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首页> 外文期刊>BMC Medical Genomics >Concurrent somatic KRAS mutation and germline 10q22.3-q23.2 deletion in a patient with juvenile myelomonocytic leukemia, developmental delay, and multiple malformations: a case report
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Concurrent somatic KRAS mutation and germline 10q22.3-q23.2 deletion in a patient with juvenile myelomonocytic leukemia, developmental delay, and multiple malformations: a case report

机译：少年骨髓单核细胞白血病，发育迟缓和多种畸形患者并发体细胞KRAS突变和种系10q22.3-q23.2缺失

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The proto-oncogene KRAS performs an essential function in normal tissue signaling, and the mutation of KRAS gene is a key step in the development of many cancers. Somatic KRAS mutations are often detected in patients with solid and non-solid tumors, whereas germline KRAS mutations are implicated in patients with the Noonan syndrome, cardio-facio-cutaneous (CFC) syndrome and Costello syndrome. The deletion of chromosome 10q22.3-q23.2 is a rare cytogenetic abnormality, which often leads to distinct facial appearance and delays in speech and global development. Herein, we report the case of a 4-year-old boy diagnosed with juvenile myelomonocytic leukemia. The boy also had syndromic features, such as speech and motor developmental delay, multiple congenital malformations, including distinct facial features, club feet, and cryptorchidism. Using whole-exome sequencing, we identified a pathogenic mutation in KRAS [c.34G?>?A, p.Gly12Ser] isolated from peripheral blood DNA. Sanger sequencing confirmed the wild-type sequence in the parents and patient’s salivary cell DNA indicating its somatic state. A 7311-kb deletion in 10q22.3-q23.2 was also revealed by chromosomal microarray analysis, which was later proved as a germline de novo variant. Juvenile myelomonocytic leukemia in the patient was attributed to a somatic KRAS mutation, whereas the syndromic features of the patient were considered a consequence of germline chromosome 10q22.3-q23.2 deletion. Genetic testing for patients with complicated phenotypes can be valuable in detecting multiple pathogenic variants.
机译：原癌基因KRAS在正常组织的信号传导中起着至关重要的作用，而KRAS基因的突变是许多癌症发展的关键步骤。实体瘤和非实体瘤患者经常检测到体细胞KRAS突变，而Noonan综合征，心-皮肤-皮肤（CFC）综合征和Costello综合征患者则涉及种系KRAS突变。染色体10q22.3-q23.2的缺失是一种罕见的细胞遗传学异常，通常会导致明显的面部外观以及言语和整体发育的延迟。在此，我们报告了一个4岁男孩被诊断​​患有少年骨髓单核细胞白血病的病例。该男孩还具有综合症特征，例如言语和运动发育延迟，多种先天性畸形，包括明显的面部特征，棍脚和隐睾症。使用全外显子组测序，我们从外周血DNA中分离出了KRAS的致病突变[c.34G→> A，p.Gly12Ser]。 Sanger测序证实了父母和患者唾液细胞DNA中的野生型序列，表明其体细胞状态。染色体微阵列分析还揭示了10q22.3-q23.2中的7311-kb缺失，后来被证明是新种系。患者的少年单核细胞白血病归因于体细胞KRAS突变，而患者的综合征特征被认为是种系染色体10q22.3-q23.2缺失的结果。对具有复杂表型的患者进行基因检测对于检测多种病原体可能非常有价值。

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