Department of Pathology, Massachusetts General Hospital, Boston, MA, US.
Department of Pathology, Brigham and Women's Hospital, Boston, MA, US.
Am J Clin Pathol. 2023 Nov 2;160(5):533-539. doi: 10.1093/ajcp/aqad092.
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.
本文旨在建立病理诊断与癌症下一代测序检测成功率之间的关系。
回顾了对实体肿瘤进行的临床下一代测序结果。根据肿瘤类型和伴随变量分析了成功率。
在 683 个总标本中，有 533 个（78.0%）进行了成功的测序。卵巢癌的成功率为 91.8%，非小细胞肺癌为 87.5%，结直肠癌为 82.0%，黑色素瘤为 78.3%，乳腺癌为 75.9%，胰腺癌为 64.7%。对于成功进行测序的标本，与其他肿瘤类型相比，胰腺癌的肿瘤比例中位数、体细胞 RAS 和 TP53 突变等位基因分数最低。细胞学标本中胰腺癌的成功率为 33.3%（15 例中有 5 例），肺癌的成功率为 93.3%（15 例中有 14 例）。与原发部位的组织相比，转移部位的组织胰腺癌的成功率更高，结直肠癌和黑色素瘤的成功率更低。
癌症下一代测序检测的成功率取决于病理诊断、组织部位和诊断程序。了解哪些标本更有可能分子检测失败，可能有助于病理学家和临床护理团队优化组织采集和使用，以满足患者的护理需求。
