研究动态
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基于病理诊断的临床癌症下一代测序成功率: 单一学术实验室的经验。

The success rates of clinical cancer next-generation sequencing based on pathologic diagnosis: Experience from a single academic laboratory.

发表日期:2023 Aug 06
作者: Katherine Latham, Fei Dong
来源: AMERICAN JOURNAL OF CLINICAL PATHOLOGY

摘要:

本文旨在建立病理诊断与癌症下一代测序测试成功率之间的关系。对实体肿瘤进行了临床下一代测序结果的回顾。成功测序的成功率在肿瘤类型及相关变量的背景下进行了分析。在683个标本中,有533个(78.0%)进行了成功测序。卵巢癌的成功率为91.8%,非小细胞肺癌为87.5%,结肠直肠腺癌为82.0%,黑色素瘤为78.3%,乳腺癌为75.9%,胰腺腺癌为64.7%。对于成功进行测序的标本,与其他肿瘤类型相比,胰腺腺癌的中位肿瘤比例及体细胞RAS和TP53突变等位基因分数较低。对于胰腺腺癌细胞学标本,成功率为33.3%(5/15),对于肺癌细胞学标本,成功率为93.3%(14/15)。与原发部位的组织相比,转移部位的组织显示了胰腺腺癌的更高成功率,而结肠直肠腺癌和黑色素瘤的成功率较低。癌症下一代测序测试的成功率取决于病理诊断、组织部位和诊断程序。了解哪些标本更容易在分子测试中失败,可以帮助病理学家和临床护理团队优化病人护理的组织获取和使用。© The Author(s) 2023. Published by Oxford University Press on behalf of American Society for Clinical Pathology. All rights reserved. For permissions, please e-mail: journals.permissions@oup.com.
This article aims to establish the relationship between pathologic diagnosis and the rate of success in cancer next-generation sequencing testing.Clinical next-generation sequencing results performed for solid tumors were reviewed. The rate of success was analyzed in the context of tumor type and accompanying variables.Out of 683 total specimens, 533 (78.0%) underwent successful sequencing. The rate of success was 91.8% for ovarian carcinomas, 87.5% for lung non-small cell carcinomas, 82.0% for colorectal adenocarcinomas, 78.3% for melanomas, 75.9% for breast carcinomas, and 64.7% for pancreatic adenocarcinomas. For specimens that successfully underwent sequencing, pancreatic adenocarcinomas had the lowest median tumor proportion and somatic RAS and TP53 mutation allele fractions compared with other tumor types. Cytology specimens had a 33.3% success rate for pancreatic adenocarcinomas (5 of 15) and a 93.3% success rate for lung carcinomas (14 of 15). Compared with tissue from primary sites, tissue from metastatic sites showed a higher success rate for pancreatic adenocarcinomas and lower success rates for colorectal adenocarcinomas and melanomas.The success rate of cancer next-generation sequencing testing is dependent on pathologic diagnosis, tissue site, and diagnostic procedure. Understanding which specimens are at higher risk for failing molecular testing may help pathologists and clinical care teams optimize tissue acquisition and usage for patient care.© The Author(s) 2023. Published by Oxford University Press on behalf of American Society for Clinical Pathology. All rights reserved. For permissions, please e-mail: journals.permissions@oup.com.