Loss of heterozygosity in a case of glomuvenous malformations.
Loss of heterozygosity in a case of glomuvenous malformations.
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球静脉畸形病例中杂合性的丧失。
DOI：
10.1111/1346-8138.12849
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发表时间：
2015
期刊：
影响因子：
3.1
通讯作者：
Nakama T
中科院分区：
文献类型：
--
作者：
Ohata C;Matsuda M;Hamada T;Shintani T;Muto I;Nagata H;Furumura M;Nakama T
图 1.(a) 左前臂聚集蓝色结节。(b) 活检标本显示不规则扩张的血管通道（苏木精-伊红 [HE]，原始放大倍数 940）。(c) 大血管通道被几层血管球细胞包围（HE，9200）。(d) 对外周血样本中 GLMN 基因的外显子 13 进行突变分析，确定了C.杂合突变1150_1151德尔AG。使用皮肤病变DNA进行的序列分析仅显示突变等位基因。(e)微卫星分析数据。将血液样本中两个等位基因的峰高比与肿瘤样本中的峰高比进行比较。如果每个标志物中血液样本比率与肿瘤样本比率的比率小于0.67或大于1.35，则确定杂合性丢失(LOH)。根据该标准，肿瘤样本中的D1S2766、D1S435、D1S2868和D1S495中的LOH是明显的。
Figure 1.(a) Aggregations of bluish nodules on the left forearm.(b) Biopsy specimen revealed irregular ectatic vascular channels (hematoxylin–eosin [HE], original magnification 940).(c) Large vascular channels are surrounded by a few layers of glomus cells (HE, 9200).(d) Mutation analysis of exon 13 of the GLMN gene from a peripheral blood sample identified a heterozygous mutation of c. 1150_1151delAG. The sequence analysis using skin lesion DNA showed only the mutant allele.(e) Microsatellite analyses data. The ratios of peak height of two alleles in blood sample were compared to those in tumor samples. Loss of heterozygosity (LOH) is determined if the ratio of blood sample ratio to tumor sample ratio is less than 0.67 or more than 1.35 in each marker. According to this criterion, LOH in D1S2766, D1S435, D1S2868 and D1S495 in tumor samples were evident.