Human pathology · 2026
Detection of androgen receptor (AR) splice variants across diverse prostatic and non-prostatic tumor types using the TruSight Oncology 500 (TSO500) assay.
СтатьяНазвание и аннотация: Перевод в очереди
Обработка статьи · этапы, ошибки и управление
Загрузка состояния…
Ошибки и ограничения
История · было → стало
Состояние обновляется каждые 5 секунд, пока блок открыт. Процент показывается только там, где известен объём работы. Пауза останавливает продолжение этапа; текущий запрос к источнику может завершиться.
Pitel Beth A, Dasari Surendra, Pryzbylski Amber L, Childs Daniel S, Poljak Dijana, Keeney Michael, Geiersbach Katherine, Lucas Peter C, Orme Jacob J, Heath Elisabeth I, Whaley Rumeal D, Garcia Joaquin J, Erickson Lori A, Cheville John C, Shen Wei, Zheng Gang, Al-Kateb Hussam, Kipp Benjamin R, Halling Kevin C, Antonarakis Emmanuel S, Gupta Sounak
Аннотация
BACKGROUND: Androgen Receptor splice variants (AR-Vs) are known biomarkers of resistance to hormone therapy in prostate (CaP) and breast cancer (BC). However, pancancer interrogations of AR-Vs are lacking.
METHODS: The MayoComplete Solid Tumor Panel, with DNA and RNA subpanels targeting 515 and 55 genes, respectively, was used to profile 5573 solid tumors. Relevant clinicopathologic and molecular features were summarized for tumors with detectable AR-Vs.
RESULTS: AR-Vs were identified in 46 of 5573 (0.8%) tumors from 28 males and 18 females with a mean age of 68 years (range, 11 to 98). AR-Vs were enriched in CaP (24/132, 18.2%), BC (17/208, 8.2%), and salivary duct carcinomas (2/38, 5.3%), with rare occurrences in a lacrimal gland carcinoma and juvenile granulosa cell tumor. While AR-V7 was observed in all 46 tumors (100%), AR-V7 in the absence of other AR-Vs was seen in only 2 (of 46, 4.3%) tumors. Associated AR alterations in CaP included AR amplification (n = 3) and AR ligand binding domain (LBD) mutations (n = 2), while associated ESR1 variants in BC included ESR1 LBD mutations (n = 2) and ESR1 rearrangements (n = 2). Of patients with accessible medical records, 2/8 (25%) CaP patients had AR-Vs post-therapy with AR signaling inhibitors. Similarly, 5/6 (83.3%) BC patients had AR-Vs post-hormonal therapy. Notably, all 14 patients had multiple AR-V species.
CONCLUSIONS: Our results demonstrate enrichment of AR-Vs in prostate, breast, and salivary duct carcinomas, with rare occurrences in a lacrimal gland carcinoma and juvenile granulosa cell tumor. Multiple AR-Vs were frequently seen in the same tumor. Detection of AR-Vs may be clinically significant in prostate cancer and additional data is needed for other tumor types.
METHODS: The MayoComplete Solid Tumor Panel, with DNA and RNA subpanels targeting 515 and 55 genes, respectively, was used to profile 5573 solid tumors. Relevant clinicopathologic and molecular features were summarized for tumors with detectable AR-Vs.
RESULTS: AR-Vs were identified in 46 of 5573 (0.8%) tumors from 28 males and 18 females with a mean age of 68 years (range, 11 to 98). AR-Vs were enriched in CaP (24/132, 18.2%), BC (17/208, 8.2%), and salivary duct carcinomas (2/38, 5.3%), with rare occurrences in a lacrimal gland carcinoma and juvenile granulosa cell tumor. While AR-V7 was observed in all 46 tumors (100%), AR-V7 in the absence of other AR-Vs was seen in only 2 (of 46, 4.3%) tumors. Associated AR alterations in CaP included AR amplification (n = 3) and AR ligand binding domain (LBD) mutations (n = 2), while associated ESR1 variants in BC included ESR1 LBD mutations (n = 2) and ESR1 rearrangements (n = 2). Of patients with accessible medical records, 2/8 (25%) CaP patients had AR-Vs post-therapy with AR signaling inhibitors. Similarly, 5/6 (83.3%) BC patients had AR-Vs post-hormonal therapy. Notably, all 14 patients had multiple AR-V species.
CONCLUSIONS: Our results demonstrate enrichment of AR-Vs in prostate, breast, and salivary duct carcinomas, with rare occurrences in a lacrimal gland carcinoma and juvenile granulosa cell tumor. Multiple AR-Vs were frequently seen in the same tumor. Detection of AR-Vs may be clinically significant in prostate cancer and additional data is needed for other tumor types.