A kidney angiomyolipoma associated with tuberous sclerosis is described. This rare tumor is sometimes asymptomatic and is found at autopsy, but in some cases it may be confounded with a malignant tumor, as in the present case. The authors consider the angiomyolipoma as a choristoma rather than as a true neoplasm.
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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 PDFGland Surg
December 2024
Department of Pathology, Seoul National University Bundang Hospital, Seongnam, Korea.
Background: A right adrenal gland may present in the form of adreno-hepatic fusion (AHF), in which the adrenal cells are interspersed among the hepatocytes without septation. This rare, naturally-occurring phenomenon may be associated with preoperative misdiagnosis. We present two cases of adrenal tumor in patients with AHF that were misdiagnosed, despite thorough preoperative work-ups.
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 PDFDiseases
December 2024
Department of Pediatrics, Dokkyo Medical University, Tochigi 321-0293, Japan.
Background: Tuberous sclerosis complex (TSC) is an autosomal dominant genetic disorder characterized by mutations in the TSC1 and TSC2 genes, leading to the dysregulation of the mammalian target of rapamycin (mTOR) pathway. This dysregulation results in the development of benign tumors across multiple organ systems and poses significant neurodevelopmental challenges. The clinical manifestations of TSC vary widely and include subependymal giant cell astrocytomas (SEGAs), renal angiomyolipomas (AMLs), facial angiofibromas (FAs), and neuropsychiatric conditions such as autism spectrum disorder (ASD).
View Article and Find Full Text PDFEinstein (Sao Paulo)
December 2024
Urology Department, Faculdade de Ciências Médicas da Santa Casa de São Paulo, São Paulo, SP, Brazil.
We report a case of computed tomography-guided percutaneous radiofrequency ablation of a bleeding renal angiomyolipoma. Radiofrequency ablation was performed as an alternative to partial nephrectomy and super-selective renal artery embolization for ruptured renal angiomyolipoma with slow persistent bleeding in a patient with elevated serum creatinine levels and other comorbidities. Computed tomography-guided radiofrequency ablation successfully stopped the active hemorrhage and did not affect long-term renal function during the 3-year follow period.
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