Mandryk Miłosz, Owoc-Lempach Joanna, Cecot Jakub, Zarzecki Konrad, Piasta Małgorzata, Wolska-Kolmus Magdalena, Marschollek Paweł, Mielcarek-Siedziuk Monika, Dembowska-Bagińska Bożenna, Kałwak Krzysztof
Pediatric, Hematology, Oncology and BMT, Wroclaw Medical University, Wroclaw, POL.
Medicine, Jan Mikulicz-Radecki University Clinical Hospital, Wroclaw, POL.
Cureus. 2024 Aug 8;16(8):e66441. doi: 10.7759/cureus.66441. eCollection 2024 Aug.
Constitutional mismatch repair deficiency (CMMRD) syndrome, caused by biallelic mutations in mismatch repair genes, is one of the most aggressive hereditary cancer syndromes. This report presents the clinical course of two brothers diagnosed with CMMRD. The first patient was diagnosed with T-cell lymphoma at the age of three and a half years, a relapse, and synchronous glioblastoma at the age of seven and a half years. After treatment with chemotherapy and neurosurgery, haematopoietic stem cell transplant (HSCT) was performed. The second patient was diagnosed with mediastinal T-cell lymphoma at the age of two and a half years and a relapse at the age of four and a half years. He also received chemotherapy and underwent HSCT. Both patients exhibited café au lait macules (CALMs), a common but non-specific feature of CMMRD, often confused with neurofibromatosis type 1 (NF1) syndrome. This study highlights the phenotype of CMMRD syndrome, associated cancers, and the potential benefits of stem cell transplantation. Previous reports suggest that allogeneic HSCT might reduce subsequent haematological malignancies and increase survival.
由错配修复基因双等位基因突变引起的体质性错配修复缺陷（CMMRD）综合征是最具侵袭性的遗传性癌症综合征之一。本报告介绍了两名被诊断为CMMRD的兄弟的临床病程。第一名患者在三岁半时被诊断为T细胞淋巴瘤，复发后，在七岁半时同时患有胶质母细胞瘤。在接受化疗和神经外科治疗后，进行了造血干细胞移植（HSCT）。第二名患者在两岁半时被诊断为纵隔T细胞淋巴瘤，在四岁半时复发。他也接受了化疗并进行了HSCT。两名患者均出现了牛奶咖啡斑（CALMs），这是CMMRD的常见但非特异性特征，常与1型神经纤维瘤病（NF1）综合征相混淆。本研究突出了CMMRD综合征的表型、相关癌症以及干细胞移植的潜在益处。先前的报告表明，异基因HSCT可能会减少后续血液系统恶性肿瘤并提高生存率。
