DNA copy number changes correlate with clinical behavior in melanocytic neoplasms: proposal of an algorithmic approach

DNA copy number changes correlate with clinical behavior in melanocytic neoplasms: proposal of an algorithmic approach
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DOI:
10.1038/s41379-020-0499-y
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发表时间:
2020-02-17
期刊:
影响因子:
7.5
通讯作者:
Andea, Aleodor A.
Andea, Aleodor A.
中科院分区:
医学1区
文献类型:
--
作者:
Alomari, Ahmed K.;Miedema, Jayson R.;Andea, Aleodor A.

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分子方法越来越多地用于黑素细胞肿瘤的治疗。为此,我们试图将基于分子倒置探针的单核苷酸多态性(SNP)阵列平台的数据与临床数据关联起来。获得了 92 名患者的 95 例黑色素细胞肿瘤(6 例普通痣、15 例非典型痣、34 例不明性肿瘤和 40 例黑色素瘤)的拷贝数变异 (CNV) 数据。痣的显着 CNV 平均数量为 0,非典型痣(范围 0-3)为 0.6,模糊性肿瘤(范围 0-17)为 2.8,黑色素瘤(范围 0-69)为 18.1。 95 个病变中的 57 个(92 名患者中的 56 名)可获得临床随访数据。发生不良事件患者的肿瘤平均 CNV 数量为 24.5 个(范围 6-69),而没有相关不良事件的肿瘤的 CNV 平均数量为 7.9 个(范围 0-35)(p
Increasingly, molecular methods are being utilized in the workup of melanocytic neoplasms. To this end, we sought to correlate data from a single nucleotide polymorphism (SNP) array platform based on molecular inversion probes with clinical data. Copy number variation (CNV) data were obtained on 95 melanocytic tumors (6 ordinary nevi, 15 atypical nevi, 34 ambiguous neoplasms, and 40 melanomas) from 92 patients. The average number of significant CNVs was 0 for nevi, 0.6 for atypical nevi (range 0-3), 2.8 for ambiguous neoplasms (range 0-17), and 18.1 for melanomas (range 0-69). Clinical follow-up data were available in 57 of 95 lesions (56 of 92 patients). Tumors from patients with adverse events demonstrated an average number of CNVs of 24.5 (range 6-69) as compared with 7.9 (range 0-35) among tumors without an associated adverse event (p