Spitzoid tumors in children and adults

Abstract

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.

Pediatric melanoma: incidence, treatment, and prognosis

“…However, unlike patients with melanoma, nodal disease does not confer the same high mortality risk and there is rarely further disease progression. 32 – 34 Several genetic markers have been identified as potential prognostic indicators. Among atypical Spitz tumors, gains in 6p25 ( RREB1 ), 11q13 ( CCND1 ), and homozygous deletions of 9p21 ( CDKN2A ) are associated with a higher risk of aggressive clinical behavior.…”

Pediatric melanoma in the Hispanic population: An analysis of institutional and national data

“…This raised questions of potential misclassification of benign Spitz nevi or atypical Spitzoid tumors (ASTs), which frequently have good prognoses 15 and can have nodal metastases in up to 39% of cases without similar progression or mortality risk of true melanomas. 16 Slide review was available for 8 of 9 institutional Hispanic Spitzoid melanoma cases and was performed by an independent dermatopathologist who was not involved in any of the earlier decision-making (Table S4). The original diagnosis was upheld in all 8 of the reviewed cases, although this was limited by lack of molecular studies and by small sample size, which likely contributed to the overrepresentation of Spitzoid melanoma in our institutional Hispanic population compared with SEER data.…”

“…Although our institutional Hispanic subgroup exhibited higher Breslow depths, they had lower SLNB positivity and higher 5‐year survival. This raised questions of potential misclassification of benign Spitz nevi or atypical Spitzoid tumors (ASTs), which frequently have good prognoses 15 and can have nodal metastases in up to 39% of cases without similar progression or mortality risk of true melanomas 16 . Slide review was available for 8 of 9 institutional Hispanic Spitzoid melanoma cases and was performed by an independent dermatopathologist who was not involved in any of the earlier decision‐making (Table ).…”