title: Proliferative activity, chromosomal aberrations, and tumor-specific mutations in the differential diagnosis between blue nevi and melanoma.
abstract: Blue nevi are a clinically and pathologically heterogeneous group of benign pigmented dermal melanocytic tumors that may exhibit histologic overlap with malignant melanoma. This study evaluates the role of immunohistochemical and molecular analyses in the classification and differential diagnosis between blue nevi and melanoma. Twenty-three dermal melanocytic tumors, initially diagnosed as benign or ambiguous, were subjected to immunohistochemical staining for phosphohistone H3 and MIB-1 to evaluate mitotic activity, comparative genomic hybridization to detect chromosomal aberrations, and GNAQ, GNA11, BRAF, NRAS, and KRAS sequencing. Of 19 patients with follow-up information (median, 1.6 years), 3 developed recurrent or metastatic disease. Nevertheless, 11 of the 19 patients with follow-up had <2 years of follow-up. Nine of 23 patients showed chromosomal aberrations, including all 3 patients with tumor recurrence or progression. There was no significant correlation between mutation status (P = 0.6) or mitotic rate (P = 0.3) and outcome. In conclusion, three of nine patients with chromosomal aberrations developed tumor recurrence or progression. Patients with histologically ambiguous dermal melanocytic proliferations that exhibit copy number aberrations should undergo careful clinical follow-up.
authors.affiliation: Center for Dermatooncology, Department of Dermatology, University Hospital Tuebingen, Tuebingen, Germany. laura.held@med.uni-tuebingen.de
authors.forename: Laura
authors.initials: L
authors.lastname: Held
authors.forename: Thomas K
authors.initials: TK
authors.lastname: Eigentler
authors.forename: Gisela
authors.initials: G
authors.lastname: Metzler
authors.forename: Ulrike
authors.initials: U
authors.lastname: Leiter
authors.forename: Jane L
authors.initials: JL
authors.lastname: Messina
authors.forename: L Frank
authors.initials: LF
authors.lastname: Glass
authors.forename: Claus
authors.initials: C
authors.lastname: Garbe
authors.forename: Jürgen
authors.initials: J
authors.lastname: Bauer
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D049109:Cell Proliferation; D002648:Child; D002869:Chromosome Aberrations; D055028:Comparative Genomic Hybridization; D004252:DNA Mutational Analysis; D003937:Diagnosis, Differential; D018450:Disease Progression; D005260:Female; D006801:Humans; D008297:Male; D008545:Melanoma / Q000175:diagnosis* / Q000235:genetics* / Q000473:pathology; D008875:Middle Aged; D009154:Mutation; D009364:Neoplasm Recurrence, Local / Q000473:pathology; D018329:Nevus, Blue / Q000175:diagnosis* / Q000235:genetics* / Q000473:pathology; D012878:Skin Neoplasms / Q000175:diagnosis; D055815:Young Adult