Dika Emi, Fanti Pier Alessandro, Fiorentino Michelangelo, Capizzi Elisa, Neri Iria, Piraccini Bianca Maria, Ravaioli Giulia Maria, Misciali Cosimo, Passarini Beatrice, Patrizi Annalisa
aDepartment of Experimental and Diagnostic and Specialty Medicine bLaboratory of Oncologic and Transplantation Molecular Pathology, Saint Orsola-Malpighi Hospital, University of Bologna, Bologna, Italy.
Melanoma Res. 2015 Aug;25(4):295-301. doi: 10.1097/CMR.0000000000000160.
Spitzoid neoplasms may represent a difficult diagnosis in the practice of dermatopathology. We evaluated the concordance of the fluorescence in-situ hybridization (FISH) assay, histopathology, and dermoscopy in a group of adults and in a group of children with spitzoid neoplasms. The FISH assay, designed to detect the copy number of the RREB1 (6p25), MYB (6q23), and CCND1 (11q13) genes and of centromere 6 (Cep 6), was performed in a group of children and in a group of adults with a histopathologic diagnosis of spitzoid neoplasms. FISH data were compared with dermoscopy and histopathology. Fifteen spitzoid neoplasms were collected from 13 patients (five children and eight adults): nine lesions were histologically diagnosed as typical Spitz nevi; three lesions were melanomas and three were atypical Spitz nevi. The conventional FISH criteria were concordant with the clinical and histopathologic diagnosis of Spitz nevi in four adults and in three children. FISH criteria of the other neoplasms showed a concordance with the histopathologic diagnosis in three cases. Discordant results were obtained in five cases (two children, three adults). The FISH melanoma assay proved more reliable in spitzoid lesions found in adults than in children. This assay should be interpreted carefully in pediatric patients with Spitz nevi in the context of histological features as melanomas in the pediatric population may show distinct chromosomal aberrations.
在皮肤病理学实践中，Spitz样肿瘤可能是一个难以诊断的疾病。我们评估了荧光原位杂交（FISH）检测、组织病理学和皮肤镜检查在一组患有Spitz样肿瘤的成人和儿童中的一致性。FISH检测旨在检测RREB1（6p25）、MYB（6q23）和CCND1（11q13）基因以及6号染色体着丝粒（Cep 6）的拷贝数，对一组组织病理学诊断为Spitz样肿瘤的儿童和成人进行了检测。将FISH数据与皮肤镜检查和组织病理学结果进行了比较。从13例患者（5名儿童和8名成人）中收集了15个Spitz样肿瘤：9个病变在组织学上被诊断为典型的Spitz痣；3个病变为黑色素瘤，3个为非典型Spitz痣。传统的FISH标准在4名成人和3名儿童中与Spitz痣的临床和组织病理学诊断一致。其他肿瘤的FISH标准在3例中与组织病理学诊断一致。5例（2名儿童，3名成人）出现了不一致的结果。FISH黑色素瘤检测在成人的Spitz样病变中比在儿童中更可靠。在患有Spitz痣的儿科患者中，应结合组织学特征谨慎解读该检测结果，因为儿科人群中的黑色素瘤可能表现出不同的染色体畸变。
