Androgen receptor splice variant-7 in breast cancer: clinical and pathologic correlations

Autor: Kerry Mullaney, Donna C. Ferguson, Tiffany A. Traina, Marc Ladanyi, Timothy Ky. Tay, Ryma Benayed, Edi Brogi, Maria E. Arcila, Douglas A. Mata, Sarat Chandarlapaty, Ayca Gucalp, Timothy M. D'Alfonso, Dara S. Ross
Rok vydání: 2022
Předmět:
Zdroj: Modern Pathology. 35:396-402
ISSN: 0893-3952
DOI: 10.1038/s41379-021-00924-5
Popis: Androgen receptor (AR) inhibitor therapy is a developing treatment for AR-positive breast cancer (BC) with ongoing clinical trials. AR splice variant-7 (AR-V7) is a truncated variant of AR that leads to AR inhibitor therapy resistance in prostate cancer; recent studies have identified AR-V7 in BC and theorized that AR-V7 can have a similar impact. This study assessed the prevalence and clinicopathologic features associated with AR-V7 in a large BC cohort. BC samples were evaluated by MSK-Fusion targeted RNAseq for AR-V7 detection and MSK-IMPACT targeted DNAseq, including triple-negative tumors with no driver alteration and estrogen receptor-positive/ESR1 wildtype tumors progressing on therapy. Among 196 primary and metastatic/recurrent cases (196 RNAseq, 194DNAseq), 9.7% (19/196) were AR-V7 positive and 90.3% (177/196) AR-V7 negative. All AR-V7 positive BC were AR-positive by immunohistochemistry (19/19). The prevalence of AR-V7 by receptor subtype (N = 189) was: 18% (12/67) in ER-/PgR-/HER2-negative BC, 3.7% (4/109) in ER-positive/HER2-negative BC, and 15.4% (2/13) in HER2-positive BC; AR-V7 was detected in one ER-positive/HER2-unknown BC. Apocrine morphology was observed in 42.1% (8/19) of AR-V7 positive BC and 3.4% (6/177) AR-V7 negative BC (P
Databáze: OpenAIRE
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