Somatic Mutations and Intratumoral Heterogeneity of MYH11 Gene in Gastric and Colorectal Cancers
Somatic Mutations and Intratumoral Heterogeneity of MYH11 Gene in Gastric and Colorectal Cancers
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DOI：
10.1097/pai.0000000000000484
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发表时间：
2018-09-01
影响因子：
1.6
通讯作者：
Lee, Sug Hyung
中科院分区：
文献类型：
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作者：
Jo, Yun Sol;Kim, Min Sung;Lee, Sug Hyung
MYH11作为一种收缩蛋白，通过三磷酸腺苷的水解将化学能转化为机械能。在癌症中，已经报道了致癌融合Cbfb/MYH11和移码突变。MYH11的截短突变体表现出ATPase和运动活性的增加，表明它们在癌细胞的能量平衡和运动中发挥作用。MYH11基因在编码序列中有一个单核苷酸重复序列(C8)，这可能是表现为微卫星不稳定性(MSI)的癌症的突变靶点。我们分析了79例胃癌和124例结直肠癌的C8重复序列，其中113例为高MSI(MSI-H)，90例为微卫星稳定/低MSI。4例(11.8%)癌组织和17例(21.5%)MSI-H癌组织检测到MYH11移码突变(21/113，18.6%)，而微卫星稳定/低MSI癌组织(0/90)均未检测到MYH11移码突变(P
MYH11 functions as a contractile protein, converting chemical energy into mechanical energy through adenosine triphosphate hydrolysis. In cancers, an oncogenic fusion CBFB/MYH11 and frameshift mutations have been reported. Truncating mutants of MYH11 exhibited increased ATPase and motor activity, suggesting their roles in energy balance and movement of cancer cells. MYH11 gene has a mononucleotide repeat (C8) in the coding sequences that could be a mutational target in the cancers exhibiting microsatellite instability (MSI). We analyzed the C8 repeat in 79 gastric cancers (GCs) and 124 colorectal cancers (CRCs) including 113 high MSI (MSI-H) and 90 microsatellite stable/low MSI cases. We detected MYH11 frameshift mutations in 4 (11.8%) GCs and 17 (21.5%) CRCs with MSI-H (21/113, 18.6%), but not in microsatellite stable/low MSI cancers (0/90) (P