A genome-wide analysis of colorectal cancer in a child with Noonan syndrome.
A genome-wide analysis of colorectal cancer in a child with Noonan syndrome.
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对患有努南综合征的儿童结直肠癌进行全基因组分析。
DOI：
10.1002/pbc.27362
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发表时间：
2018
影响因子：
3.2
通讯作者：
Geiger,JamesD
中科院分区：
文献类型：
--
作者：
Prasad,RahulM;Mody,RajenJ;Myers,George;Mullins,Melisa;Naji,Zaher;Geiger,JamesD
努南综合征（Noonan syndrome， NS）是由Ras信号通路的种系突变引起的一种发育综合征。没有证据表明NS与儿童结直肠癌（CRC）之间存在关联。我们报告一例小儿NS患者的结直肠癌。患者接受了全基因组测序。种系SOS1突变C . 1310t >C （p. Ile437Thr）证实NS诊断。未发现已知的遗传性癌症综合征。肿瘤分析发现两个突变：TP53错义突变c.481G> a （p. Ala161Tyr）和NCOR1无义突变c.6052C>T （p. Arg2018*）。本报告强调了Ras信号的复杂性以及发育综合征与癌症之间的相互作用。
Noonan syndrome (NS) is a developmental syndrome caused by germline mutations in the Ras signaling pathway. No association has been shown between NS and pediatric colorectal cancer (CRC). We report the case of CRC in a pediatric patient with NS. The patient underwent whole genome sequencing. A germline SOS1 mutation c.1310T>C (p. Ile437Thr) confirmed NS diagnosis. No known hereditary cancer syndromes were identified. Tumor analysis revealed two mutations: a TP53 missense mutation c.481G>A (p. Ala161Tyr) and NCOR1 nonsense mutation c.6052C>T (p. Arg2018*). This report highlights the complexity of Ras signaling and the interplay between developmental syndromes and cancer.