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A pediatric case of pigmented epithelioid melanocytoma with chromosomal copy number alterations in 15q and 17q and a novel NTRK3-SCAPER gene fusion.

15q和 17q染色体拷贝数改变的色素性上皮样黑色素细胞瘤和新型NTRK3-SCAPER基因融合的儿科病例。

  • 影响因子:1.26
  • DOI:10.1111/cup.13566
  • 作者列表:"Friedman BJ","Hernandez S","Fidai C","Jiang A","Shwayder TA","Carskadon S","Andea AA","Harms PW","Chitale D","Palanisamy N
  • 发表时间:2020-01-01
Abstract

:Pigmented epithelioid melanocytoma (PEM) represents a group of rare, heavily pigmented melanocytic tumors encompassing lesions previously designated as "animal-type melanomas" and "epithelioid blue nevi." Despite the association of multiple such tumors in the setting of Carney complex, most cases of PEM occur spontaneously as solitary neoplasms in otherwise healthy patients. PEM may arise in both children and adults, and has a known propensity to spread to the regional lymph nodes. Despite this latter finding, recurrence at the biopsy site or spread beyond the lymph node basin is exceptionally uncommon. Although the molecular basis for PEM continues to be characterized, findings to date suggest that this category of melanocytic neoplasia has genetic alterations distinct from those seen in common nevi, dysplastic nevi, Spitz nevi, and melanoma. Herein, we present an in-depth clinical, histopathologic, and molecular analysis of a case of PEM occurring on the scalp of a young African American girl found to have a novel NTRK3-SCAPER gene fusion.

摘要

: 色素性上皮样黑色素细胞瘤 (PEM) 代表一组罕见的、重度色素性黑色素细胞肿瘤,包括以前称为 “动物型黑色素瘤” 和 “上皮样蓝痣” 的病变。尽管在Carney复合体的环境中存在多个此类肿瘤的关联,但大多数PEM病例在其他健康患者中作为孤立性肿瘤自发发生。PEM可能出现在儿童和成人中,并且具有已知的扩散到区域淋巴结的倾向。尽管有后一种发现,但活检部位复发或扩散到淋巴结盆地以外是异常罕见的。尽管PEM的分子基础仍在继续表征,但迄今为止的研究结果表明,这一类黑色素细胞肿瘤具有不同于普通痣、发育不良痣、Spitz痣的遗传改变。和黑色素瘤。在此,我们对一例发生在一名年轻非裔美国女孩头皮上的PEM进行了深入的临床、组织病理学和分子分析,发现其具有新的NTRK3-SCAPER基因融合。

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皮肤肿瘤方向

皮肤肿瘤是发生在皮肤的细胞增生性疾病,是一种常见病。发生于皮内或皮下组织的新生物,种类很多,临床上分良性肿瘤和恶性肿瘤。恶性肿瘤可以不断增殖,引起转移,威胁生命,称为皮肤癌。

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