Genome profiling of melanocytic tumors using multiplex ligation-dependent probe amplification (MLPA): Its usefulness as an adjunctive diagnostic tool for melanocytic tumors

摘要: Summary Background: The histopathology of melanocytic tumors sometimes presents diagnostic problems. Applicable parameters other than routine pathology are needed. Objective: We assessed the feasibility multiplex ligation-dependent probe amplification (MLPA), a novel PCR-based genome profiling method, in classification tumors. Method: extracted DNA from paraffin-embedded tissue sections 24 primary melanomas, 14 Spitz nevi and 17 common nevi. analyzed copy number gains or losses total 76 genes spanning almost all chromosome arms using commercially available MLPA kits. Results: Although four three did not yield sufficient for reliable analysis due to small tumor size, was feasible applicable remaining 88% samples. found multiple genetic aberrations melanomas. each ranged 1 32 (average, 12.04). All but two melanomas showed at more loci. Seventeen (70.8%) loss either CDKN2A CDKN2B gene on 9p21. 7 (50%) had changes one loci 1.04). receiver operator characteristic curve that threshold value corresponding 98% specificity melanoma 2.42 sensitivity this 92.5%. Conclusions: could be used as an adjunctive tool