ret融合转移性结肠癌对赛尔珀卡替尼有应答- 1例报告。

IF 0.4 Q3 MEDICINE, GENERAL & INTERNAL
Oxford Medical Case Reports Pub Date : 2025-07-27 eCollection Date: 2025-07-01 DOI:10.1093/omcr/omaf120
William J Mullally, Michael Huo, Kenneth J O'Byrne
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引用次数: 0

摘要

我们提出的情况下,一位先生谁发展少转移性结肠癌在他的大脑一年后完成辅助化疗。随后的硬脑膜转移需要全脑放疗(WBRT)。全外显子组测序(WES)发现NCOA4-RET融合和高肿瘤突变负担。在WBRT后使用selpercatinib治疗多灶性硬脑膜转移导致最初的治疗反应,被3级转氨炎中断了两周,在此期间硬脑膜转移进展。以50%剂量恢复赛尔帕替尼可导致快速治疗反应并维持4个月,直到进一步的脑转移。我们的患者在最初诊断为转移性复发后存活了21个月,其中包括9个月的自泊替尼。该病例强调了分子肿瘤董事会会议和使用下一代测序WES检测罕见和靶向突变的重要性,最终改善了患者的预后。
本文章由计算机程序翻译,如有差异,请以英文原文为准。

RET-fusion metastatic colon cancer responding to selpercatinib-a case report.

RET-fusion metastatic colon cancer responding to selpercatinib-a case report.

We present the case of a gentleman who developed oligometastatic colon cancer in his brain one year after completing adjuvant chemotherapy. Subsequent dural metastasis necessitated whole brain radiation therapy (WBRT). Whole exome sequencing (WES) identified a NCOA4-RET fusion and high tumor mutation burden. Treatment with selpercatinib following WBRT for multifocal dural metastases led to an initial treatment response, interrupted by grade 3 transaminitis for two weeks, during which dural metastases progressed. Resuming selpercatinib at 50% dose led to a rapid treatment response and maintained for four months until further brain metastases. Our patient survived 21 months following initial diagnoses of metastatic recurrence including nine months of selpercatinib. This case underscores the importance of molecular tumor board meetings and the use of next-generation sequencing WES to detect rare and targetable mutations, ultimately improving patient outcomes.

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来源期刊
Oxford Medical Case Reports
Oxford Medical Case Reports MEDICINE, GENERAL & INTERNAL-
CiteScore
0.90
自引率
0.00%
发文量
125
审稿时长
19 weeks
期刊介绍: Oxford Medical Case Reports (OMCR) is an open access, peer-reviewed online journal publishing original and educationally valuable case reports that expand the field of medicine. The journal covers all medical specialities including cardiology, rheumatology, nephrology, oncology, neurology, and reproduction, comprising a comprehensive resource for physicians in all fields and at all stages of training. Oxford Medical Case Reports deposits all articles in PubMed Central (PMC). Physicians and researchers can find your work through PubMed , helping you reach the widest possible audience. The journal is also indexed in the Web of Science Core Collection . Oxford Medical Case Reports publishes case reports under the following categories: Allergy Audiovestibular medicine Cardiology and cardiovascular systems Critical care medicine Dermatology Emergency medicine Endocrinology and metabolism Gastroenterology and hepatology Geriatrics and gerontology Haematology Immunology Infectious diseases and tropical medicine Medical disorders in pregnancy Medical ophthalmology Nephrology Neurology Oncology Paediatrics Pain Palliative medicine Pharmacology and pharmacy Psychiatry Radiology, nuclear medicine, and medical imaging Respiratory disorders Rheumatology Sexual and reproductive health Sports Medicine Substance abuse.
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