A mosaic variant in MAP2K1 is associated with giant naevus spilus-type congenital melanocytic naevus and melanoma development

S Muthiah^{1

2}, S Polubothu^{3

4}, A Husain⁵, T Oliphant², V A Kinsler^{3

4}, N Rajan^{1

2}

Affiliations

¹ Institute of Genetic Medicine, University of Newcastle upon Tyne, Newcastle upon Tyne, UK.
² Department of Dermatology, Royal Victoria Infirmary, Newcastle upon Tyne, UK.
³ Paediatric Dermatology, Great Ormond Street Hospital for Children, NHS Foundation Trust, London, UK.
⁴ Francis Crick Institute, London, UK.
⁵ Department of Cellular Pathology, Royal Victoria Infirmary, Newcastle upon Tyne, UK.

S Muthiah et al. Br J Dermatol. 2020 Oct.

. 2020 Oct;183(4):760-761.

doi: 10.1111/bjd.19118. Epub 2020 May 26.

S Muthiah^{1

2}, S Polubothu^{3

4}, A Husain⁵, T Oliphant², V A Kinsler^{3

4}, N Rajan^{1

2}

¹ Institute of Genetic Medicine, University of Newcastle upon Tyne, Newcastle upon Tyne, UK.
² Department of Dermatology, Royal Victoria Infirmary, Newcastle upon Tyne, UK.
³ Paediatric Dermatology, Great Ormond Street Hospital for Children, NHS Foundation Trust, London, UK.
⁴ Francis Crick Institute, London, UK.
⁵ Department of Cellular Pathology, Royal Victoria Infirmary, Newcastle upon Tyne, UK.

No abstract available

References

1. Krengel S, Widmer DS, Kerl K et al. Naevus spilus-type congenital melanocytic naevus associated with a novel NRAS codon 61 mutation. Br J Dermatol 2016; 174:642-4.
1. Schaffer JV, Orlow SJ, Lazova R, Bolognia JL. Speckled lentiginous nevus: within the spectrum of congenital melanocytic nevi. Arch Dermatol 2001; 137:172-8.
1. Al-Olabi L, Polubothu S, Dowsett K et al. Mosaic RAS/MAPK variants cause sporadic vascular malformations which respond to targeted therapy. J Clin Invest 2018; 128:1496-508. Erratum in: J Clin Invest 2018; 128:5185.
1. Martins da Silva V, Martinez-Barrios E, Tell-Martí G et al. Genetic abnormalities in large to giant congenital nevi: beyond NRAS mutations. J Invest Dermatol 2019; 139:900-8.
1. Nikolaev SI, Rimoldi D, Iseli C et al. Exome sequencing identifies recurrent somatic MAP2K1 and MAP2K2 mutations in melanoma. Nat Genet 2011; 44:133-9.