Congenital Malignant Melanoma

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.

Congenital and infantile malignant melanoma of the scalp: A systematic review

“…The frequency of necrosis and its significance as a prognostic factor increases with tumor thickness [28] . Tumor necrosis was seen in5, and ulceration was seen in 6 cases of congenital and infantile malignant melanoma [7] , [8] , [9] , [11] , [17] ; all patients with tumor necrosis had a poor prognosis.…”

“…Our literature search revealed 10 cases of congenital [7] , [8] , [9] , [11] , [15] , [16] , [17] , [18] , [19] , and 3 cases of infantile [13] , [20] , [21] malignant melanoma that were located on the scalp. Six of the 10 congenital scalp melanoma cases and one case of infantile melanoma arose from congenital melanocytic nevi, whereas remaining cases were de-novo in origin.…”

“…Outcomes of malignant melanoma of scalp are generally unfavourable. Of the thirteen reported cases, 6 expired within 6 months of age [4] , [7] , [8] , [11] , 1 was lost to follow-up and remaining were alive at least till the last follow-up [4] , [9] .…”

“…Congenital and infantile malignant melanomas are the least common variety of pediatric melanomas. Only 36 cases of congenital and infantile melanomas have been reported in literature since 1925 [4] , [5] , [6] , [7] , [8] , [9] , [10] , [11] , [12] .…”