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一名携带胚系突变且同时患有卵巢癌和子宫癌患者的体细胞肿瘤特征分析

Somatic Tumor Profile Analysis in a Patient with Germline Mutation and Synchronous Ovarian and Uterine Carcinomas.

作者信息

Huelsman Karen M, Basil Jack B, Sisson Rebecca, Lipe Lindsay R, Mahon Brett, Draper David J

机构信息

TriHealth Cancer Institute, Cincinnati, OH 45220, USA.

Cincinnati Children's Hospital Medical Center, Cincinnati, OH 45229, USA.

出版信息

J Pers Med. 2021 Jul 5;11(7):634. doi: 10.3390/jpm11070634.

Abstract

Lynch syndrome patients with synchronous endometrial and ovarian cancer (SEOC) are rare. When these cases occur, they are most often endometrioid histology and early grade. Early-grade tumors are not often sent for somatic tumor profiling. We present a 39 year old SEOC patient with germline Lynch syndrome and clinical tumor analysis leading to insight regarding the origin and cause of these tumors, with potential therapy options. -related SEOC is less common due to lower risks for these cancers associated with germline mutation compared to other Lynch genes. While synchronous cancers are not common, they are more likely to occur with Lynch syndrome. Tumor profiling with next-generation sequencing of 648 genes identified sixteen shared somatic actionable and biologically relevant mutations. This case is a rare example of a patient with germline Lynch syndrome with shared somatic variants that demonstrate clonality of the two tumors arising from one common site.

摘要

患有同步性子宫内膜癌和卵巢癌(SEOC)的林奇综合征患者较为罕见。当出现这些病例时,它们大多为子宫内膜样组织学类型且分级较早。早期分级的肿瘤通常不会送去进行体细胞肿瘤分析。我们报告了一名39岁患有胚系林奇综合征的SEOC患者,并对其进行了临床肿瘤分析,从而深入了解这些肿瘤的起源和病因以及潜在的治疗方案。与林奇综合征相关的SEOC不太常见,因为与其他林奇基因相比,这些癌症与胚系突变相关的风险较低。虽然同步性癌症并不常见,但它们更有可能与林奇综合征一起出现。对648个基因进行下一代测序的肿瘤分析确定了16个共同的体细胞可操作且具有生物学相关性的突变。该病例是一个罕见的例子,即患有胚系林奇综合征的患者具有共同的体细胞变异,表明这两种肿瘤起源于一个共同部位且具有克隆性。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/cdc4/8307264/9bee78d3c649/jpm-11-00634-g001.jpg

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