TY - JOUR
T1 - Renal carcinoma associated with a novel succinate dehydrogenase A mutation
T2 - A case report and review of literature of a rare subtype of renal carcinoma
AU - Ozluk, Yasemin
AU - Taheri, Diana
AU - Matoso, Andres
AU - Sanli, Oner
AU - Berker, Neslihan Kayisoglu
AU - Yakirevich, Evgeny
AU - Balasubramanian, Sohail
AU - Ross, Jeffrey S.
AU - Ali, Siraj M.
AU - Netto, George J.
N1 - Publisher Copyright:
© 2015 Elsevier Inc.
PY - 2015/12
Y1 - 2015/12
N2 - Renal cell carcinoma (RCC) linked to germline mutation of succinate dehydrogenase subunits A, B, C, and D (SDHA, SDHB, SDHC, and SDHD, respectively) has been recently included as a provisional entity in the 2013 International Society of Urological Pathology Vancouver classification. Most SDH-deficient tumors show SDHB mutation, with only a small number of RCC with SDHC or SDHD having been reported to date. Only one case of SDH-deficient renal carcinoma known to be SDHA mutated has been previously reported. Here we report an additional RCC harboring an SDHA mutation occurring in a 62-year-old man with right flank pain and nodal metastasis. The tumor was characterized by an infiltrative pattern with solid, acinar, and papillary components. Loss of SDHA and SDHB protein by immunohistochemistry confirmed the diagnosis. Hybrid capture-based comprehensive genomic profiling identified 3 genomic alterations in tumor tissue: (i) a novel single-nucleotide splice site deletion in SDHA gene, (ii) single-nucleotide deletion in NF2 gene, and (iii) EGFR gene amplification of 19 copies. This is the second report of SDHA-mutated RCC. With increased awareness, this rare tumor can be recognized on the basis of distinctive morphology and confirmation by immunohistochemistry and genomic profiling.
AB - Renal cell carcinoma (RCC) linked to germline mutation of succinate dehydrogenase subunits A, B, C, and D (SDHA, SDHB, SDHC, and SDHD, respectively) has been recently included as a provisional entity in the 2013 International Society of Urological Pathology Vancouver classification. Most SDH-deficient tumors show SDHB mutation, with only a small number of RCC with SDHC or SDHD having been reported to date. Only one case of SDH-deficient renal carcinoma known to be SDHA mutated has been previously reported. Here we report an additional RCC harboring an SDHA mutation occurring in a 62-year-old man with right flank pain and nodal metastasis. The tumor was characterized by an infiltrative pattern with solid, acinar, and papillary components. Loss of SDHA and SDHB protein by immunohistochemistry confirmed the diagnosis. Hybrid capture-based comprehensive genomic profiling identified 3 genomic alterations in tumor tissue: (i) a novel single-nucleotide splice site deletion in SDHA gene, (ii) single-nucleotide deletion in NF2 gene, and (iii) EGFR gene amplification of 19 copies. This is the second report of SDHA-mutated RCC. With increased awareness, this rare tumor can be recognized on the basis of distinctive morphology and confirmation by immunohistochemistry and genomic profiling.
KW - Immunohistochemistry
KW - Renal carcinoma
KW - SDHA
KW - SDHB
KW - Succinate dehydrogenase
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U2 - 10.1016/j.humpath.2015.07.027
DO - 10.1016/j.humpath.2015.07.027
M3 - Article
C2 - 26476567
AN - SCOPUS:84947253599
SN - 0046-8177
VL - 46
SP - 1951
EP - 1955
JO - Human Pathology
JF - Human Pathology
IS - 12
ER -