ISSN: 2578-501X
Authors: Bajaj A*
Fumarate hydratase deficient renal cell carcinoma is an exceptionally discerned neoplasm which arises on account of germline mutations within fumarate hydratase (FH) gene. Commonly, clinical manifestations as non-renal leiomyomatosis may concur. Neoplasm is associated with autosomal dominant mode of disease transmission. Neoplasm may configure as a high grade, infiltrative lesion comprised of papillary articulations or solid sheets of neoplastic cells. Characteristically, tumour cells nuclei are pervaded with inclusion like nucleoli and demonstrate peri-nucleolar clearing. Neoplasm arises on account of oncogenesis triggered due to metabolic inconsistencies emerging as a consequence of defective fumarate hydratase enzyme. The high grade, infiltrative neoplasm articulating papillary structures or solid sheets is comprised of tumour cells incorporated with prominent cytomegalovirus (CMV) like nucleolar inclusions and foci of peri-nucleolar clearing. Neoplastic cells manifest overexpression and immunoreactivity to modified cysteine (2SC) along with decimation of fumarate hydratase enzyme.
Keywords: Fumarate Hydratase Enzyme; Neoplasm; Genomic Mutation; Heterozygosity; Unilateral
