Search Results (51)

Background: We present an interesting case involving a tumour comprising both basal cell tumour cells and sarcomatoid tumour cells. An 86-year-old woman presented with an erythematous lesion on her left cheek. Clinical and dermoscopic findings suggested BCC. Complete excision and histopathological examination revealed a BCC with a separate proliferation of atypical spindle and epithelioid cells. Immunohistochemical staining supported the diagnosis, with basaloid cells positive for CK5/6 and Ber-EP4 and sarcomatoid cells positive for CD10 and vimentin. Results: Histology and immunohistochemistry confirmed a basal cell carcinoma with sarcomatoid differentiation. The close proximity of sarcomatoid cells to the BCC component suggests a potential role of epithelial–mesenchymal interactions in tumour development. Further investigations into the exact origin of this tumour are required. Conclusion: Basal cell carcinoma with sarcomatoid differentiation is rare. This case highlights the importance of thorough histological and immunohistochemical evaluation. Further studies are necessary to better understand the pathogenesis of such collision tumours. Full article

Primary hepatic gastrointestinal stromal tumours (PHGISTs) are rare and frequently misdiagnosed due to their atypical presentation and uncertain origin. The purpose of this article is to present the case of a 79-year-old female patient with a gigantic PHGIST characterized by a predominantly cystic nature—an extremely rare presentation, as most cases of PHGIST are solid. Despite extensive imaging and exploratory laparotomy, the primary origin remained uncertain, leading to questioning about whether it was a true primary hepatic GIST or an atypical metastatic lesion. The initial therapeutic approach involved a surgical procedure aimed to confirm the diagnosis and achieve reductive tumourectomy. Following the surgery, the patient was administered imatinib with a favourable clinical response for four and a half years—an atypical pattern of resistance, as most patients typically develop therapeutic resistance within two to three years. A second surgical intervention was performed to address a cystic lesion localized in the left hepatic lobe, followed by an atypical segment III hepatectomy to achieve macroscopic resection. Subsequently, the patient received sunitinib for two and a half years, which resulted in temporary disease stabilization. However, the sunitinib treatment was associated with hypertension and leukopenia. The patient’s overall survival was 8 years, suggesting that individualized therapeutic strategies and close monitoring might be the key in such cases. Furthermore, this case confirms the role of surgical intervention even in advanced disease stages, with multiple major resections contributing significantly to prolonged survival. The interplay between surgical and oncologic therapies remains essential to guiding clinical decisions. Given the unusual cystic presentation, this case highlights the necessity to expand the pathological and molecular profiling of PHGISTs. Furthermore, the atypical timeline of resistance development and treatment-related toxicity emphasizes the importance of further research into the genetic and pharmacological determinants of PHGISTs. These findings advocate for the refinement of diagnostic, therapeutic, and surveillance protocols tailored to rare GIST subtypes. Full article

Background/Objectives: This study aimed to develop a reliable scoring system combining clinical and radiological parameters to distinguish atypical lipomatous tumours (ALTs) from lipomas, improving diagnostic accuracy and reducing expensive molecular pathology testing. Methods: A retrospective analysis of 188 patients who underwent surgery for lipomatous tumours was conducted. Patient data, including medical history, pathology, and MRI imaging results, were reviewed. Four predictive models were developed using various clinical and imaging parameters, including age, tumour size, location, and MRI characteristics (homogeneity, contrast enhancement). Statistical analysis, including ROC curve analysis and logistic regression, was performed to assess the accuracy of these models. Results: The highest predictive accuracy was achieved with Model 1, which included seven parameters, yielding an AUC of 0.952. This model achieved a sensitivity of 96.4% and a negative predictive value (NPV) of 97.2%. Reducing the number of parameters lowered the accuracy, with contrast enhancement playing a significant role in Model 1. A risk calculator based on the optimal model was developed, offering an effective tool for clinical use that can be provided. Notably, 21 out of 37 ALTs lacked atypia and would have been missed without molecular testing. Conclusions: The developed scoring system, based on clinical and imaging parameters, accurately distinguishes ALTs from lipomas, offering a practical alternative to molecular pathology testing. This multi-parameter approach significantly improves diagnostic reliability, reducing the risk of misclassification and false negatives, while also potentially lowering healthcare costs. Full article

Background and Objectives: Upper tract urothelial carcinoma (UTUC) is one of the most underdiagnosed but, at the same time, one of the most lethal cancers. In this review article, we investigated the application of artificial intelligence and novel technologies in the prompt identification of high-grade UTUC to prevent metastases and facilitate timely treatment. Materials and Methods: We conducted an extensive search of the literature from the Pubmed, Google scholar and Cochrane library databases for studies investigating the application of artificial intelligence for the diagnosis of UTUC, according to the PRISMA guidelines. After the exclusion of non-associated and non-English studies, we included 12 articles in our review. Results: Artificial intelligence systems have been shown to enhance post-radical nephroureterectomy urine cytology reporting, in order to facilitate the early diagnosis of bladder recurrence, as well as improve diagnostic accuracy in atypical cells, by being trained on annotated cytology images. In addition to this, by extracting textural radiomics features from data from computed tomography urograms, we can develop machine learning models to predict UTUC tumour grade and stage in small-size and especially high-grade tumours. Random forest models have been shown to have the best performance in predicting high-grade UTUC, while hydronephrosis is the most significant independent factor for high-grade tumours. ChatGPT, although not mature enough to provide information on diagnosis and treatment, can assist in improving patients’ understanding of the disease’s epidemiology and risk factors. Computer vision models, in real time, can augment visualisation during endoscopic ureteral tumour diagnosis and ablation. A deep learning workflow can also be applied in histopathological slides to predict UTUC protein-based subtypes. Conclusions: Artificial intelligence has been shown to greatly facilitate the timely diagnosis of high-grade UTUC by improving the diagnostic accuracy of urine cytology, CT Urograms and ureteroscopy visualisation. Deep learning systems can become a useful and easily accessible tool in physicians’ armamentarium to deal with diagnostic uncertainties in urothelial cancer. Full article

Neuroendocrine neoplasms (NENs) comprise a group of tumours that can develop in various internal organs, but in this review, we will describe only those arising in the lungs, thyroid, and thymus. Pulmonary neuroendocrine neoplasms (pulmonary NENs) account for approximately 25% of all lung cancers. They are classified into four groups of tumours: typical carcinoids (TCs), atypical carcinoids (ACs), small cell lung carcinoma, and large cell lung carcinoma. This review focuses on TC and AC. The treatment consists mainly of radiotherapy, chemotherapy, and surgical resection, but novel drugs like atezolizumab are also utilised. The most common neuroendocrine neoplasm of the thyroid gland is medullary thyroid carcinoma (MTC), which commonly possesses RET protooncogene mutations. MTC is treated by a total thyroidectomy. Recently, tyrosine kinase inhibitors (TKIs) have emerged as an effective treatment option for patients with advanced MTC. Neuroendocrine tumours of the thymus (NETTs) are also being treated with a radical surgery. Full article

Background/Objectives: Prostatic lymphoma is a rare malignant tumour that frequently causes urinary tract obstruction. It is uncommon for patients to present with systemic features or B-symptoms. As a result, it is often diagnosed incidentally during surgical lower urinary tract symptoms (LUTS) treatment. This systematic review aims to identify any common clinical features of prostatic lymphoma diagnosed incidentally during surgical LUTS treatment and summarise disease treatment and outcomes. Methods: The study protocol was registered with Prospective Register of Systematic Reviews (PROSPERO). A search was performed across the following electronic databases: MEDLINE, Embase, Web of Science, and Cochrane Database of Systematic Reviews. Full texts of eligible studies were analysed and data were extracted. The review was performed in accordance with PRISMA guidelines. Results: A total of 24 case reports compromising 25 cases were included. The median (IQR) age was 67 (61–73) years. All patients reported LUTS as their primary complaint, and the median duration of LUTS prior to diagnosis was 17 (4–44) months. Serum prostate-specific antigen (PSA) was normal in 10 cases and prostatomegaly present on imaging in 16 cases. A total of 10 different subtypes of lymphoma were reported. Extra-prostatic involvement was reported in eight patients. Chemotherapy, with or without adjuvant radiotherapy, was the mainstay of lymphoma treatment. The majority of articles reported positive outcomes, with complete remission in 17 cases. Conclusions: Prostatic lymphoma is a difficult clinical diagnosis due to its similar presentation to benign prostatic hyperplasia (BPH). Although rare, prostatic lymphoma may need to be considered as a diagnosis in patients with an atypical presentation of BPH. Prognosis is often favourable after prompt referral to haematology or oncology. Full article

Background: Borderline ovarian tumours (BOTs) are a unique subset of epithelial ovarian neoplasms characterised by atypical epithelial proliferation without stromal invasion. BOTs are typically diagnosed at an early stage, primarily affect women of reproductive age, and have a favourable prognosis. This study aims to evaluate the clinical characteristics, surgical management, and outcomes of BOTs in a North East London cohort. Methods: A retrospective, multicentric analysis was conducted on 69 patients with histologically confirmed BOTs managed between January 2018 and December 2022 across the Barts Health NHS Trust hospitals. Clinical and demographic data, surgical details, histopathological findings, and recurrence rates were analysed. We used descriptive and exploratory statistical methods. Results: The mean age at diagnosis was 44 years, with 46.37% under 40, including 18 nulliparous women. Most tumours (91.3%) were FIGO stage I, with mucinous histology predominating (56.52%), followed by serous BOTs (27.53%). Ultrasound and MRI demonstrated 65.45% and 81.5% sensitivities for borderline or malignant features, respectively. Surgical approaches included open surgery (75.4%), laparoscopy (17.4%), and robotic-assisted procedures (2.9%). Fertility-sparing surgery (FSS) was performed in all nulliparous women under 40 years of age. Recurrence occurred in 2 cases, both in patients with prior FSS performed over a decade earlier. Conclusions: FSS is a viable option for young women, especially if nulliparous and under the age of 40, with recurrence rates comparable to radical procedures. Most patients were diagnosed early (FIGO I) with excellent prognoses. MRI proved most sensitive for diagnosis, while long-term follow-up with transvaginal ultrasound and CA-125 monitoring is crucial for detecting recurrences. Full article

Background and Clinical Significance: Abnormal uterine bleeding during the postmenopausal years is a pathological sign that may be due to simultaneous intrauterine and ovarian pathology. Granulosa cell tumours of the ovary are malignant neoplasms producing oestradiol, which leads to the abnormal proliferation of the endometrium, precancerous lesions, and endometrial carcinoma type I. Case Presentation: The authors present a clinical case of a 67-year-old woman with postmenopausal bleeding who underwent a total abdominal hysterectomy with bilateral adnexectomy, pelvic lymphadenectomy, and partial omentectomy. The histopathological examination showed a granulosa cell adult-type ovarian tumour and a malignant endometrial polyp with atypical hyperplasia of the endometrium. Conclusions: The immunohistochemical analysis of the malignant endometrial polyp confirmed the expression of oestrogen, progesterone receptors, and the biomarker Ki-67. Full article

Parathyroid pathologies are suspected based on the biochemical alterations and clinical manifestations, and the predominant roles of imaging in primary hyperparathyroidism are localisation of tumour within parathyroid glands, surgical planning, and to look for any ectopic parathyroid tissue in the setting of recurrent disease. This article provides a comprehensive review of embryology and anatomical variations of parathyroid glands and their clinical relevance, surgical anatomy of parathyroid glands, differentiation between multiglandular parathyroid disease, solitary adenoma, atypical parathyroid tumour, and parathyroid carcinoma. The roles, advantages and limitations of ultrasound, four-dimensional computed tomography (4DCT), radiolabelled technetium-99 (^99mTc) sestamibi or dual tracer ^99mTc pertechnetate and ^99mTc-sestamibi with or without single photon emission computed tomography (SPECT) or SPECT/CT, dynamic enhanced magnetic resonance imaging (4DMRI), and fluoro-choline positron emission tomography (¹⁸F-FCH PET) or [¹¹C] Methionine (¹¹C -MET) PET in the management of parathyroid lesions have been extensively discussed in this article. The role of fluorodeoxyglucose PET (FDG-PET) has also been elucidated in this article. Management guidelines for parathyroid carcinoma proposed by the American Society of Clinical Oncology (ASCO) have also been described. An algorithm for management of parathyroid lesions has been provided at the end to serve as a quick reference guide for radiologists, clinicians and surgeons. Full article

Cone-beam computed tomography (CBCT) remains the diagnostic modality of choice. The involvement of the cortical bone and adjacent teeth can be easily established via CBCT. Magnetic resonance can be helpful in the estimation of any other soft-tissue tumour spread within this anatomical area. The soft, hard-tissue, or mixed aetiology of tumours requires a differential diagnosis and accurate evaluation. If such pathologies arise, an adequate biopsy or incisional biopsy is essential to evaluate the type of tumour histopathologically. The occurrence of some neural tumours in the oral cavity is rare. Schwannomas (SCs), like some neuromas and other types of neural tumours, are rare and atypical. During clinical examination, a smooth, sponge-like, elastic mass could indicate other small salivary gland tumours rather than an oral neural tumour. Such pathologies of neural origins are quite rare and are uncommon findings in the oral cavity; therefore, their appearance may be conflated with other more typical benign or malignant tumours in the oral cavity. Establishing the status of bone via CBCT, the tooth involvement and the composition of the cortical bone may be helpful for establishing the best treatment of choice. The presented case report describes a rare schwannoma localised at the mandibular retromolar trigone. Full article

Lung cancer is among the most common oncological diseases regarding incidence and mortality, with most of these having epithelial origins. Pathological reporting of these tumors is conducted according to the 5th edition of the World Health Organisation (WHO) classification of thoracic tumours. This study aims to draw the pathologist’s attention to four rare, atypical microscopic aspects that some of the most common types of lung malignancies reveal upon standard evaluation (hematoxylin-eosin stain) that make histopathological diagnosis challenging: acantholytic, pseudoangiosarcomatous, signet ring cell, and clear cell features. Each of these aspects was exemplified by a case diagnosed in the pathology department of the “Marius Nasta” Institute. Furthermore, we analyzed the classification dynamics of different WHO editions and used PubMed to review articles written in English and published in the last eleven years on this subject. Pathologists should be familiar with these unusual aspects to avoid misdiagnoses and to ensure the correct classification of tumors, which is extremely important because these tumor phenotypes have been associated with specific molecular alterations and a worse clinical evolution. There is a need to clarify the histogenesis and associated genetic mutations, given the fact that the rarity of these tumor phenotypes makes their study difficult. Some authors consider these to be overlapping entities; however, we do not encourage this, as they may exhibit different prognoses and various molecular alterations with important therapeutic implications. The signet ring cell feature was associated with ALK rearrangement in lung adenocarcinoma; thus, these patients can benefit from tailored therapy with ALK-tyrosine kinase inhibitors (ALK-TKI). Recent studies associated clear cell morphology with FGFR3-TACC3 fusion, suggesting that patients with this diagnosis may be potentially eligible for FGFR inhibitors. We described, for the first time, the pseudoangiosarcomatous pattern in a case of lung adenocarcinoma; to our knowledge this aspect has only been described until now in the context of squamous cell carcinomas. Full article

Objective: The aim of this study is to determine MRI features that may be prognostic indicators of local recurrence (LR) in patients treated with curettage and cementation of atypical cartilaginous tumours (ACTs) in the appendicular skeleton. Materials and Methods: This study is a retrospective review of adult patients with histologically confirmed appendicular ACT. The data collected included age, sex, skeletal location and histology from curettage, the presence of LR and oncological outcomes. The pre-operative MRI characteristics of the ACT reviewed by a specialist MSK radiologist included lesion location, lesion length, degree of medullary filling, bone expansion, cortical status and the presence of soft tissue extension. Results: A total of 43 patients were included, including 9 males and 34 females with a mean age of 42.8 years (range: 25–76 years). Tumours were located in the femur (n = 19), humerus (n = 15), tibia (n = 5), fibula (n = 2) and radius and ulna (n = 1 each). A total of 19 lesions were located in the diaphysis, 12 in the metadiaphysis, 6 in the metaphysis and 6 in the epiphysis. The mean tumour length was 61.0 mm (range: 12–134 mm). The mean follow up was 97.7 months (range: 20–157 months), during which 10 (23.3%) patients developed LR, 7 (70%) of which were asymptomatic and 3 (30%) of which presented with pain. Four patients required repeat surgery with no associated death or evidence of metastatic disease. LR was significantly commoner with tumours arising in the epiphysis or metadiaphysis, but no MRI features were predictive of LR. Conclusions: No relationship was found between the apparent ‘aggressiveness’ of an ACT of the appendicular skeleton on MRI and the development of LR following treatment with curettage and cementation. Full article

Background: Parathyroid cancer (PC) is a rare sporadic or hereditary malignancy whose histologic features were redefined with the 2022 WHO classification. A total of 24 Italian institutions designed this multicenter study to specify PC incidence, describe its clinical, functional, and imaging characteristics and improve its differentiation from the atypical parathyroid tumour (APT). Methods: All relevant information was collected about PC and APT patients treated between 2009 and 2021. Results: Among 8361 parathyroidectomies, 351 patients (mean age 59.0 ± 14.5; F = 210, 59.8%) were divided into the APT (n = 226, 2.8%) and PC group (n = 125, 1.5%). PC showed significantly higher rates (p < 0.05) of bone involvement, abdominal, and neurological symptoms than APT (48.8% vs. 35.0%, 17.6% vs. 7.1%, 13.6% vs. 5.3%, respectively). Ultrasound (US) diameter >3 cm (30.9% vs. 19.3%, p = 0.049) was significantly more common in the PC. A significantly higher frequency of local recurrences was observed in the PC (8.0% vs. 2.7%, p = 0.022). Mortality due to consequences of cancer or uncontrolled hyperparathyroidism was 3.3%. Conclusions: Symptomatic hyperparathyroidism, high PTH and albumin-corrected serum calcium values, and a US diameter >3 cm may be considered features differentiating PC from APT. 2022 WHO criteria did not impact the diagnosis. Full article

We present the case of a 62-year-old patient who developed melenas and in whom conventional endoscopic tests could not detect any bleeding lesion. In our case, capsule endoscopy and enteroscopy were the pivotal elements in establishing the diagnosis of a neuroendocrine tumour with an atypical location. As a result, it was possible to surgically remove the lesions at an early stage of the malignancy without metastatic disease and without the need for adjuvant therapy. Our case demonstrates the need for these new techniques in tumours of atypical location and aggressive course. Otherwise, this malignancy may be underdiagnosed until an advanced stage. Full article

Objectives: to analyse the clinical–pathological characteristics, treatment, and evolution of uterine smooth muscle tumours with uncertain malignant potential (STUMP) diagnosed in the Salamanca University Hospital with the implementation of the 2014 WHO criteria. Materials and methods: a retrospective descriptive study of patients diagnosed with STUMP from January 2015 to March 2023 at the Salamanca University Hospital. Demographic data, preoperative clinical data, treatment, complications, therapeutic results, anatomopathological findings and recurrence time were obtained. Results: a total of four patients were identified and included in the study. The mean age at diagnosis was 48 years (range 36–67). The surgical indications were abnormal uterine bleeding, compressive symptoms, and the growth of a pelvic mass suspected to be a degenerated myoma from the residual cervix after a subtotal hysterectomy 6 years earlier. In all cases, a laparotomic procedure was performed. A total hysterectomy, sub-total hysterectomy, and the excision of the cervix with STUMP localization were accomplished in two, one, and one patient, respectively. The mean diameter of the tumour pieces was 13 cm (range 8–17 cm), with a mean volume of 816 cc (range 234–1467 cc). The mean follow-up was 47 months, with no recurrence to date. Conclusions: STUMPs are a heterogeneous group of tumours with a difficult-to-predict clinical evolution. In most cases, their diagnosis is histological after performing surgery for suspected leiomyoma. Due to their low incidence, there are no specific guidelines for their treatment and control. However, considering their potential risk of recurrence and metastasis, it is advisable to maintain six-monthly controls for 5 years and then annual controls for 5 years more. Full article