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Genetic and Epigenetic Alterations of TERT Are Associated with Inferior Outcome in Adolescent and Young Adult Patients with Melanoma.TERT 的遗传和表观遗传改变与青少年和年轻成年黑色素瘤患者的不良预后相关。
Sci Rep. 2017 Apr 5;7:45704. doi: 10.1038/srep45704.
2
Detection of Aberrant TERT Promoter Methylation by Combined Bisulfite Restriction Enzyme Analysis for Cancer Diagnosis.联合亚硫酸氢盐限制性内切酶分析法检测TERT启动子异常甲基化用于癌症诊断
J Mol Diagn. 2017 May;19(3):378-386. doi: 10.1016/j.jmoldx.2017.01.003. Epub 2017 Mar 9.
3
Systematic analysis of telomere length and somatic alterations in 31 cancer types.对31种癌症类型的端粒长度和体细胞改变进行系统分析。
Nat Genet. 2017 Mar;49(3):349-357. doi: 10.1038/ng.3781. Epub 2017 Jan 30.
4
Lethal melanoma in children: a clinicopathological study of 12 cases.儿童致死性黑色素瘤：12例临床病理研究
Pathology. 2016 Dec;48(7):705-711. doi: 10.1016/j.pathol.2016.08.008. Epub 2016 Oct 27.
5
The utilization of spitz-related nomenclature in the histological interpretation of cutaneous melanocytic lesions by practicing pathologists: results from the M-Path study.执业病理学家在皮肤黑素细胞性病变组织学诊断中对斯皮茨相关命名法的应用：M-Path研究结果
J Cutan Pathol. 2017 Jan;44(1):5-14. doi: 10.1111/cup.12826. Epub 2016 Oct 28.
6
Proliferative Nodules vs Melanoma Arising in Giant Congenital Melanocytic Nevi During Childhood.儿童时期巨大先天性黑素细胞痣中增生性结节与黑色素瘤的比较。
JAMA Dermatol. 2016 Oct 1;152(10):1147-1151. doi: 10.1001/jamadermatol.2016.2667.
7
NTRK3 kinase fusions in Spitz tumours.Spitz肿瘤中的NTRK3激酶融合
J Pathol. 2016 Nov;240(3):282-290. doi: 10.1002/path.4775.
8
Genomic aberrations in spitzoid melanocytic tumours and their implications for diagnosis, prognosis and therapy.Spitz样黑素细胞肿瘤中的基因组畸变及其对诊断、预后和治疗的意义。
Pathology. 2016 Feb;48(2):113-31. doi: 10.1016/j.pathol.2015.12.007. Epub 2016 Jan 18.
9
The landscape of fusion transcripts in spitzoid melanoma and biologically indeterminate spitzoid tumors by RNA sequencing.通过RNA测序分析Spitzoid黑色素瘤和生物学行为不确定的Spitzoid肿瘤中的融合转录本图谱。
Mod Pathol. 2016 Apr;29(4):359-69. doi: 10.1038/modpathol.2016.37. Epub 2016 Feb 19.
10
Telomerase Expression by Aberrant Methylation of the TERT Promoter in Melanoma Arising in Giant Congenital Nevi.巨大先天性痣相关黑色素瘤中TERT启动子异常甲基化导致的端粒酶表达
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儿童黑色素瘤的病理学与基因组学：一次批判性重新审视及新见解

Pathology and genomics of pediatric melanoma: A critical reexamination and new insights.

作者信息

Bahrami Armita, Barnhill Raymond L

机构信息

Department of Pathology, St. Jude Children's Research Hospital, Memphis, Tennessee.

Department of Oncology, St. Jude Children's Research Hospital, Memphis, Tennessee.

出版信息

Pediatr Blood Cancer. 2018 Feb;65(2). doi: 10.1002/pbc.26792. Epub 2017 Sep 12.

DOI:10.1002/pbc.26792
PMID:28895292
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC6500729/
Abstract

The clinicopathologic features of pediatric melanoma are distinct from those of the adult counterpart. For example, most childhood melanomas exhibit a uniquely favorable biologic behavior, save for those arising in large/giant congenital nevi. Recent studies suggest that the characteristically favorable biologic behavior of childhood melanoma may be related to extreme telomere shortening and dysfunction in the cancer cells. Herein, we review the genomic profiles that have been defined for the different subtypes of pediatric melanoma and particularly emphasize the potential prognostic value of telomerase reverse transcriptase alterations for these tumors.

摘要

儿童黑色素瘤的临床病理特征与成人黑色素瘤不同。例如，大多数儿童黑色素瘤表现出独特的良好生物学行为，但发生于大/巨大先天性痣的黑色素瘤除外。最近的研究表明，儿童黑色素瘤特征性的良好生物学行为可能与癌细胞中极端的端粒缩短和功能障碍有关。在此，我们回顾已确定的不同亚型儿童黑色素瘤的基因组概况，并特别强调端粒酶逆转录酶改变对这些肿瘤的潜在预后价值。

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