title: De novo congenital melanoma: analysis of 2 cases with array comparative genomic hybridization.
abstract: 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.
authors: *Department of Pathology and Laboratory Medicine, UCLA Medical Center, Los Angeles, CA; and Departments of †Pathology and Laboratory Medicine, and ‡Pediatrics, Division of Hematology/Oncology, Children's Hospital Los Angeles, Keck School of Medicine of University of Southern California, Los Angeles, CA.
authors: Albert
authors: A
authors: Su
authors: Lawrence
authors: L
authors: Low
authors: Xinmin
authors: X
authors: Li
authors: Shengmei
authors: S
authors: Zhou
authors: Leo
authors: L
authors: Mascarenhas
authors: Raymond L
authors: RL
authors: Barnhill
mesh_terms: D000971:Antineoplastic Combined Chemotherapy Protocols; D014408:Biomarkers, Tumor / Q000235:genetics*; D001706:Biopsy; D049109:Cell Proliferation; D017024:Chemotherapy, Adjuvant; D002675:Child, Preschool; D002869:Chromosome Aberrations; D002877:Chromosomes, Human; D055028:Comparative Genomic Hybridization; D017809:Fatal Outcome; D005260:Female; D020022:Genetic Predisposition to Disease; D006258:Head and Neck Neoplasms / Q000737:chemistry / Q000151:congenital* / Q000473:pathology / Q000628:therapy; D006801:Humans; D007150:Immunohistochemistry; D007223:Infant; D008297:Male; D008545:Melanoma / Q000737:chemistry / Q000151:congenital* / Q000556:secondary / Q000628:therapy; D008940:Mitotic Index; D010641:Phenotype; D011237:Predictive Value of Tests; D012535:Scalp / Q000737:chemistry / Q000473:pathology*; D012878:Skin Neoplasms / Q000737:chemistry / Q000151:congenital* / Q000473:pathology / Q000628:therapy; D013997:Time Factors; D016896:Treatment Outcome; D047368:Tumor Burden; D000096142:Cutaneous Malignant Melanoma
chemical_list: D014408:Biomarkers, Tumor