Discordance Between Cobas BRAF V600 Testing and VE1 Immunohistochemistry in a Melanoma Patient With Bone Marrow Metastases

被引:9
作者
Rapisuwon, Suthee [1 ]
Busam, Klaus J. [2 ]
Parks, Kellie [1 ]
Chapman, Paul B. [2 ]
Lee, Elsie [3 ]
Atkins, Michael B. [1 ]
机构
[1] Georgetown Univ, Lombardi Comprehens Canc Ctr, 3970 Reservoir Rd NW,NRB E501, Washington, DC 20057 USA
[2] Mem Sloan Kettering Canc Ctr, 1275 York Ave, New York, NY 10021 USA
[3] George Washington Univ, Washington, DC USA
关键词
melanoma; BRAF V600E; VE1; immunohistochemistry; IMPROVED SURVIVAL; OPEN-LABEL; FOLLOW-UP; MUTATION; BRAF(V600E); VEMURAFENIB; DABRAFENIB; PHASE-3; DNA;
D O I
10.1097/DAD.0000000000000660
中图分类号
R75 [皮肤病学与性病学];
学科分类号
100206 ;
摘要
False negative result remains an ongoing problem in direct gene sequencing of cancers. It is important to use the appropriate mutation detection method most appropriate to each circumstance and the available tissue. Here, we report a patient with melanoma of unknown primary with metastases to spleen and bone marrow, who was tested negative for Cobas BRAF V600E mutation, whose cancer progressed on antiprogrammed death 1 (PD1) receptor monoclonal antibody therapy. Subsequent VE1 immunohistochemistry was positive for BRAF V600E mutation, and the tumor responded dramatically to v-Raf murine sarcoma viral oncogene homolog B (BRAF)/Mitogen-activated protein kinase inhibitor combination therapy. This demonstrates how alternative BRAF testing methodology could produce results that can influence treatment choice and the outcome.
引用
收藏
页码:687 / 689
页数:3
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