Presence of cytogenetic abnormalities in Spitz naevi: a diagnostic challenge for fluorescence in-situ hybridization analysis

• Published in: Histopathology 2012-01, Vol.60 (2), p.336-346
• Main Authors: Martin, Vittoria, Banfi, Sara, Bordoni, Andrea, Leoni-Parvex, Sandra, Mazzucchelli, Luca
• Format: Article
• Language: English
• Subjects: Adolescent; Adult; Benign; Biological and medical sciences; Biopsy; Child; Child, Preschool; Chromosome Aberrations; Chromosomes, Human, X; copy number; Cyclin D1 - genetics; Dermatology; Diagnosis, Differential; DNA-Binding Proteins - genetics; Female; Fluorescence; Fluorescence in situ hybridization; Follow-Up Studies; Gene Dosage - genetics; Humans; Hybridization analysis; In Situ Hybridization, Fluorescence; Investigative techniques, diagnostic techniques (general aspects); Male; Medical sciences; Melanoma; Melanoma - diagnosis; Melanoma - genetics; Melanoma - pathology; Middle Aged; Nevus, Epithelioid and Spindle Cell - diagnosis; Nevus, Epithelioid and Spindle Cell - genetics; Nevus, Epithelioid and Spindle Cell - pathology; Oncogene Proteins v-myb - genetics; Pathology. Cytology. Biochemistry. Spectrometry. Miscellaneous investigative techniques; polysomy; Probes; Retrospective Studies; Skin - pathology; Skin Neoplasms - diagnosis; Skin Neoplasms - genetics; Skin Neoplasms - pathology; Spitz naevus; Transcription Factors - genetics; Tumors of the skin and soft tissue. Premalignant lesions; X chromosome; Young Adult
• ISSN: 0309-0167; 1365-2559
• DOI: 10.1111/j.1365-2559.2011.04087.x

Martin V, Banfi S, Bordoni A, Leoni‐Parvex S & Mazzucchelli L 
(2012) Histopathology 60, 336–346 
Presence of cytogenetic abnormalities in Spitz naevi: a diagnostic challenge for fluorescence in‐situ hybridization analysis Aims:  Spitz naevi are difficult to diagnose, because of significant overlap with melanomas. It has been recently demonstrated that the LSI RREB1(6p25)/LSI MYB(6q23)/LSI CCND1(11q13)/CEP6 fluorescence in‐situ hybridization (FISH) assay is a reliable tool with which to distinguish benign naevi and melanomas. Little is known about its diagnostic usefulness in Spitz naevi. Methods and results:  We investigated 51 patients with Spitz naevi and long‐term median follow‐up (8.18 years) with the multicolour FISH probe. Control groups included 11 benign naevi and 14 melanomas. Spitz naevi from 32 (63%) patients did not show cytogenetic abnormalities (FISH−). In contrast, Spitz naevi from 19 (37%) patients showed changes in the investigated loci (FISH+). Spitz naevi with the FISH+ profile showed chromosome X polysomy in 14/18 (78%) patients. All Spitz naevi with the FISH− profile were disomic. All melanomas displayed a FISH+ profile, and 4/11 (36%) showed chromosome X polysomy. No differences in clinicopathological features were detected between Spitz naevi with and without genetic abnormalities. Conclusions:  The presence of gene copy number changes in Spitz naevi as detected by FISH is higher than expected, and Spitz naevi at the genetic level represent a heterogeneous group. The findings of similar cytogenetic alterations in Spitz naevi and melanomas suggest that there should be cautious interpretation of FISH analysis in this setting.