Results 11 to 20 of about 7,602 (131)

Delayed Diagnosis of Tuberous Sclerosis Complex Presenting as Abnormal Uterine Bleeding: A Case Report and Literature Review. [PDF]

Clin Case Rep
ABSTRACT Tuberous sclerosis complex (TSC) is a rare multisystem genetic disorder characterized by the development of hamartomatous lesions in multiple organs. Although neurologic and dermatologic manifestations commonly lead to diagnosis during childhood, some patients remain undiagnosed until adulthood because of atypical presentations.
Bezabih KT, Belay HS, Kebede ML, Aderu AK, Gebreyes MD, Jibicho KH, Talemahu AA, Merid EF, Tukeni KN.   +8 more
europepmc   +2 more sources

Late-Onset Diagnosis of Tuberous Sclerosis Complex Revealed by Renal Angiomyolipoma: A Case Report. [PDF]

Clin Case Rep
ABSTRACT Tuberous sclerosis complex (TSC) is a rare autosomal dominant disorder characterized by multisystem hamartomas caused by pathogenic variants in TSC1 or TSC2. It is typically diagnosed in childhood, most often because of neurological or dermatological manifestations.
Fekih A, Heni W, Messaoudi C, Selmi Y, Touati D, Elloumi Z, Labidi J.   +6 more
europepmc   +2 more sources

<i>ASPSCR1: TFE3</i> Fusion-Positive Epithelioid Angiomyolipoma/PEComa Lacking Melanocytic Markers: A Case Report. [PDF]

IJU Case Rep
ABSTRACT Introduction Epithelioid angiomyolipoma is a rare perivascular epithelioid cell tumor subtype with malignant potential. Its morphology mimics renal cell carcinoma, posing diagnostic challenges. Half of these cases harbor TSC1/TSC2 alterations, and a small subset features TFE3 rearrangements, mutually exclusive of TSC mutations.
Kondo Y, Nagashima Y, Zennami K, Sato M, Sumiyoshi S, Sugimoto A, Isomura M, Takahara K, Minamiguchi S.   +8 more
europepmc   +2 more sources

Tuberous Sclerosis Complex (Bourneville-Pringle Disease) With Congenitally Right Solitary Kidney in a 14-Year-Old Male Adolescent. [PDF]

Clin Case Rep
ABSTRACT The coexistence of tuberous sclerosis complex (TSC) with a congenital solitary kidney is exceptionally rare and worsens prognosis. This combination increases the risk of renal failure, requiring meticulous monitoring, tailored surveillance, and renal preservation strategies.
Dagnaw AL, Alemayehu AM, Dejen GH, Abejehu AA, Kassie KW.   +4 more
europepmc   +2 more sources

Mapping the Tissue Architecture and Endothelial‐PEC Network in HAML Using Single‐Cell and Spatial Transcriptomics [PDF]

Cancer Sci
Spatial multi‐omics mapping of hepatic angiomyolipoma reveals that PEComas tightly co‐localize with endothelial cells, which drive autophagic flux in adjacent tumor cells via a paracrine PDGFD–PDGFRB–Ras axis, establishing a compensatory survival network that operates in parallel to canonical TSC–mTOR defects.
Liu X, Guo Y, Tie X, Liu Y, Li F, Liu J, Sun X, Zhao J, Geng F, Liang Y.   +9 more
europepmc   +2 more sources

Differentiation of Fat-Poor Renal Angiomyolipoma From Clear Cell Renal Cell Carcinoma: Diagnostic Performance of a Novel Type of Color Contrast Enhanced Ultrasound. [PDF]

Cancer Med
Our study confirms CPI can distinguish AML.wovf from ccRCC, potentially helping patients with AML.wovf avoid unnecessary surgery. These findings expand CPI's clinical utility, providing a promising tool for diagnosing renal tumors. ABSTRACT Background The similar imaging characteristics of renal angiomyolipoma without visible fat (RAML.wvf) and clear ...
Du Y, Wang X, Jiang B, Song L, Luo Y, Li Q.   +5 more
europepmc   +2 more sources

Angiomyolipoma have common mutations in TSC2 but no other common genetic events. [PDF]

PLoS ONE, 2011
Renal angiomyolipoma are part of the PEComa family of neoplasms, and occur both in association with Tuberous Sclerosis Complex (TSC) and independent of that disorder.
Wei Qin, Vineeta Bajaj, Izabela Malinowska, Xin Lu, Laura MacConaill, Chin-Lee Wu, David J Kwiatkowski   +6 more
doaj   +1 more source

Retroperitoneal Angiomyolipoma: A Case Report and Review of the Literature

Case Reports in Radiology, 2013
Retroperitoneal angiomyolipoma is a rare tumour that is difficult to diagnose preoperatively. We present a case of retroperitoneal angiomyolipoma that highlights its diagnostic dilemma.
Andrew Strahan, Jonathan King, Scott McClintock   +2 more
doaj   +1 more source

Angiomyolipoma of the broad ligament

Autopsy and Case Reports, 2021
Angiomyolipoma is a benign mesenchymal neoplasm of the renal parenchyma, accounting for 1% of all renal parenchymal tumors. However, this entity may rarely occur in extrarenal sites.
Satya Dutta, Evarisalin Marbaniang, Biswajit Dey, Bifica Sofia Lyngdoh, Vandana Raphael   +4 more
doaj  

An Unusual Combination of Biliary Cystadenoma and Renal Angiomyolipoma- A Case Report [PDF]

Journal of Clinical and Diagnostic Research, 2016
Hepatobiliary cystadenomas are mucinous cystic neoplasms arising in the liver, extrahepatic bile ducts or gall bladder. Extrahepatic cystadenomas are rare neoplasms requiring complete excision as there is a chance for recurrence and malignant ...
Sheeja Sainulabdeen, Renu Thambi, Sylvia Syriac, Anil Kumar   +3 more
doaj   +1 more source