Aggressive melanoma in an infant with congenital melanocytic nevus syndrome and multiple, <i><scp>NRAS</scp></i> and <i><scp>BRAF</scp></i> mutation‐negative nodules

Carrillo, Daniel de la Rosa; Vindenes, Harald; Kinsler, Veronica A.; Rønnestad, Arild; Ringstad, Geir; Müller, Lil-Sofie Ording; Tafjord, Svetlana; Tønseth, Kim Alexander; Kvamme, Bjørn; Clausen, O. P. F.

doi:10.1111/pde.13595

Cited by 8 publications

(3 citation statements)

References 14 publications

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“…NCM is a rare complication that worsens the prognosis of GCN patients. NCM is neuromelanosis associated with CMN, which describes melanocytic proliferation (benign or malignant and nodular or diffuse) within the leptomeninges and brain parenchyma [4–6, 9–11]. Kadonaga described NCM and redefined it as the presence of a CMN larger than 20 cm or multiple CMN (more than three) in association with meningeal melanosis or melanoma [39].…”

Section: Discussionmentioning

confidence: 99%

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

et al. 2019

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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.

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Section: Discussionmentioning

confidence: 99%

“…GCMN usually occurs sporadically [9, 10], but rare familial cases have also been reported [11, 12]. A report of monozygotic twins discordant for GCMN suggests that a postzygotic event might be involved [10].…”

Section: Introductionmentioning

confidence: 99%

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

et al. 2019

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“…In some cases, no mutations in the genes examined were found in CMN 24 . One report described a patient with multiple CMN who died of metastatic disease at 5 months old, but no BRAF or NRAS mutation identified in spite of multiple biopsies 26 …”

Section: Genetics Of Congenital Melanocytic Naevimentioning

confidence: 99%

Congenital melanocytic naevi: An up‐to‐date overview

et al. 2021

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Congenital melanocytic naevi are hamartomas of the neuroectoderm caused by genetic mosaicism. Congenital melanocytic naevi are seen in 1-6% of all live births and commonly classified based on the projected size in adults. Congenital melanocytic naevi appear in different colours, shapes, and sizes, and occasionally present with complications. In this review, we sought to evaluate congenital melanocytic naevi, their clinical, dermatoscopic, and reflectance confocal microscopic features, behavioural pattern over time, new trends in classification, underlying genetic factors and their influence on clinical manifestations and management, associated risks, complications, magnetic resonance imaging findings and their management in the light of recent literature.

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Congenital Naevi and Selected Naevoid Conditions

Kinsler,

Sebire

2024

Rook's Textbook of Dermatology

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The understanding of congenital naevi has evolved rapidly in the last few years, with the discovery of many of the causative genes, and an increasing understanding of the phenotypic correlates of genotypic mosaicism in the skin. The classification of all congenital naevi is reviewed, based on phenotype, histology and genetics. This allows for the addition of new conditions as they are discovered, and for the regrouping of previously distinct disorders. The clinical features and extracutaneous associations of different congenital naevi are reviewed, as well as those of non‐naevus‐like developmental abnormalities of the skin.

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Aggressive melanoma in an infant with congenital melanocytic nevus syndrome and multiple, NRAS and BRAF mutation‐negative nodules

Cited by 8 publications

References 14 publications

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

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

Congenital melanocytic naevi: An up‐to‐date overview

Congenital Naevi and Selected Naevoid Conditions

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