Kroeze Emma, Weijers Dilys D, Hagleitner Melanie M, de Groot-Kruseman Hester A, Jongmans Marjolijn C J, Kuiper Roland P, Pieters Rob, Meijerink Jules P P, Loeffen Jan L C
Princess Máxima Center for Pediatric Oncology, Utrecht, The Netherlands.
Department of Genetics, University Medical Center Utrecht, The Netherlands.
Hemasphere. 2021 Dec 21;6(1):e668. doi: 10.1097/HS9.0000000000000668. eCollection 2022 Jan.
This study describes the clinical characteristics of a complete Dutch T-cell lymphoblastic lymphoma (T-LBL) cohort, including second primary malignancies and comorbidities. We show that over 10% of patients in this complete T-LBL cohort have been diagnosed with a cancer predisposition syndrome (CPS), consisting almost exclusively of constitutional mismatch repair deficiency (CMMRD). The clinical characteristics of sporadic T-LBL patients were compared with T-LBL patients that have been diagnosed with CMMRD. This shows that disease presentation is comparable but that disease localization in CMMRD patients might be more localized. The percentage of CPS seems reliable considering the completeness of the cohort of Dutch T-LBL patients and might even be an underestimation (possibility of undiagnosed CPS patients in cohort). As the frequency of an underlying predisposition syndrome among T-LBL patients may be underestimated at present, we advocate for screening all pediatric T-LBL patients for the presence of germline mutations in mismatch repair genes.
本研究描述了一个完整的荷兰T细胞淋巴母细胞淋巴瘤（T-LBL）队列的临床特征，包括第二原发性恶性肿瘤和合并症。我们发现，在这个完整的T-LBL队列中，超过10%的患者被诊断患有癌症易感综合征（CPS），几乎全部由遗传性错配修复缺陷（CMMRD）组成。将散发性T-LBL患者的临床特征与已诊断为CMMRD的T-LBL患者进行了比较。这表明疾病表现具有可比性，但CMMRD患者的疾病定位可能更局限。考虑到荷兰T-LBL患者队列的完整性，CPS的百分比似乎是可靠的，甚至可能被低估了（队列中可能存在未被诊断的CPS患者）。由于目前T-LBL患者中潜在易感综合征的发生率可能被低估，我们主张对所有儿童T-LBL患者进行错配修复基因种系突变筛查。
