Risk assessment for atypical spitzoid melanocytic neoplasms using FISH to identify chromosomal copy number aberrations

Pedram Gerami*, Richard A. Scolyer, Xiaowei Xu, David E. Elder, Ronnie M. Abraham, Douglas Fullen, Victor G. Prieto, Philip E. Leboit, Raymond L. Barnhill, Chelsea Cooper, Pedram Yazdan, Joan Guitart, Ping Liu, Ekaterina Pestova, Klaus Busam

*Corresponding author for this work

Research output: Contribution to journalArticlepeer-review

137 Scopus citations


Risk assessment for atypical Spitz tumors remains an enigma for physicians. Many prognosticators including sentinel lymph node biopsy fail to show the same prognostic significance in these tumors as seen in conventional melanoma. We conducted a case-controlled collaborative study involving multiple major melanoma treatment centers in the United States and Australia. Sixty-four atypical Spitz tumors with 5 years of uneventful follow-up and 11 atypical Spitz tumors resulting in advanced locoregional disease, distant metastasis, or death were evaluated by fluorescence in situ hybridization using 2 probe sets targeting 6 chromosomal loci. Predetermined criteria were utilized to detect the presence or absence of copy number aberrations for each locus. Logistic regression analysis, Fisher exact test, and multivariate analysis were performed to determine chromosomal copy number aberrations with statistically significant association with aggressive clinical behavior. Gains in 6p25 or 11q13 and homozygous deletions in 9p21 had statistically significant association with aggressive clinical behavior with P-values of 0.02, 0.02, and <0.0001, respectively. In multivariate analysis, homozygous 9p21 deletion was highly associated with clinically aggressive behavior (P<0.0001) and death due to disease (P=0.003). Fluorescence in situ hybridization detecting a limited number of chromosomal copy number aberrations can provide clinically useful and statistically significant risk assessment for atypical Spitz tumors. Cases with homozygous 9p21 deletions have the greatest risk. Cases with 6p25 or 11q13 gains also have higher risk for aggressive clinical behavior than FISH-negative atypical Spitz tumors or cases with 6q23 deletions.

Original languageEnglish (US)
Pages (from-to)676-684
Number of pages9
JournalAmerican Journal of Surgical Pathology
Issue number5
StatePublished - May 2013


  • Spitz nevus
  • Spitz tumor
  • atypical Spitz tumor
  • fluorescence in situ hybridization
  • melanoma
  • spitzoid melanoma

ASJC Scopus subject areas

  • Anatomy
  • Surgery
  • Pathology and Forensic Medicine


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