印度尼西亚原发性皮肤结节性黑色素瘤中BRAF V600突变分析：一项使用高分辨率焦磷酸测序法的分析
BRAF V600 mutation profiling in primary skin nodular melanoma in Indonesia: an analysis using high resolution pyrosequencing.
作者信息
Rinonce Hanggoro Tri, Aji Rovi Panji Mustiko, Hayati Ni'mah, Pudjohartono Maria Fransiska, Kameswari Bidari, Anwar Sumadi Lukman
机构信息
Department of Anatomical Pathology, Faculty of Medicine, Public Health, and Nursing, Universitas Gadjah Mada/Dr. Sardjito Hospital, Sleman, Yogyakarta, 55281, Indonesia.
Department of Anatomical Pathology, dr. Soeradji Tirtonegoro Hospital, Klaten, Central Java, 57424, Indonesia.
出版信息
BMC Res Notes. 2020 Mar 18;13(1):164. doi: 10.1186/s13104-020-05000-w.
OBJECTIVE
We aimed to investigate the prevalence and type of BRAF V600 mutations and the associations with clinicopathological variables in primary skin nodular melanoma cases in Yogyakarta and Central Java, Indonesia using pyrosequencing.
RESULTS
BRAF V600 mutations of the V600E type were found in 21 (53.85%) specimens. The variant allele frequencies (VAFs) ranged from 5.07 to 94.70%, averaging 29.05%. However, most cases had low VAFs, with 13 (61.9%) specimens below 20% and 4 (19.05%) below 10%.
目的
我们旨在利用焦磷酸测序技术调查印度尼西亚日惹和中爪哇原发性皮肤结节性黑色素瘤病例中BRAF V600突变的患病率和类型，以及与临床病理变量的关联。
结果
在21份（53.85%）标本中发现了V600E型的BRAF V600突变。变异等位基因频率（VAFs）范围为5.07%至94.70%，平均为29.05%。然而，大多数病例的VAFs较低，13份（61.9%）标本低于20%，4份（19.05%）低于10%。
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