Shaukat Zunaira, Wali Rabia
Pediatric Oncology, Shaukat Khanum Memorial Cancer Hospital and Research Centre, Lahore, PAK.
Cureus. 2020 Dec 15;12(12):e12092. doi: 10.7759/cureus.12092.
Constitutional mismatch repair deficiency (CMMRD) is an autosomal recessive disorder caused by biallelic mutations in DNA mismatch repair genes 1. These patients have clinical stigmata of neurofibromatosis 1 (NF-1) with childhood onset of hematological malignancies, high grade gliomas, and colorectal-cancers 2. We present a case of non-Hodgkin's lymphoma (NHL) who later on developed adenocarcinoma colon at an age of 11 years with significant family history of glioblastoma in elder brother and colonic cancer in mother. This is the first case of CMMRD in Pakistan who developed colonic neoplasm at the age of 11 years. Nearly 150 patients of CMMRD have been reported worldwide.
先天性错配修复缺陷（CMMRD）是一种常染色体隐性疾病，由DNA错配修复基因双等位基因突变引起。这些患者具有1型神经纤维瘤病（NF-1）的临床特征，伴有儿童期血液系统恶性肿瘤、高级别胶质瘤和结直肠癌。我们报告了一例非霍奇金淋巴瘤（NHL）患者，该患者11岁时患结肠腺癌，其哥哥有胶质母细胞瘤家族史，母亲有结肠癌家族史。这是巴基斯坦首例11岁时发生结肠肿瘤的CMMRD病例。全球已报告了近150例CMMRD患者。
