title: High-resolution array-based comparative genomic hybridization for distinguishing paraffin-embedded Spitz nevi and melanomas.
abstract: Distinguishing between Spitz nevus and melanoma presents a challenging task for clinicians and pathologists. Most of these lesions are submitted entirely in formalin for histologic analysis by conventional hematoxylin and eosin-stained sections, and fresh-frozen material for ancillary studies is rarely collected. Molecular techniques, such as comparative genomic hybridization (CGH), can detect chromosomal alterations in tumor DNA that differ between these 2 lesions. This study investigated the ability of high-resolution array-based CGH to serve as a diagnostic test in distinguishing Spitz nevus and melanoma using DNA isolated from formalin-fixed and paraffin-embedded samples. Two of 3 Spitz nevi exhibited no significant chromosomal alterations, while the third showed gain of the short arm of chromosome 11p. The latter finding has previously been described as characteristic of a subset of Spitz nevi. The 2 melanomas showed multiple copy number alterations characteristic of melanoma such as 1q amplification and chromosome 9 deletion. This study has shown the utility of array-based CGH as a potential molecular test in distinguishing Spitz nevus from melanoma. The assay is capable of using archival paraffin-embedded, formalin-fixed material; is technically easier to perform as compared with conventional CGH; is more sensitive than conventional CGH in being able to detect focal alterations; and can detect copy number alterations even with relatively small amounts of lesional tissue as is typical of many skin tumors.
authors.affiliation: Department of Pathology, Stanford University School of Medicine, Stanford, CA 94305, USA.
authors.forename: Jeff D
authors.initials: JD
authors.lastname: Harvell
authors.forename: Sabine
authors.initials: S
authors.lastname: Kohler
authors.forename: Shirley
authors.initials: S
authors.lastname: Zhu
authors.forename: Tina
authors.initials: T
authors.lastname: Hernandez-Boussard
authors.forename: Jonathan R
authors.initials: JR
authors.lastname: Pollack
authors.forename: Matt
authors.initials: M
authors.lastname: van de Rijn
mesh_terms: D000328:Adult; D000368:Aged; D002648:Child; D003937:Diagnosis, Differential; D005260:Female; D006801:Humans; D008297:Male; D008545:Melanoma / Q000175:diagnosis* / Q000473:pathology; D018332:Nevus, Epithelioid and Spindle Cell / Q000175:diagnosis* / Q000473:pathology; D009693:Nucleic Acid Hybridization / Q000379:methods*; D020411:Oligonucleotide Array Sequence Analysis; D016612:Paraffin Embedding; D012189:Retrospective Studies; D012878:Skin Neoplasms / Q000175:diagnosis* / Q000473:pathology