Proliferative Nodules vs Melanoma Arising in Giant Congenital Melanocytic Nevi During Childhood

Vergier, Béatrice; Laharanne, Elodie; Prochazkova-Carlotti, Martina; Fouchardière, Arnaud de la; Merlio, Jean-Philippe; Kadlub, Natacha; Avril, Marie-Françoise; Bodemer, Christine; Lacoste, Caroline; Boralévi, F.; Taı̈eb, Alain; Ezzedine, Khaled; Fraïtag, Sylvie

doi:10.1001/jamadermatol.2016.2667

Cited by 22 publications

(36 citation statements)

References 15 publications

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“…The following histologic mimics may occur with some frequency in the pediatric population and are prone to be diagnosed erroneously as pediatric melanoma: (i) Spitz nevi and atypical variants 1 ; (ii) proliferative nodules in congenital nevi 23,24 ; (iii) acquired melanocytic nevi from particular anatomic sites such as the scalp, 25,26 genital area, 27,28 conjunctiva, 29…”

Section: Histologic Mimicsmentioning

confidence: 99%

Pathology and genomics of pediatric melanoma: A critical reexamination and new insights

Bahrami

Barnhill

2017

Pediatric Blood & Cancer

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The clinicopathologic features of pediatric melanoma are distinct from those of the adult counterpart. For example, most childhood melanomas exhibit a uniquely favorable biologic behavior, save for those arising in large/giant congenital nevi. Recent studies suggest that the characteristically favorable biologic behavior of childhood melanoma may be related to extreme telomere shortening and dysfunction in the cancer cells. Herein, we review the genomic profiles that have been defined for the different subtypes of pediatric melanoma and particularly emphasize the potential prognostic value of telomerase reverse transcriptase alterations for these tumors.

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Section: Histologic Mimicsmentioning

confidence: 99%

Pathology and genomics of pediatric melanoma: A critical reexamination and new insights

Bahrami

Barnhill

2017

Pediatric Blood & Cancer

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“…10 This result showed that the genetic background of DDM-GCN could be different in these two subgroups. 10 This hypothesis was supported by the different p16 immunohistochemical expression (strong expression in PNs-GCN and DDMs-GCN in children, no expression in adjacent GCN and in 4 DDMs-GCN in adults), suggesting that UV-induced p16-loss could be involved in adults but not in pediatric populations. 10 6,9,10 This hypothesis has been suggested on the basis of a different involvement of 9p and p16 proteins in adults but not in children, and strongly supported by the low rate of UV-induced mutations found in DDM-GCN in children.…”

Section: Case Reportmentioning

confidence: 89%

Next‐generation sequencing revealing TP53 mutation as potential genetic driver in dermal deep‐seated melanoma arising in giant congenital nevus in adult patients: A unique case report and review of the literature

et al. 2020

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Melanoma in giant congenital nevus (M-GCN) is a rare and potentially lethal neoplasm. In children, M-GCN appears as a dermal/deep-seated melanoma (DDM-GCN) with histopathologic features difficult to distinguish from proliferative nodules (PNs-GCN). DDM-GCN in adults is an anecdotal entity and only 8 cases have been described and genetically characterized. We report the first case of DDM-GCN in a 34-year-old man characterized with a large-panel next-generation sequence (NGS) highlighting a TP53 mutation with a UV-signature (C>T substitution) in DDM but not in PNs-GCN and GCN. Curiously, DDM showed an aberrant p16 overexpression without detection of CDKN2A mutation at NGS. In line with previous studies, it supports a different pathway in children and adults: UV-induced mutations may be involved in the latter not only by CDKN2A but also by TP53 mutations, with a potentially confusing overexpression of p16 protein. While these data need to be confirmed in larger cases series, our results show that NGS could be an additional genetic diagnostic tool in DDM-GCN. K E Y W O R D S giant congenital nevus, proliferative nodules, melanoma, TP53 mutation Melanoma in giant congenital nevus (M-GCN) is a rare, potentially lethal neoplasm. In children M-GCN appears as a dermal/deep-seated melanoma

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“…However, it should be kept in mind that focal growth, ulceration, dark pigmentation, pruritus, pain and bleeding can be the warning signs of malignant transformation [5]. Furthermore, benign proliferative nodules which occur in congenital melanocytic nevi should be considered in differential diagnosis of malignant melanoma both clinically and histopathologically [6]. Su Han et al reported a newborn with a giant congenital nevus with benign proliferative nodules on the genitalia which resembled a congenital malignant melanoma [7].…”

Section: Discussionmentioning

confidence: 99%

Giant congenital melanocytic nevus coexisting with an asymmetric posture

Tamer¹,

Yüksel²

2018

Our Dermatol Online

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Proliferative Nodules vs Melanoma Arising in Giant Congenital Melanocytic Nevi During Childhood

Cited by 22 publications

References 15 publications

Pathology and genomics of pediatric melanoma: A critical reexamination and new insights

Pathology and genomics of pediatric melanoma: A critical reexamination and new insights

Next‐generation sequencing revealing TP53 mutation as potential genetic driver in dermal deep‐seated melanoma arising in giant congenital nevus in adult patients: A unique case report and review of the literature

Giant congenital melanocytic nevus coexisting with an asymmetric posture

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