Department of Pathology and Cell Biology, Columbia University Irving Medical Center/NewYork-Presbyterian Hospital, New York, NY.
Department of Medical Oncology, Columbia University Irving Medical Center/NewYork-Presbyterian Hospital, New York, NY.
Am J Clin Pathol. 2020 Jun 8;154(1):57-69. doi: 10.1093/ajcp/aqaa023.
To determine concordance/discordance between morphology and molecular testing (MT) among synchronous pulmonary carcinomas using targeted next generation sequencing (NGS), with and without comprehensive molecular review (CMR), vs analyses of multiple singe genes (non-NGS).
Results of morphologic and MT assessment were classified as concordant, discordant, or indeterminate. For discordant cases, comprehensive histologic assessment (CHA) was performed.
Forty-seven cases with 108 synchronous tumors were identified and underwent MT (NGS, n = 23 and non-NGS, n = 24). Histology and MT were concordant, discordant, and indeterminate in 53% (25/47), 21% (10/47), and 26% (12/47) of cases, respectively. CHA of the 10 discordant cases revised results of three cases.
There is discordance between histology and MT in a subset of cases and MT provides an objective surrogate for staging synchronous tumors. A limited gene panel is sufficient for objectively assessing a relationship if the driver mutations are distinct. Relatedness of mutations require CMR with a larger NGS panel (eg, 50 genes).
使用靶向下一代测序（NGS），并结合综合分子分析（CMR）和多个单基因分析（非 NGS），确定同步肺癌形态学和分子检测（MT）之间的一致性/不一致性。
将形态学和 MT 评估结果分为一致、不一致或不确定。对于不一致的病例，进行全面的组织学评估（CHA）。
确定了 47 例有 108 个同步肿瘤的患者，并进行了 MT（NGS，n=23；非 NGS，n=24）。组织学和 MT 在 53%（25/47）、21%（10/47）和 26%（12/47）的病例中分别为一致、不一致和不确定。10 例不一致病例的 CHA 修订了 3 例结果。
在一部分病例中，组织学和 MT 之间存在不一致，而 MT 为分期同步肿瘤提供了客观替代物。如果驱动突变明显，则有限的基因panel 足以客观评估关系。需要 CMR 结合更大的 NGS panel（例如 50 个基因）来确定突变的相关性。
