帕唑帕尼在转移性孔癌中引发显著反应:一种功能精确的医学方法。

IF 1.8 Q3 MEDICINE, RESEARCH & EXPERIMENTAL Cold Spring Harbor Molecular Case Studies Pub Date : 2024-01-10 Print Date: 2023-12-01 DOI:10.1101/mcs.a006308
Sharon Pei Yi Chan, Chen Ee Low, Chun En Yau, Tzu Ping Lin, Weining Wang, Sam Xin Xiu, Po Yin Tang, Baiwen Luo, Nur Fazlin Bte Mohamed Noor, Kristen Alexa Lee, Jianbang Chiang, Tan Boon Toh, Edward Kai-Hua Chow, Valerie Shiwen Yang
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引用次数: 0

摘要

转移性多孔癌(PC)是一种极其罕见、高度侵袭性的皮肤附件肿瘤,死亡率超过70%。它们的罕见性阻碍了对其疾病发病机制的了解,更不用说进行临床试验来评估治疗策略了。目前还没有治疗不可切除PC的有效药物。在这里,我们成功地证明了在没有已知全身治疗方案的情况下,功能性精准药物是如何在临床上应用于转移性PC的。肿瘤标本的全面基因组分析没有产生任何可操作的基因组畸变。然而,离体药物测试预测了帕唑帕尼的疗效,事实上,帕唑帕尼布的给药引发了显著的临床病理反应。应评估帕唑帕尼及其类药物在其他PC病例中的疗效,并在PC肿瘤模型可用时确定疗效的基本原理。功能精确医学方法可能有助于获得罕见癌症的有效治疗选择。
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Pazopanib elicits remarkable response in metastatic porocarcinoma: a functional precision medicine approach.

Metastatic porocarcinomas (PCs) are vanishingly rare, highly aggressive skin adnexal tumors with mortality rates exceeding 70%. Their rarity has precluded the understanding of their disease pathogenesis, let alone the conduct of clinical trials to evaluate treatment strategies. There are no effective agents for unresectable PCs. Here, we successfully demonstrate how functional precision medicine was implemented in the clinic for a metastatic PC with no known systemic treatment options. Comprehensive genomic profiling of the tumor specimen did not yield any actionable genomic aberrations. However, ex vivo drug testing predicted pazopanib efficacy, and indeed, administration of pazopanib elicited remarkable clinicoradiological response. Pazopanib and its class of drugs should be evaluated for efficacy in other cases of PC, and the rationale for efficacy should be determined when PC tumor models become available. A functional precision medicine approach could be useful to derive effective treatment options for rare cancers.

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来源期刊
Cold Spring Harbor Molecular Case Studies
Cold Spring Harbor Molecular Case Studies MEDICINE, RESEARCH & EXPERIMENTAL-
CiteScore
3.20
自引率
0.00%
发文量
54
期刊介绍: Cold Spring Harbor Molecular Case Studies is an open-access, peer-reviewed, international journal in the field of precision medicine. Articles in the journal present genomic and molecular analyses of individuals or cohorts alongside their clinical presentations and phenotypic information. The journal''s purpose is to rapidly share insights into disease development and treatment gained by application of genomics, proteomics, metabolomics, biomarker analysis, and other approaches. The journal covers the fields of cancer, complex diseases, monogenic disorders, neurological conditions, orphan diseases, infectious disease, gene therapy, and pharmacogenomics. It has a rapid peer-review process that is based on technical evaluation of the analyses performed, not the novelty of findings, and offers a swift, clear path to publication. The journal publishes: Research Reports presenting detailed case studies of individuals and small cohorts, Research Articles describing more extensive work using larger cohorts and/or functional analyses, Rapid Communications presenting the discovery of a novel variant and/or novel phenotype associated with a known disease gene, Rapid Cancer Communications presenting the discovery of a novel variant or combination of variants in a cancer type, Variant Discrepancy Resolution describing efforts to resolve differences or update variant interpretations in ClinVar through case-level data sharing, Follow-up Reports linked to previous observations, Plus Review Articles, Editorials, and Position Statements on best practices for research in precision medicine.
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