PMID- 21263245 OWN - NLM STAT- MEDLINE DCOM- 20110301 LR - 20110125 IS - 1532-0979 (Electronic) IS - 0147-5185 (Linking) VI - 35 IP - 2 DP - 2011 Feb TI - Copy number variations and clinical outcome in atypical spitz tumors. PG - 243-52 LID - 10.1097/PAS.0b013e31820393ee [doi] AB - Atypical Spitz tumors (ASTs) are rare spitzoid neoplasms of uncertain biological behavior. Our study was designed to characterize genetic abnormalities that may help to differentiate ASTs from melanoma or Spitz nevi. We examined copy number variation in formalin-fixed, paraffin-embedded samples using an Agilent 44k array comparative genomic hybridization platform. Sixteen patients with AST (8 with positive sentinel lymph node biopsy, 1 with distant metastasis), 8 patients with Spitz nevi, and 3 patients with melanoma (2 spitzoid, 1 superficial spreading) were evaluated. Chromosomal aberrations were found in 7 of 16 ASTs, 1 with fatal outcome, 2 spitzoid melanomas, and 1 conventional melanoma. We found no difference in chromosomal instability between AST patients with positive and negative sentinel lymph node biopsies. Our patient with widely metastatic AST lacked the most frequent aberrations in melanoma involving chromosomes 6 and 11q that are loci targeted by fluorescence in situ hybridization (FISH) probes developed to distinguish malignant melanoma from benign melanocytic lesions. The vast majority of chromosomal abnormalities observed in ASTs are not commonly found in melanomas, suggesting that AST may be a distinct clinical entity and raising additional questions regarding their malignant potential, prognosis, and clinical management. The current FISH probes failed to detect 1 spitzoid melanoma, 1 fatal metastatic AST case, and the other chromosomally aberrant ASTs in our series, but detected 1 spitzoid melanoma and 1 conventional melanoma. Thus, a comprehensive, genome-wide approach to chromosomal abnormalities offered greater sensitivity and specificity than current FISH probes in identifying spitzoid lesions of uncertain malignant potential in this series. FAU - Raskin, Leon AU - Raskin L AD - Department of Internal Medicine, University of Michigan, Ann Arbor, USA. FAU - Ludgate, Mathew AU - Ludgate M FAU - Iyer, Ramaswamy K AU - Iyer RK FAU - Ackley, Todd E AU - Ackley TE FAU - Bradford, Carol R AU - Bradford CR FAU - Johnson, Timothy M AU - Johnson TM FAU - Fullen, Douglas R AU - Fullen DR LA - eng PT - Journal Article PT - Research Support, Non-U.S. Gov't PL - United States TA - Am J Surg Pathol JT - The American journal of surgical pathology JID - 7707904 RN - 0 (DNA, Neoplasm) SB - IM MH - Adolescent MH - Adult MH - Aged MH - Child MH - Child, Preschool MH - *Chromosome Aberrations MH - Comparative Genomic Hybridization/methods MH - DNA, Neoplasm/analysis MH - Female MH - *Gene Dosage MH - Humans MH - In Situ Hybridization, Fluorescence MH - Male MH - Melanoma/genetics/secondary MH - Middle Aged MH - Nevus, Epithelioid and Spindle Cell/*genetics/pathology MH - Skin Neoplasms/*genetics/pathology MH - Young Adult EDAT- 2011/01/26 06:00 MHDA- 2011/03/02 06:00 CRDT- 2011/01/26 06:00 PHST- 2011/01/26 06:00 [entrez] PHST- 2011/01/26 06:00 [pubmed] PHST- 2011/03/02 06:00 [medline] AID - 00000478-201102000-00009 [pii] AID - 10.1097/PAS.0b013e31820393ee [doi] PST - ppublish SO - Am J Surg Pathol. 2011 Feb;35(2):243-52. doi: 10.1097/PAS.0b013e31820393ee.