1 research outputs found
Succinate Dehydrogenase-Deficient Renal Cancer Featuring Fructose-1,6-Biphosphatase Loss, Pyruvate Kinase M2 Overexpression, and SWI/SNF Chromatin Remodeling Complex Aberrations: A Rare Case Report
Succinate dehydrogenase (SDH)-deficient renal cancer is
a rare renal cancer subtype recently accepted by the
World Health Organization as a unique subtype of renal
cell carcinoma (RCC). Here we report a case of 17-year old man. The detailed evaluation indicated occurrence
of the SDHB-deficient RCC. The genetic testing revealed
no germline mutation in SDH genes. Immunohistochemistry showed SDHB deficiency, overexpression of pyruvate kinase M2 and dramatic downregulation of
fructose-1,6-bisphosphatase metabolic enzymes, and
unaltered levels of phosphorylated AMP-activated
protein kinase and mammalian target of rapamycin.
Strong upregulation of INI1 and BRG1 and overexpression of BAF180, subunits of SWI/SNF ATP-dependent chromatin remodeling complex, were also
found. The identified tumor pathologically did not
resemble clear cell renal cell carcinoma (ccRCC), but
some metabolic alterations are common for both cancer
types. Thus, we postulate that the phenotypical differences between ccRCC and SDHB-deficient RCC may be
related to distinct molecular and metabolic alterations