Singh Krishna, Moore Stephen, Sandoval Marina, Balzer Bonnie, Frishberg David, Lewin Sheryl, Schreck Rhona, Raffel Leslie
*Cedars-Sinai Medical Genetics Institute, Los Angeles, CA; †Department of Obstetrics and Gynecology, Division of Maternal Fetal Medicine, Cedars-Sinai Medical Center, Los Angeles, CA; ‡Department of Molecular and Medical Genetics, Oregon Health and Science University, Portland, OR; §The Dermatology Group, West Orange, NJ; ¶Department of Pathology, Cedars-Sinai Medical Center, Los Angeles, CA; and ‖Plastic Surgery for Children, Santa Monica, CA.
Am J Dermatopathol. 2013 Dec;35(8):e135-8. doi: 10.1097/DAD.0b013e318284a679.
Although rare, congenital malignant melanoma (CMM) should be considered in the differential diagnosis of congenital skin lesions. We report a case of CMM in a 4-month-old infant presenting with an enlarging scalp mass, initially thought to be a hemangioma. Incisional biopsy of the lesion showed a compound congenital nevus with atypical cells suggestive of a proliferative nodule versus malignancy on histopathology. Subsequent excisional biopsy revealed malignant melanoma, and further workup confirmed extensive disease with distant metastases. Cytogenetic analysis of both the tumor sites showed highly abnormal karyotypes including pseudotetraploidy, telomere associations, and evidence of gene amplification, all consistent with malignancy. Fluorescence in situ hybridization demonstrated amplification of the MYC gene, with no copy number changes in CDKN2A (INK4/ARF), PTEN, or Cyclin D1. Our report details the cytogenetic and molecular studies of CMM, which provide insight into the biologic behavior of the lesions and may confirm diagnosis when histopathology is not determinant.
尽管先天性恶性黑色素瘤（CMM）很罕见，但在先天性皮肤病变的鉴别诊断中应予以考虑。我们报告了一例4个月大婴儿的CMM病例，该婴儿头皮肿物逐渐增大，最初被认为是血管瘤。病变的切开活检显示为复合性先天性痣，伴有非典型细胞，组织病理学提示增殖性结节与恶性肿瘤。随后的切除活检显示为恶性黑色素瘤，进一步检查证实存在广泛疾病并伴有远处转移。对两个肿瘤部位的细胞遗传学分析显示高度异常的核型，包括假四倍体、端粒关联和基因扩增证据，均与恶性肿瘤一致。荧光原位杂交显示MYC基因扩增，而CDKN2A（INK4/ARF）、PTEN或细胞周期蛋白D1无拷贝数变化。我们的报告详细介绍了CMM的细胞遗传学和分子研究，这些研究有助于深入了解病变的生物学行为，并且在组织病理学不能确定诊断时可能有助于确诊。
