TY - JOUR
T1 - Congenital malignant melanoma
T2 - A case report with cytogenetic studies
AU - Singh, Krishna
AU - Moore, Stephen
AU - Sandoval, Marina
AU - Balzer, Bonnie
AU - Frishberg, David
AU - Lewin, Sheryl
AU - Schreck, Rhona
AU - Raffel, Leslie
PY - 2013/12
Y1 - 2013/12
N2 - ABSTRACT:: 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.
AB - ABSTRACT:: 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.
KW - Congenital malignant melanoma
KW - Congenital melanocytic nevus
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U2 - 10.1097/DAD.0b013e318284a679
DO - 10.1097/DAD.0b013e318284a679
M3 - Article
C2 - 23907318
AN - SCOPUS:84890859908
SN - 0193-1091
VL - 35
SP - e135-e138
JO - American Journal of Dermatopathology
JF - American Journal of Dermatopathology
IS - 8
ER -