Department of Human Genetics, Radboud University Medical Center, Radboud Institute for Molecular Life Sciences, Nijmegen, The Netherlands.
Department of Tumor Immunology, Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, Nijmegen, The Netherlands.
Eur J Hum Genet. 2018 Oct;26(10):1417-1423. doi: 10.1038/s41431-018-0197-0. Epub 2018 Jun 14.
Constitutional MisMatch Repair Deficiency (CMMRD) is caused by homozygous or compound heterozygous germline variants in one of the mismatch repair (MMR) genes (MSH2, MSH6, PMS2, MLH1). This syndrome results in early onset colorectal cancer, leukemia and lymphoma, brain tumors and other malignancies. Children with CMMRD are at high risk of developing multiple cancers and cancer surveillance does not guarantee detection of cancer at a curable stage. The development of a preventive treatment strategy would be a major step forward. Long-term daily use of acetylsalicylic acid (ASA) has been shown to reduce cancer risk in individuals with Lynch syndrome (LS). LS is caused by heterozygous germline variants of MSH2, MSH6, PMS2 and MLH1 and characterized by an increased risk of developing colorectal and endometrial cancer at adult age. Here we discuss the potential use of ASA for cancer prevention in patients with CMMRD.
错配修复缺陷综合征（CMMRD）是由同源或复合杂合的错配修复（MMR）基因（MSH2、MSH6、PMS2、MLH1）中的种系变异引起的。这种综合征会导致结直肠癌、白血病和淋巴瘤、脑肿瘤和其他恶性肿瘤的早发。CMMRD 患儿发生多种癌症的风险较高，癌症监测并不能保证在可治愈阶段检测到癌症。制定预防治疗策略将是向前迈出的重要一步。长期每天使用乙酰水杨酸（ASA）已被证明可以降低林奇综合征（LS）患者的癌症风险。LS 是由 MSH2、MSH6、PMS2 和 MLH1 的杂合种系变异引起的，其特征是成年后患结直肠癌和子宫内膜癌的风险增加。在这里，我们讨论了 ASA 用于预防 CMMRD 患者癌症的潜在用途。
