Renal carcinoma associated with a novel succinate dehydrogenase A mutation: a case report and review of literature of a rare subtype of renal carcinoma

摘要: Renal cell carcinoma (RCC) linked to germline mutation of succinate dehydrogenase subunits A, B, C, and D (SDHA, SDHB, SDHC, SDHD, respectively) has been recently included as a provisional entity in the 2013 International Society Urological Pathology Vancouver classification. Most SDH-deficient tumors show SDHB mutation, with only small number RCC SDHC or SDHD having reported date. Only one case renal known be SDHA mutated previously reported. Here we report an additional harboring occurring 62-year-old man right flank pain nodal metastasis. The tumor was characterized by infiltrative pattern solid, acinar, papillary components. Loss protein immunohistochemistry confirmed diagnosis. Hybrid capture-based comprehensive genomic profiling identified 3 alterations tissue: (i) novel single-nucleotide splice site deletion gene, (ii) NF2 (iii) EGFR gene amplification 19 copies. This is second SDHA-mutated RCC. With increased awareness, this rare can recognized on basis distinctive morphology confirmation profiling.