Melanoma and LEOPARD Syndrome: Understanding the Role of PTPN11 Mutations in Melanomagenesis

Authors

  • Rodolfo David Palacios-Diaz Dermatology Department, Hospital Universitari i Politècnic La Fe, Valencia, Spain https://orcid.org/0000-0002-8353-7481
  • Mónica Pozuelo-Ruiz Dermatology Department, Hospital Universitari i Politècnic La Fe, Valencia, Spain
  • Blanca de Unamuno-Bustos Dermatology Department, Hospital Universitari i Politècnic La Fe, Valencia, Spain https://orcid.org/0000-0003-4073-145X
  • Margarita Llavador-Ros Pathology Department, Hospital Universitari i Politècnic La Fe, Valencia, Spain
  • Rafael Botella-Estrada Dermatology Department, Hospital Universitari i Politècnic La Fe, Valencia, Spain https://orcid.org/0000-0002-6153-8192

DOI:

https://doi.org/10.2340/actadv.v104.14720

Keywords:

melanoma, Noonan syndrome with multiple lentigines, LEOPARD, PTPN11

Abstract

Abstract is missing (Short communication)

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References

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Bessis D, Miquel J, Bourrat E, Chiaverini C, Morice-Picard F, Abadie C, et al. Dermatological manifestations in Noonan syndrome: a prospective multicentric study of 129 patients positive for mutation. Br J Dermatol 2019; 180: 1438-1448.

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Motegi SI, Yokoyama Y, Ogino S, Yamada K, Uchiyama A, Perera B, et al. Pathogenesis of multiple lentigines in LEOPARD syndrome with PTPN11 Gene mutation. Acta Derm Venereol 2015; 95: 978-84.

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Seishima M, Mizutani Y, Shibuya Y, Arakawa C, Yoshida R, Ogata T. Malignant melanoma in a woman with LEOPARD syndrome: identification of a germline PTPN11 mutation and a somatic BRAF mutation. Br J Dermatol 2007; 157: 1297-1299.

https://doi.org/10.1111/j.1365-2133.2007.08229.x DOI: https://doi.org/10.1111/j.1365-2133.2007.08229.x

Cheng YP, Chiu HY, Hsiao TL, Hsiao CH, Lin CC, Liao YH. Scalp melanoma in a woman with LEOPARD syndrome: possible implication of PTPN11 signaling in melanoma pathogenesis. J Am Acad Dermatol 2013; 69: e186-187.

https://doi.org/10.1016/j.jaad.2013.04.033 DOI: https://doi.org/10.1016/j.jaad.2013.04.033

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García-Gil MF, Álvarez-Salafranca M, Valero-Torres A, Ara-Martín M. Melanoma in Noonan syndrome with multiple lentigines (LEOPARD syndrome): a new case. Actas Dermosifiliogr 2020; 111: 619-621. DOI: https://doi.org/10.1016/j.adengl.2020.08.007

https://doi.org/10.1016/j.ad.2019.01.017 DOI: https://doi.org/10.1016/j.ad.2019.01.017

Polubothu S, Bender N, Muthiah S, Zecchin D, Demetriou C, Martin SB, et al. PTPN11 mosaicism causes a spectrum of pigmentary and vascular neurocutaneous disorders and predisposes to melanoma. J Invest Dermatol 2023; 143: 1042-1051.e3.

https://doi.org/10.1016/j.jid.2022.09.661 DOI: https://doi.org/10.1016/j.jid.2022.09.661

Published

2024-01-08

How to Cite

Palacios-Diaz, R. D., Pozuelo-Ruiz, M., de Unamuno-Bustos, B., Llavador-Ros, M., & Botella-Estrada, R. (2024). Melanoma and LEOPARD Syndrome: Understanding the Role of PTPN11 Mutations in Melanomagenesis. Acta Dermato-Venereologica, 104, adv14720. https://doi.org/10.2340/actadv.v104.14720

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