The American Journal of dermatopathology · 2014
De novo congenital melanoma: analysis of 2 cases with array comparative genomic hybridization.
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Su Albert, Low Lawrence, Li Xinmin, Zhou Shengmei, Mascarenhas Leo, Barnhill Raymond L
Аннотация
Congenital melanoma is extraordinarily rare, and 3 types have been described: transplacental metastases from the mother, de novo congenital melanoma, and melanoma occurring in association with a congenital melanocytic nevus. We describe 2 reports of array comparative genomic hybridization analysis of de novo congenital melanoma. The first patient was male, and the second was female; both had a scalp lesion present at birth, which grew quickly. The scalp mass from patient 1 showed a heterogeneous, anaplastic melanocytic neoplasm with large size and depth, high mitotic rate, ulceration, and necrosis. The scalp mass from patient 2 showed a broad melanocytic neoplasm with single cell and junctional nested proliferation at the dermal-epidermal junction and cellular, confluent aggregates of highly atypical melanocytes in the dermis with high mitotic rate. Patient 1 had lung and liver metastases detected by radiologic imaging and was treated with cisplatin, vinblastine, and dacarbazine but expired at the age of 5 months. Patient 2 developed a metastasis to the right neck with similar histologic features, and pulmonary metastases were also detected by imaging. Patient 2 is currently alive at the age of 4 years. Array comparative genomic hybridization analysis of the first case revealed loss of chromosomes 3p26.3-p21.31, 5p15.33-q23.1, 11q15.5-q13.2, 14 (complete deletion), and 15q11.1-q22.31. The second case displayed gains in chromosomes 1q21.1-q44, 2p25.3-p11.1, 2q11.1-q37.3, 6p25.3-p11.1, 7p22.3-p11.2, 7q11.1-q36.3, 8p23.3-p11.1, 8q11.1-q24.3, 9p24.3-p11.2, 9q12-q34.3, 11q13.2-q13.4, 13q11-q34, 18p11.32-p11.21, 19p13.3-p11, 19q11-q13.43, 20p13-p11.1, and 20q11.21-q13.33. In both cases, the presence of multiple chromosomal aberrations corroborated the diagnosis of melanoma.
Предметные рубрики MeSH
Antineoplastic Combined Chemotherapy ProtocolsBiomarkers, TumorBiopsyCell ProliferationChemotherapy, AdjuvantChild, PreschoolChromosome AberrationsChromosomes, HumanComparative Genomic HybridizationFatal OutcomeFemaleGenetic Predisposition to DiseaseHead and Neck NeoplasmsHumansImmunohistochemistryInfantMaleMelanomaMitotic IndexPhenotypePredictive Value of TestsScalpSkin NeoplasmsTime FactorsTreatment OutcomeTumor BurdenCutaneous Malignant Melanoma