Mosaic <scp>RAS</scp>opathies: phenotypic and genotypic differentiation of naevus spilus‐type congenital melanocytic naevus and segmental naevus spilus

Lee, S.B.; Hummel, Hanna; Krengel, Sven; Enk, Alexander; Haenssle, Holger A.

doi:10.1111/jdv.13173

Cited by 8 publications

(6 citation statements)

References 5 publications

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“…A spilus-type CMN is composed of a large cafe-au-lait macule extending across the midline and superimposed hypertrichotic medium to large CMNs, mostly present at birth (Lee et al, 2016). We have characterized many patients with spilus-type CMN and confirm that NRAS alterations are found in a subset of lesions.…”

Section: Discussionsupporting

confidence: 55%

Genetic Abnormalities in Large to Giant Congenital Nevi: Beyond NRAS Mutations

Silva

Martínez-Barrios

Tell‐Martí

et al. 2019

Journal of Investigative Dermatology

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Large and giant congenital melanocytic nevi (CMN) are rare melanocytic lesions mostly caused by postzygotic NRAS alteration. Molecular characterization is usually focused on NRAS and BRAF genes in a unique biopsy sample of the CMN. However, large/giant CMN may exhibit phenotypic differences among distinct areas, and patients differ in features such as presence of multiple CMN or spilus-like lesions. Herein, we have characterized a series of 21 large/giant CMN including patients with spilus-type nevi (9/21 patients, 42.8%). Overall, 53 fresh frozen biopsy samples corresponding to 40 phenotypically characterized areas of large/giant CMNs and 13 satellite lesions were analyzed with a multigene panel and RNA sequencing. Mutational screening showed mutations in 76.2% (16/21) of large/giant CMNs. A NRAS mutation was found in 57.1% (12/21) of patients, and mutations in other genes such as BRAF, KRAS, APC, and MET were detected in 14.3% (3/21) of patients. RNA sequencing showed the fusion transcript ZEB2-ALK and SOX5-RAF1 in large/giant CMN from two patients without missense mutations. Both alterations were not detected in unaffected skin and were detected in different areas of affected skin. These findings suggest that large/giant CMN may result from distinct molecular events in addition to NRAS mutations, including point mutations and fusion transcripts.

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Section: Discussionsupporting

confidence: 55%

Genetic Abnormalities in Large to Giant Congenital Nevi: Beyond NRAS Mutations

Silva

Martínez-Barrios

Tell‐Martí

et al. 2019

Journal of Investigative Dermatology

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“…Specifically, NRAS G13R mutation has been previously reported in association with spilus-type LG-CMN, as in our case. [1][2][3][4] In contrast, to our knowledge, there are no reports about DDR2 T93I expression in LG-CMN.…”

Section: Editormentioning

confidence: 85%

“…The exact role of those genes in the pathogenesis of LG-CMN remains unknown. [1][2][3][4] We report the first case of spilus-type LG-CMN with discoidin domain-containing receptor 2 (DDR2) mutation.…”

Section: Editormentioning

confidence: 99%

DDR2 mutation in a spilus‐type giant congenital melanocytic nevus

Gallo-Pineda

Ortiz-Prieto

Villegas‐Romero

et al. 2022

Acad Dermatol Venereol

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“…While classic NS and NS‐like CMN are similar in clinical settings, the risk of melanoma development and neurocutaneous melanosis appeared to be more prominent in NS‐like CMN cases 2,8 . It is, therefore, necessary to differentiate between the two phenotypes.…”

Section: Discussionmentioning

confidence: 99%

Genetic and phenotypic diversities of nevus spilus phenotypes: Case series and a proposed diagnostic algorithm

Zhang,

Xu,

Deng

2023

Clinical Genetics

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Nevus spilus (NS) is composed of multiple types that characterized by a congenital hyperpigmented patch within variable even superimposed lesions originating from melanocytic lineage cells. The molecular mechanism and classification of diverse NS phenotypes remain unclear. Five children with a phenotype of NS were genotyped by the panel based on next‐generation sequencing in this study. DNA from biopsies, blood samples and hair follicle were sequenced to confirm the presence of a somatic mutation. Sequencing results indicated somatic mutation in the gene of NRAS or HRAS in all biopsies from the nevi, and the pathogenic variants were not detected in the samples of blood and hair follicle. This study successfully identified the somatic mutation in five unrelated children with diverse NS phenotypes. Moreover, it provided typical images and differential diagnoses between variable NS phenotypes in clinical, pathological, and genetic features, and first proposed a clinical diagnostic algorithm that contributed to simplifying and optimizing the diagnoses and management of these overlapped diseases.

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Mosaic RASopathies: phenotypic and genotypic differentiation of naevus spilus‐type congenital melanocytic naevus and segmental naevus spilus

Cited by 8 publications

References 5 publications

Genetic Abnormalities in Large to Giant Congenital Nevi: Beyond NRAS Mutations

Genetic Abnormalities in Large to Giant Congenital Nevi: Beyond NRAS Mutations

DDR2 mutation in a spilus‐type giant congenital melanocytic nevus

Genetic and phenotypic diversities of nevus spilus phenotypes: Case series and a proposed diagnostic algorithm

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