Clinical tumor sequencing protocols often depend on obtaining germline DNA from patients to aid in the identification of de novo variants in the tumor, and therefore come with the possibility for the incidental discovery of germline variants. Ninety-one adult patients with lymphoma were consented and enrolled in MIONCOSEQ, an IRB-approved tumor profiling protocol that utilizes an exome sequencing platform. Charts were retrospectively reviewed for germline variants from sequencing results, personal and/or family history of cancer and genetic counseling referral. After review of the 91 lymphoma cases, seven (8%) cases revealed germline variants. Only one of these, CHEK2 p.I157T, has been previously recovered as a germline variant in lymphoma. Two of the seven patients received genetic counseling, two died before genetic counseling could be arranged and three did not follow-up with a genetics provider. None of the patients had a personal or family history that would have otherwise suggested an indication for cancer genetics referral, especially notable as lymphoma is not traditionally associated with inherited cancer syndromes. Importantly, as only two of seven patients had appropriate genetic counseling for their variant, timely genetic counseling should be a critical part of all tumor profiling platforms that use non-tumor DNA.

临床肿瘤测序方案通常依赖于从患者身上获取种系 DNA，以帮助识别肿瘤中的从头变异，因此有可能偶然发现种系变异。91 名成年淋巴瘤患者同意并参加 MIONCOSEQ，这是一种 IRB 批准的肿瘤分析方案，利用外显子组测序平台。对来自测序结果、个人和/或家族癌症史以及遗传咨询转诊的生殖系变异的图表进行了回顾性审查。在对 91 例淋巴瘤病例进行审查后，7 例 (8%) 病例揭示了种系变异。其中只有一个，CHEK2 p.I157T，以前作为淋巴瘤中的种系变体被发现。七名患者中有两名接受了遗传咨询，两人在可以安排遗传咨询之前死亡，三人没有与遗传学提供者进行后续跟进。没有患者有个人或家族史，否则会提示癌症遗传学转诊的适应症，尤其值得注意的是，淋巴瘤传统上与遗传性癌症综合征无关。重要的是，由于 7 名患者中只有 2 名对其变异进行了适当的遗传咨询，及时的遗传咨询应该是所有使用非肿瘤 DNA 的肿瘤分析平台的关键部分。