Giant congenital nodular melanoma in a newborn: a case report and literature review

Abstract

Background Malignant melanoma (MM) arises predominantly after adolescence and is uncommon in children. Congenital MM in newborns is even rarer with a dearth of published literature; as a consequence, there is no uniform standard for the pathogenesis and treatment for neonatal malignant melanoma. Herein we report a case of giant congenital nodular MM in a newborn, including its clinical, imaging, pathological and molecular pathological features. This case is the largest giant congenital primary nodular malignant melanoma in utero in neonates currently reported in China. Case presentation A female neonatal patient was found to have a 2.97 cm× 1.82 cm×1.50 cm mass with a clear boundary at the right acromion in color Doppler ultrasound examination at 24 weeks of gestation. The mass increased to 3.0 cm×5.0 cm×9.0 cm at birth, and local ulceration was seen. MRI demonstrated that the mass was located on the right shoulder and underarm in a lobulated appearance, and surrounded the right scapula which was deformed. Clinical stage:IV(AJCC 8th Edition (2017)). α-Fetoprofein (AFP) by hematological examination: 1210ng/ml, NSE: 21.28ng/ml, LDH: 842U/L. The patient underwent surgical resection of the tumor, and was pathologically diagnosed as neonatal congenital malignant melanoma; immunohistochemistry (IHC): S-100 (+), HMB45 (+), Melan A (+), and Tyrosinase (+). Molecular pathological examination for BRAF V600E showed no mutations (Quantitative Real-time PCR, qPCR); And so were NRAS, C-kit (exons 9,11,13,14,17,18), and TERT (promoter locus, C228T and C250T) (Sanger sequencing). Non-surgical therapies were not carried out after the surgical resection of the tumor. After 6 months of follow-up, the child developed normally, and color Doppler ultrasound showed no obvious tumor growth or abnormality in the original tumor site. Conclusions It is extremely rare to see giant congenital primary nodular MM in utero in neonates. The pathogenesis, treatment and prognosis of congenital MM need further research. The diagnosis mainly depends on histopathology and immunohistochemistry, and it needs to be differentiated from malignant lymphoma and primitive neuroectodermal tumor. The current treatment strategy for MM relies on the surgical excision of the mass. Research directed at molecular detection for genetic mutations would contribute to targeted therapy and better prognosis.

Neonatal cutaneous melanoma with cutaneous metastasis: a case report and review of literature

“…Findings from our literature review and reported cases can be found in supplemental digital content (See Tables 2 and 3, Supplemental Digital Content 3, http://links.lww. com/MR/A369 and Supplemental Digital Content 4, http:// links.lww.com/MR/A370 which shows the literature review for patients diagnosed neonatally with malignant melanoma) [3][4][5][6][7][8][9][10][11][12][13][14][15].…”

“…Congenital and neonatal malignant melanoma is a subgroup of the pediatric population, and the reported number of cases is limited to 13 case reports. Findings from our literature review and reported cases can be found in supplemental digital content (See Tables 2 and 3, Supplemental Digital Content 3, http://links.lww.com/MR/A369 and Supplemental Digital Content 4, http://links.lww.com/MR/A370 which shows the literature review for patients diagnosed neonatally with malignant melanoma) [3–15].…”

Congenital malignant melanoma- the unique entity of pediatric melanoma: two case reports and literature review

“…Congenital malignant melanoma is present at birth or in the rst year of life and is exceedingly rare, with only 29 cutaneous cases (Table . 1) reported in the English language medical literature since 1925 (24,35). It is a unique entity and the epidemiological features is di cult to determine due to the limited cases.…”