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Abstract：
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.
摘要：
临床肿瘤测序方案通常取决于从患者获得种系DNA以帮助识别肿瘤中的从头变异。因此伴随着偶然发现种系变异的可能性。91名成人淋巴瘤患者同意并登记在MIONCOSEQ，利用外显子组测序平台的IRB批准的肿瘤谱分析方案。从测序结果中回顾性审查了种系变异的图表，个人和/或家族癌症史和遗传咨询转诊。在回顾了91例淋巴瘤病例后，7例（8％）病例显示种系变异。只有其中一个,CHEK2p.I157T,先前已被恢复为淋巴瘤的种系变异。七名患者中有两名接受了遗传咨询，2人在遗传咨询安排之前死亡，3人没有接受遗传学提供者的随访。这些患者都没有个人或家族史，否则会提示癌症遗传学转诊的指征。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,因为七个患者中只有两个对他们的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.
