A Unique Case of Renal Carcinoma with Xp11.2 Translocations/TFE3 Gene Fusions in a 3-Year-old Child, with Coexistent von Hippel-Lindau Gene Mutation

2004 ◽  
Vol 7 (4) ◽  
pp. 403-406 ◽  
Author(s):  
Mana M. Parast ◽  
Grant Eudy ◽  
Kenneth W. Gow ◽  
Mahul Amin ◽  
Bahig Shehata
Keyword(s):  
Gene Mutation ◽  
Renal Carcinoma ◽  
Pediatric Population ◽  
Single Point ◽  
Single Point Mutation ◽  
Transcription Factor Gene ◽  
Unique Case ◽  
Vhl Gene ◽  
Von Hippel Lindau ◽  
Von Hippel Lindau Disease

Renal cell carcinomas (RCCs) are rare in the pediatric population; when they occur, a significant percentage are associated with specific cytogenetic abnormalities and germline mutations. These include mutations in the von Hippel-Lindau (VHL) gene and translocations involving the TFE3 transcription factor gene on Xp11.2. Here we report a case of a 3-year-old child with a large renal mass. Histologic examination of the tumor showed a predominantly nested growth pattern with some papillary foci. Cytogenetic analysis revealed a karyotype of t(X;1)(p11.2; p34.3), consistent with a TFE3-associated RCC. Interestingly, sequencing of the patient's VHL gene revealed a single point mutation, previously seen in a subgroup of patients with von Hippel-Lindau disease. This is the first reported case, to our knowledge, of t(X;1)-associated RCC in a patient with concurrent VHL gene mutation.

A novel heterozygous mutation in exon 3 of VHL gene leading to Von Hippel-Lindau disease in a Turkish family

2019 ◽  
Author(s):  
Ozge Tasgin Yildirim ◽  
Ismail Yildiz ◽  
Fatih Horozoglu ◽  
Aysun Gonen ◽  
Cenk Murat Yazici ◽  
...  
Keyword(s):  
Heterozygous Mutation ◽  
Vhl Gene ◽  
Von Hippel Lindau ◽  
Turkish Family ◽  
Von Hippel Lindau Disease

VHL gene inactivation in an endolymphatic sac tumor associated with von Hippel- Lindau disease

Neurology ◽  
1999 ◽  
Vol 53 (1) ◽  
pp. 208-208 ◽  
Author(s):  
N. Kawahara ◽  
H. Kume ◽  
K. Ueki ◽  
K. Mishima ◽  
T. Sasaki ◽  
...  
Keyword(s):  
Gene Inactivation ◽  
Endolymphatic Sac ◽  
Endolymphatic Sac Tumor ◽  
Vhl Gene ◽  
Von Hippel Lindau ◽  
Von Hippel Lindau Disease

Germline mutations in the von Hippel–Lindau disease (VHL) gene in mainland Chinese families

2008 ◽  
Vol 134 (11) ◽  
pp. 1211-1218 ◽  
Author(s):  
Jin Zhang ◽  
Yiran Huang ◽  
Jiahua Pan ◽  
Dongming Liu ◽  
Lixin Zhou ◽  
...  
Keyword(s):  
Germline Mutations ◽  
Chinese Families ◽  
Mainland Chinese ◽  
Vhl Gene ◽  
Von Hippel Lindau ◽  
Von Hippel Lindau Disease

Novel and recurrent germline mutations in the VHL gene in 5 Arab patients with Von Hippel-Lindau disease

2020 ◽  
Vol 243 ◽  
pp. 1-6
Author(s):  
Muhammad Faiyaz-Ul-Haque ◽  
Masood Jamil ◽  
Muhammad Aslam ◽  
Halah Abalkhail ◽  
Fouad Al-Dayel ◽  
...  
Keyword(s):  
Germline Mutations ◽  
Vhl Gene ◽  
Von Hippel Lindau ◽  
Von Hippel Lindau Disease

scholarly journals Identification of a VHL gene mutation in a Chinese family with Von Hippel‑Lindau syndrome

2018 ◽  
Author(s):  
Zhengwen He ◽  
Lu Xia ◽  
Zhiyong Deng ◽  
Aojie Lian ◽  
Zhengmao Hu ◽  
...  
Keyword(s):  
Gene Mutation ◽  
Chinese Family ◽  
Vhl Gene ◽  
Von Hippel Lindau ◽  
Von Hippel Lindau Syndrome

scholarly journals Non-Functioning Pheochromocytoma in a Patient With Von Hippel Lindau Syndrome (VHL): Case Report

2021 ◽  
Vol 5 (Supplement_1) ◽  
pp. A1002-A1002
Author(s):  
Gustavo Piech Ricardo ◽  
Nilza Scalissi ◽  
Cristina Bellotti Formiga Bueno ◽  
Renata Da Cunha Scalco ◽  
Jose Viana Lima
Keyword(s):  
Case Report ◽  
Adrenal Gland ◽  
Renal Carcinoma ◽  
Whole Body ◽  
Left Adrenal Gland ◽  
Vhl Gene ◽  
Von Hippel Lindau ◽  
Diagnostic Management ◽  
Exon 1 ◽  
Magnetic Resonance Imaging Mri

Abstract Background: We report the case of a patient with VHL Syndrome with an adrenal lesion compatible with non-functioning pheochromocytoma and it’s diagnostic management. Case Report: JMN, female, 32 years old, referred for screening for VHL syndrome, after diagnosis in a sister, who has clear cell renal carcinoma (ccRCC), cerebellar hemangioblastoma and genetic analysis, by next generation sequencing (NGS), which identified the allelic variant germline pathogenic c. 256C> T in heterozygosis in exon 1 of the VHL gene. The patient is asymptomatic and her physical examination is normal. Optic fundus examination with lesion suggestive of right hemangioblastoma. Family history: mother who died at 59 with a diagnosis of ccRCC, without genetic investigation. Maternal aunt diagnosed with VHL and involvement of the cerebellum, kidney and pancreas. Two brothers with genetic and clinical diagnosis of VHL syndrome, presenting pheochromocytoma and renal carcinoma. Laboratory tests: plasma metanephrine: 0.3 nmol/L (RV <0.5nmol/L), plasma normetanephrine: 0.5 nmol/L (RV <0.9nmol/L), chromogranin A 61 ng/mL (RV <93 ng/ml). Genetic evaluation by NGS identified the pathogenic variant c. 256C> T in heterozygosity in exon 1 of the VHL gene. Topographic examinations: magnetic resonance imaging (MRI) of adrenals with nodule in the left adrenal gland, hypersignal in T2, measuring 2.9 x 2.3 cm, suggestive of pheochromocytoma and whole body scintigraphy with metaiodobenzylguanidine (MIBG) positive in the left adrenal gland. She underwent resection of the tumor in the left adrenal, without complications. Anatomopathology compatible with pheochromocytoma with immunohistochemistry for ki67 <3%. Currently, the patient is clinically stable and with periodic follow-up, as well as family members, performing screening for diseases associated with VHL. Conclusion: VHL syndrome is one of the possible causes of non-functioning pheochromocytomas and paragangliomas, and adrenal lesions with negative metanephrine levels do not exclude them; thus highlighting the importance of exams such as CT or MRI and functional topographic studies (whole body scintigraphy with MIBG and / or PETCT with Galio68DOTA) for their diagnosis.

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