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多原发性恶性肿瘤中的BRAF V600E突变:一件棘手的事。

BRAF V600E Mutation in Multiple Primary Malignancies: A Hairy Affair.

作者信息

White Richard, Otaibi Zachary, Rao Rohit, Finley Gene

机构信息

Internal Medicine, Allegheny Health Network, Pittsburgh, USA.

Hematology & Oncology, Allegheny Health Network, Pittsburgh, USA.

出版信息

Cureus. 2018 Nov 16;10(11):e3600. doi: 10.7759/cureus.3600.

DOI:10.7759/cureus.3600
PMID:30680261
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC6338405/
Abstract

As the number of cancer survivors grows, so does the number of co-occurring primary malignancies and secondary malignancies. In rare cases, single driver mutations can be responsible for concomitant primary malignancies. By understanding the mechanisms that drive multiple primary malignancies (MPM), clinicians are capable of targeting molecular pathways that drive oncogenesis resulting in the successful treatment of many malignancies while also reducing the side effects of conventional chemotherapy. Herein, we report a case of co-occurring hairy cell leukemia (HCL) and malignant melanoma in a 69-year-old male. This patient tested positive for the BRAF V600E mutation and was initiated on a single agent, vemurafenib. He, unfortunately, succumbed to his illness before completion of his planned therapy course.  This case report is intended to highlight the rare co-occurrence of BRAF-positive HCL and melanoma and to encourage driver mutation evaluation when a patient presents with MPM and the possibility of a unifying driver mutation. To the best of our knowledge, this is the first case of a co-occurring BRAF positive melanoma and HCL to be reported in a chemotherapy-naïve patient.

摘要

随着癌症幸存者数量的增加,同时出现的原发性恶性肿瘤和继发性恶性肿瘤的数量也在增加。在罕见情况下,单一驱动突变可能导致同时发生的原发性恶性肿瘤。通过了解驱动多种原发性恶性肿瘤(MPM)的机制,临床医生能够靶向驱动肿瘤发生的分子途径,从而成功治疗多种恶性肿瘤,同时减少传统化疗的副作用。在此,我们报告一例69岁男性同时发生毛细胞白血病(HCL)和恶性黑色素瘤的病例。该患者BRAF V600E突变检测呈阳性,并开始接受单药维莫非尼治疗。不幸的是,他在完成计划的治疗疗程之前因病去世。本病例报告旨在强调BRAF阳性HCL和黑色素瘤罕见的同时发生情况,并鼓励在患者出现MPM且存在统一驱动突变可能性时进行驱动突变评估。据我们所知,这是首例在未接受过化疗的患者中报告的同时发生BRAF阳性黑色素瘤和HCL的病例。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/0e52/6338405/6155d310ebd7/cureus-0010-00000003600-i01.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/0e52/6338405/6155d310ebd7/cureus-0010-00000003600-i01.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/0e52/6338405/6155d310ebd7/cureus-0010-00000003600-i01.jpg

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BRAF p.V600E associated poly-neoplastic syndrome.BRAF基因第600位密码子缬氨酸突变为谷氨酸相关的多肿瘤综合征。
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