grade tumors. Recent advancements in molecular profiling have revealed potential targets, offering promise for personalized treatments. However, novel therapeutic strategies are urgently needed to improve patient outcomes, particularly for advanced and recurrent disease. This review offers a perspective on the possible novel therapeutic approaches based on the most recent molecular analyses performed on endometrial stromal sarcomas. Full article

Purpose: Early treatment response assessments are crucial, and the results are known to better correlate with prognosis and survival outcomes. The present study was conducted to differentiate true progression (TP) from pseudoprogression (PsP) in long-term-surviving glioblastoma patients using our previously established multiparametric MRI-based predictive model, as well as to identify clinical factors impacting survival outcomes in these patients. Methods: We report six patients with glioblastoma that had an overall survival longer than 5 years. When tumor specimens were available from second-stage surgery, histopathological analyses were used to classify between TP (>25% characteristics of malignant neoplasms; n = 2) and PsP (<25% characteristics of malignant neoplasms; n = 2). In the absence of histopathology, modified RANO criteria were assessed to determine the presence of TP (n = 1) or PsP (n = 1). The predictive probabilities (PPs) of tumor progression were measured from contrast-enhancing regions of neoplasms using a multiparametric MRI-based prediction model. Subsequently, these PP values were used to define each lesion as TP (PP ≥ 50%) or PsP (PP < 50%). Additionally, detailed clinical information was collected. Results: Our predictive model correctly identified all patients with TP (n = 3) and PsP (n = 3) cases, reflecting a significant concordance between histopathology/modified RANO criteria and PP values. The overall survival varied from 5.1 to 12.3 years. Five of the six glioblastoma patients were MGMT promoter methylated. All patients were female, with a median age of 56 years. Moreover, all six patients had a good functional status (KPS ≥ 70), underwent near-total/complete resection, and received alternative therapies. Conclusions: Multiparametric MRI can aid in assessing treatment response in long-term-surviving glioblastoma patients. Full article

Even though children’s malignant bone tumours are rare, it is crucial to understand how to identify and stage them accurately to develop an appropriate treatment plan. Ewing’s sarcoma and osteosarcoma are the two main paediatric bone malignancies and require multidisciplinary treatment involving radiologists, orthopaedists, oncologists, pathologists, and paediatricians. These neoplasms may be associated with genetic syndromes but typically occur in patients with no known germline abnormalities. With a frequency of 4.4 per million, osteosarcoma is the most common malignant bone tumour in children. Ewing’s sarcoma has an incidence of 2.5 to 3 per million, making it the second most prevalent. Clinically, these neoplasms present with pain and inflammation in the bones and joints, nocturnal pain unresponsive to drug therapy, systemic symptoms such as fever or weight loss, and persistent symptoms—all of which should prompt clinicians to initiate further diagnostic investigations. The gold standard for diagnosis includes X-ray examination and MRI, which provide an accurate assessment of tumour extension into the medullary canal and surrounding soft tissues. Fluorine-18-labelled FDG-PET scans or fluoro-deoxyglucose positron emission tomography are valuable for evaluating tumour aggressiveness and excluding metastases. A biopsy is mandatory once all other diagnostic tests have been completed. Accurate diagnosis and timely referral to an experienced clinic are essential for ensuring prompt access to treatment and improving patient outcomes. Full article

Background/Objectives: The need for innovative cancer treatments has brought immunotherapies to the forefront as a promising approach, with therapeutic vaccines demonstrating the potential to mobilize immune cells to eliminate tumor cells. However, challenges such as genetic variability among patients, immune evasion mechanisms, and disease relapse contribute to the complexity of achieving an ideal therapy, especially for hematological cancers. This review systematically identifies and analyzes recent studies focused on the development of therapeutic immunotherapy vaccines, examining critical aspects such as development stages, key assays for therapeutic validation, treatment outcomes, and study limitations. Methods: A scoping review was conducted following the PRISMA extension guidelines (PRISMA-ScR). Literature searches were conducted across Scopus, PubMed, Web of Science, and Science Direct databases using keywords including “immunotherapy”, “vaccines”, “immunization”, “hematological malignancies”, “blood cancer”, “hematopoietic neoplasms”, and “leukemia”. Results: A total of 56 articles published from 2013 to 2024 were included in the analysis. The majority of studies are in the preclinical stage, with some advancing to phase 1 and phase 2 clinical trials. Acute myeloid leukemia emerged as the most frequently studied malignancy. While first- and second-generation vaccines dominate the field, innovative approaches, such as dendritic-cell-based vaccines and mRNA vaccines, are gaining prominence. Notably, preclinical models often demonstrate superior outcomes compared to clinical trials, as results observed in animal models are not fully replicated in human studies. Conclusions: Despite challenges related to disease progression and patient loss, the studies reviewed highlight significant advancements in patient prognosis, emphasizing the potential of novel therapeutic vaccines as an effective alternative for the treatment of hematological cancers. Full article

Objective: Childhood cancer survival rates have improved, but survivors face an increased risk of second malignant neoplasms (SMNs), particularly thyroid cancer. This study examines the demographic, clinical, genetic, and treatment characteristics of childhood cancer survivors who developed thyroid cancer as a second or third malignancy, emphasizing the importance of long-term surveillance. Methods: A retrospective review was conducted for childhood cancer survivors treated between 1990 and 2018 who later developed thyroid cancer as a second or third malignancy. Data on demographics, clinical characteristics, treatment, and outcomes were analyzed. Results: Among the 3204 childhood cancer survivors, 10 patients (6 female, 4 male) developed papillary thyroid carcinoma (PTC), a median of 9 years post-initial diagnosis. Radiation therapy, particularly to the head and neck, was commonly used. Genetic testing revealed mutations in the Cell Cycle CheckPoint Kinase 2 (CHEK2) and Adenomatous Polyposis Coli (APC) genes in four patients, possibly contributing to the increased risk. All were diagnosed through thyroid ultrasound and underwent total thyroidectomy, and three received radioactive iodine (RAI). No recurrences or deaths related to PTC occurred, with a median follow-up of 5.5 years after diagnosis. Conclusions: Radiation therapy, especially combined with chemotherapy, significantly increases the risk of thyroid cancer in childhood cancer survivors. Genetic predispositions also play a role. Lifelong thyroid cancer surveillance is essential, particularly for those who received radiation or chemotherapy. Further research is needed to refine surveillance strategies and better understand genetic factors that influence thyroid cancer risk. Early detection and ongoing monitoring are critical for improving long-term outcomes. Full article

Cholangiocarcinoma (CCA) is a malignant biliary system tumor and the second most common primary hepatic neoplasm, following hepatocellular carcinoma. CCA still has an extremely high unfavorable prognosis, regardless of type and location, and complete surgical resection remains the only curative therapeutic option; however, due to the underhanded onset and rapid progression of CCA, most patients present with advanced stages at first diagnosis, with only 30 to 60% of CCA patients eligible for surgery. Recent innovations in medical imaging combined with the use of radiomics and artificial intelligence (AI) can lead to improvements in the early detection, characterization, and pre-treatment staging of these tumors, guiding clinicians to make personalized therapeutic strategies. The aim of this review is to provide an overview of how radiological features of CCA can be analyzed through radiomics and with the help of AI for many different purposes, such as differential diagnosis, the prediction of lymph node metastasis, the defining of prognostic groups, and the prediction of early recurrence. The combination of radiomics with AI has immense potential. Still, its effectiveness in practice is yet to be validated by prospective multicentric studies that would allow for the development of standardized radiomics models. Full article

Alveolar rhabdomyosarcoma (aRMS) is a rare pediatric malignant tumor with a poor prognosis, particularly when located in the rhinopharynx and sphenoidal floor, which complicates diagnosis and increases the risk of misclassification as benign growths. The specific genotype of aRMS is associated with a worse clinical outcome. In young children, especially those aged 4 to 12 years, rhinopharyngeal masses are often attributed to chronic adenoiditis; however, other benign (e.g., angiofibroma in boys) and malignant tumors may also be present. Initial symptoms frequently include nasal obstruction, muco-purulent nasal discharge, serous otitis media, sinusitis, and epistaxis. Rhabdomyosarcoma is the second most common ENT neoplasm in children, following lymphoma, with an incidence of approximately 6 cases per 1,000,000 annually. This report presents the case of an 8-year-old boy diagnosed with aRMS, accompanied by a literature review. Alveolar rhabdomyosarcoma should be suspected in children presenting with a vegetative tumor in the rhinopharynx or paranasal sinuses. Combined treatment approaches (surgery, radiotherapy, and chemotherapy) should be tailored to tumor characteristics. Neuronavigation-guided functional endoscopic sinus surgery (FESS) is an effective option for achieving complete tumor excision, depending on tumor size and extent. The prognosis remains reserved and is contingent upon accurate evaluation and timely intervention. Rigorous follow-up, including endoscopic and imagistic investigation, is crucial for early detection of recurrences, thereby improving treatment outcomes. Full article