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 journalArticle

9 Citations (Scopus)

Abstract

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)
JournalAmerican Journal of Dermatopathology
Volume35
Issue number8
DOIs
StatePublished - Dec 2013

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Cytogenetics
Melanoma
Gene Amplification
Abnormal Karyotype
Biopsy
Neoplasms
Nevus
Cytogenetic Analysis
Cyclin D1
Telomere
Hemangioma
Scalp
Fluorescence In Situ Hybridization
Differential Diagnosis
Neoplasm Metastasis
Skin

Keywords

  • Congenital malignant melanoma
  • Congenital melanocytic nevus

ASJC Scopus subject areas

  • Pathology and Forensic Medicine
  • Dermatology

Cite this

Congenital malignant melanoma : A case report with cytogenetic studies. / Singh, Krishna; Moore, Stephen; Sandoval, Marina; Balzer, Bonnie; Frishberg, David; Lewin, Sheryl; Schreck, Rhona; Raffel, Leslie.

In: American Journal of Dermatopathology, Vol. 35, No. 8, 12.2013.

Research output: Contribution to journalArticle

Singh, K, Moore, S, Sandoval, M, Balzer, B, Frishberg, D, Lewin, S, Schreck, R & Raffel, L 2013, 'Congenital malignant melanoma: A case report with cytogenetic studies', American Journal of Dermatopathology, vol. 35, no. 8. https://doi.org/10.1097/DAD.0b013e318284a679
Singh, Krishna ; Moore, Stephen ; Sandoval, Marina ; Balzer, Bonnie ; Frishberg, David ; Lewin, Sheryl ; Schreck, Rhona ; Raffel, Leslie. / Congenital malignant melanoma : A case report with cytogenetic studies. In: American Journal of Dermatopathology. 2013 ; Vol. 35, No. 8.
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