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Fluorescence in-situ hybridization and dermoscopy in the assessment of controversial melanocytic tumors

Ponti, Giovannic; Ruini, Cristela; Massi, Danielad; Pellacani, Giovannia; Tomasi, Aldoc; Paglierani, Milenad; Loschi, Pietrob; Seidenari, Stefaniaa

doi: 10.1097/CMR.0000000000000020
ORIGINAL ARTICLES: Clinical research

Although the ‘gold standard’ for melanoma diagnosis remains histopathological analysis, presently dermoscopists play a significant role in the diagnostic process. However, even a combined approach may not allow a clear-cut judgment on equivocal melanocytic lesions. Fluorescence in-situ hybridization (FISH) can offer assistance in the evaluation of chromosome abnormalities associated with malignancies, and its role is emerging in melanoma diagnosis. The aim of this study was to evaluate the diagnostic role of the FISH in the assessment of controversial lesions, defined as those lesions showing discrepancies between dermatoscopic and histological evaluations. Twenty clinically and histologically ambiguous melanocytic lesions were selected. After the first histopathologic diagnosis, a second pathologist examined the specimens in a blinded review for a second opinion and to identify the most suitable areas to hybridize using probes specific to RREB1, MYB, and CCND1 genes and the centromere of chromosome 6. The first histopathological evaluation led to the diagnosis of melanoma in seven cases, whereas the second identified eight cases of malignant melanoma and was in agreement with the first in 65% of cases and with dermoscopy in 40% of cases. Cytogenetic abnormalities detected by FISH are markers of malignancy that can be useful in the characterization of difficult-to-diagnose melanocytic tumors, when the dermatologist and the pathologist have a different opinions.

Departments of aHead and Neck Surgery

bPlastic and Reconstructive Surgery

cClinical and Diagnostic Medicine and Public Health, Division of Clinical Pathology, University Hospital of Modena and Reggio Emilia, University of Modena and Reggio Emilia, Modena

dDepartment of Critical Care Medicine and Surgery, Division of Pathological Anatomy, Florence, Italy

Correspondence to Giovanni Ponti, MD, PhD, Department of Clinical and Diagnostic Medicine and Public Health, University Hospital of Modena and Reggio Emilia, University of Modena and Reggio Emilia, via del Pozzo, 71, 41100 Modena, Italy Tel: +39 594 222 929; fax: +39 594 224 271; e-mail:

Received April 29, 2013

Accepted August 20, 2013

© 2013 Wolters Kluwer Health | Lippincott Williams & Wilkins