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Case Reports
. 2019 Feb 19;14(1):21.
doi: 10.1186/s13000-019-0797-1.

Melanoma arising in a Giant congenital melanocytic nevus: two case reports

Tatiana S Belysheva  1 , Yana V Vishnevskaya  1 , Tatiana V Nasedkina  1   2 , Marina A Emelyanova  2 , Ivan S Abramov  1   2 , Kristina V Orlova  3 , Ludmila N Lubchenko  1 , Igor A Utyashev  1 , Marina B Doroshenko  1 , Lev V Demidov  1 , Mamed D Aliev  1
Affiliations
Case Reports

Melanoma arising in a Giant congenital melanocytic nevus: two case reports

Tatiana S Belysheva et al. Diagn Pathol. .

Abstract

Background: A giant congenital melanocytic nevus (GCMN) is found in 0.1% of live-born infants. If present, the lesion has a chance of about 6% to develop into malignant melanoma. Both children and adults can be affected by malignant melanoma arising in a giant congenital nevus. Up to 95% of GCMNs harbor NRAS mutations, and mutations in the BRAF, MC1R, TP53, and GNAQ genes have also been described. The individualization of therapy is required, but diagnostic and prognostic criteria remain controversial.

Case presentations: We report two cases: 1) melanoma arising in a giant congenital nevus during the first month of life complicated with neurocutaneous melanosis (NCM), and 2) melanoma arising in a giant congenital nevus during the first 6 months of life. Pathology, immunohistochemistry, and genetic analyses of tumor tissue were performed. The first case revealed only a non-pathogenic P72R polymorphism of the TP53 gene in the homozygote condition. For the second case, a Q61K mutation was detected in the NRAS gene.

Conclusion: Malignant melanoma associated with GCMN is rare and therefore poorly understood. Outcomes have been linked to the stage at diagnosis, but no additional pathological prognostic factors have been identified. The most frequent genetic event in giant CMNs is NRAS mutations, which was discovered in one of our cases. To accumulate evidence to improve disease prognosis and outcomes, children with congenital melanocytic nevus should be included in a systemic follow-up study from birth.

Keywords: Genetic analysis; Giant congenital melanocytic nevus; Infants; Melanoma; NRAS mutation; Neurocutaneous melanosis.

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Conflict of interest statement

Ethics approval and consent to participate

Parents of the patients provided informed consent. The study was approved by the Ethical Committee of the Federal State Budgetary Institution “N.N. Blokhin Medical Research Center of Oncology” of the Ministry of Health of the Russian Federation.

Consent for publication

Written informed consents for publication of their clinical details and/or clinical images were obtained from the parents of the patients. A copy of the consent forms is available for review by the Editor of this journal.

Competing interests

The authors declare that they have no competing interests.

Publisher’s Note

Springer Nature remains neutral with regard to jurisdictional claims in published maps and institutional affiliations.

Figures

Fig. 1
Fig. 1
Patient M at 22 days old before surgery. a Front and (b) back views. A nodule was diagnosed in the lumbar-sacral part (marked with a red circle)
Fig. 2
Fig. 2
Cutaneous melanoma; hematoxylin and eosin staining. a Nodular melanoma. Polymorphous melanocytes in the basal layer of the epidermis (transparent arrow) in the dermis in the condition of nested clusters and fields (black arrow), × 10 magnification. b Ulceration on the surface of the tumor (arrow), × 10 magnification
Fig. 3
Fig. 3
Cutaneous melanoma; immunohistochemical staining of Ki-67. a × 10 and (b) × 40 magnifications
Fig. 4
Fig. 4
Magnetic resonance imaging shows the presence of melanin in the structure of the brain. a Postcontrast axial T1-weighted (W) MRI and (b) postcontrast sagittal T1W image with focus on the altered MR signal in the left hemisphere of the cerebellum is determined. c Sagittal T1W image with focus on the abnormal MR signal on the cerebral pia mater of the cerebellum. The imaging findings described were diagnostic for neurocutaneous melanosis
Fig. 5
Fig. 5
Patient L at 5 months old before treatment. a Front view and (b) back view
Fig. 6
Fig. 6
A melanoma satellite in the subcutaneous tissue. Hematoxylin and eosin staining, × 5 magnification
See this image and copyright information in PMC

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