Angiomyolipomas are the most common benign mesenchymal tumours of the kidney. Most of the angiomyolipomas in adults are asymptomatic and discovered incidentally. We report a case in a symptomatic 55 yrs old male who had a huge retroperitoneal mass abdomen and in whom diagnosis and organ of origin remained unclear until operation and histopathological study was performed. Radiological and fine needle aspiration cytology (FNAC) report of a malignant retroperitoneal tumour was given, but histological examination of the respective tumorous mass showed a benign renal tumour - angiomyolipoma. Our emphasis by reporting this case is to make cytopathologists and radiologists aware of such kind of diagnostic pitfall encountered while reporting retroperitoneal masses.
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BMJ Case Rep
January 2025
Medicine, Government Medical College Kota, Kota, Rajasthan, India.
This case report presents markedly different clinical and radiological manifestations of the same disease in a family over three consecutive generations with varying treatment strategies. The index case/proband primarily presented with gastrointestinal symptoms, including diarrhoea, bleeding per rectum and seizures. Further evaluation revealed bilateral renal angiomyolipoma and cerebral subependymal nodules, in conjunction with facial adenoma sebaceum, periungual fibromas and hypomelanotic ash-leaf macules.
View Article and Find Full Text PDFObjective: To analyze clinical and radiological features and trends in the management pattern of renal angiomyolipomas (AML) in a tertiary care center over a 30-year period.
Patients And Methods: We retrospectively reviewed the charts of patients referred to our institutions from 1992 to 2022 with final diagnosis of AML. Demographics, clinical presentation, radiological findings, renal function status, and treatment options were recorded.
Ann Diagn Pathol
January 2025
Stanford Medical Center; Stanford, CA, United States of America.
Gamna-Gandy (GG) bodies are sclerosiderotic nodules composed of iron pigment and calcium, that have been described predominantly in the spleens of patients with sickle cell disease. Their formal depiction in the kidney is mainly limited to case reports and small series. We aimed to investigate the incidence of GG bodies and associated clinicopathologic features in consecutive nephrectomies performed for renal tumors.
View Article and Find Full Text PDFEpilepsia
January 2025
Department of Neurosciences, Faculty of Medicine, Université de Montréal, Montreal, Quebec, Canada.
Objective: Tuberous sclerosis complex (TSC) is a monogenetic disorder associated with sustained mechanistic target of rapamycin (mTOR) activation, leading to heterogeneous clinical manifestations. Epilepsy and renal angiomyolipoma are the most important causes of morbidity in adult people with TSC (pwTSC). mTOR is a key player in inflammation, which in turn could influence TSC-related clinical manifestations.
View Article and Find Full Text PDFDiagn Pathol
January 2025
Department of Diagnostic Pathology, National Cancer Center Hospital, 5-1-1 Tsukiji, Chuo-ku, Tokyo, 104-0045, Japan.
Background: Perivascular epithelioid cell tumors (PEComas) rarely appear in the head and neck region. This case report describes two transcription factor E3 (TFE3)-rearranged PEComa cases, consisting of one in the orbit and one in the nasal cavity.
Case Presentation: Both cases demonstrated sheet-like or focal nested architecture and comprised epithelioid cells with abundant clear to eosinophilic cytoplasm and vascular stroma.
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