首页> 外文期刊>Modern Pathology >Genomic copy number analysis of a spectrum of blue nevi identifies recurrent aberrations of entire chromosomal arms in melanoma ex blue nevus
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Genomic copy number analysis of a spectrum of blue nevi identifies recurrent aberrations of entire chromosomal arms in melanoma ex blue nevus

机译:蓝痣光谱的基因组拷贝数分析确定了蓝痣前黑色素瘤中整个染色体臂的反复畸变

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Blue nevi may display significant atypia or undergo malignant transformation. Morphologic diagnosis of this spectrum of lesions is notoriously difficult, and molecular tools are increasingly used to improve diagnostic accuracy. We studied copy number aberrations in a cohort of cellular blue nevi, atypical cellular blue nevi, and melanomas ex blue nevi using Affymetrix鈥檚 OncoScan platform. Cases with sufficient DNA were analyzed for GNAQ, GNA11, and HRAS mutations. Copy number aberrations were detected in 0 of 5 (0%) cellular blue nevi, 3 of 12 (25%) atypical cellular blue nevi, and 6 of 9 (67%) melanomas ex blue nevi. None of the atypical cellular blue nevi displayed more than one aberration, whereas complex aberrations involving four or more regions were seen exclusively in melanomas ex blue nevi. Gains and losses of entire chromosomal arms were identified in four of five melanomas ex blue nevi with copy number aberrations. In particular, gains of 1q, 4p, 6p, and 8q, and losses of 1p and 4q were each found in at least two melanomas. Whole chromosome aberrations were also common, and represented the sole finding in one atypical cellular blue nevus. When seen in melanomas, however, whole chromosome aberrations were invariably accompanied by partial aberrations of other chromosomes. Three melanomas ex blue nevi harbored aberrations, which were absent or negligible in their precursor components, suggesting progression in tumor biology. Gene mutations involving GNAQ and GNA11 were each detected in two of eight melanomas ex blue nevi. In conclusion, copy number aberrations are more common and often complex in melanomas ex blue nevi compared with cellular and atypical cellular blue nevi. Identification of recurrent gains and losses of entire chromosomal arms in melanomas ex blue nevi suggests that development of new probes targeting these regions may improve detection and risk stratification of these lesions.
机译:蓝色痣可能显示出明显的异型性或经历了恶性转化。众所周知,很难对这种病变范围进行形态学诊断,并且越来越多地使用分子工具来提高诊断准确性。我们使用Affymetrix的OncoScan平台研究了一组细胞蓝色痣,非典型细胞蓝色痣和黑色素瘤(蓝色痣)中的拷贝数畸变。对具有足够DNA的病例进行GNAQ,GNA11和HRAS突变分析。在5个(0%)细胞蓝色痣中的0个,12个(25%)非典型细胞蓝色痣中的3个和9个(67%)黑色蓝色瘤中的6个中检测到了拷贝数畸变。非典型细胞蓝色痣没有一个显示出超过一个像差,而仅在蓝色痣中的黑色素瘤中发现了涉及四个或更多区域的复杂像差。在来自蓝色痣的五个黑色素瘤中,有四个黑色素瘤的拷贝数畸变被鉴定出整个染色体臂的得失。特别是,在至少两个黑色素瘤中分别发现了1q,4p,6p和8q的增益,以及1p和4q的损耗。整个染色体畸变也很普遍,代表了在一个非典型细胞蓝色痣中的唯一发现。然而,当在黑色素瘤中看到时,整个染色体畸变总是伴随着其他染色体的局部畸变。蓝色痣上的三个黑色素瘤均存在畸变,其前体成分不存在或可以忽略不计,表明肿瘤生物学进展。涉及GNAQ和GNA11的基因突变均在蓝色痣的八个黑素瘤中的两个中检测到。总之,与细胞和非典型细胞蓝色痣相比,在蓝色痣以外的黑色素瘤中,拷贝数畸变更为常见,并且通常很复杂。蓝痣黑色素瘤中整个染色体臂的反复得失的鉴定表明,针对这些区域的新探针的开发可以改善这些病变的检测和风险分层。

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