World Journal of Pharmaceutical
and Medical Research

( An ISO 9001:2015 Certified International Journal )

An International Peer Reviewed Journal for Pharmaceutical and Medical Research and Technology
An Official Publication of Society for Advance Healthcare Research (Reg. No. : 01/01/01/31674/16)
ISSN 2455-3301
IMPACT FACTOR: 6.842

ICV : 78.6

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SJIF Impact Factor: 6.842

Abstract

MIT FAMILY TRANSLOCATION RENAL CELL CARCINOMA, REPORT CASE

*A. Kbirou, C. Waffar, A. Ettanji, M. Rkik, Y. Fadel, M. Modeste, H. Lachhab, Y. Daghdagh, Saleh, M. Dakir, A. Debbagh, R. Aboutaib

ABSTRACT

Renal cell carcinomas (RCCs) are a heterogeneous group of cancers. Translocation-associated renal cell carcinoma (t-RCC) is a relatively uncommon subtype of renal cell carcinoma characterized by recurrent gene rearrangements involving the TFE3 or TFEB loci. TFE3 and TFEB are members of the microphthalmia transcription factor (MiT) family, which regulates differentiation in melanocytes and osteoclasts, and MiT family gene fusions activate unique molecular programs that can be detected immunohistochemically. Here we report a case of 17-year old girl presenting right lumbar mass. Abdominal ultrasound and computed tomography revealed heterogeneous renal mass invading the liver with hepatic, ganglionic and bone metastases. Histopathology revealed MiT Family Translocation-Associated Renal Cell Carcinoma. The patient was treated with targeted therapy because surgery is impossible.

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