Congenital malignant melanoma: A case report with cytogenetic studies

Krishna Singh, Stephen Moore, Marina Sandoval, Bonnie Balzer, David Frishberg, Sheryl Lewin, Rhona Schreck, Leslie Raffel

Research output: Contribution to journalArticlepeer-review

12 Scopus citations


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.

Original languageEnglish (US)
Pages (from-to)e135-e138
JournalAmerican Journal of Dermatopathology
Issue number8
StatePublished - Dec 2013


  • Congenital malignant melanoma
  • Congenital melanocytic nevus

ASJC Scopus subject areas

  • Pathology and Forensic Medicine
  • Dermatology


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