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Expanding spectrum of "spitzoid" lesions: a small series of 4 cases with MAP2K1 mutations.
Kerckhoffs, K G P; Aallali, T; Ambarus, C A; Sigurdsson, V; Jansen, A M L; Blokx, W A M.
Afiliación
  • Kerckhoffs KGP; Department of Pathology, Maastricht University Medical Center+, Maastricht, The Netherlands. kelly.kerckhoffs@mumc.nl.
  • Aallali T; Symbiant Pathology Expert Center, Hoorn/Zaandam, The Netherlands.
  • Ambarus CA; Department of Pathology, Sint Antonius Hospital, Nieuwegein, The Netherlands.
  • Sigurdsson V; Department of Dermatology, University Medical Center Utrecht, Utrecht, The Netherlands.
  • Jansen AML; Department of Pathology, Division of Laboratories, Pharmacy and Biomedical Genetics, University Medical Center Utrecht, Utrecht, The Netherlands.
  • Blokx WAM; Department of Pathology, Division of Laboratories, Pharmacy and Biomedical Genetics, University Medical Center Utrecht, Utrecht, The Netherlands.
Virchows Arch ; 479(1): 195-202, 2021 Jul.
Article en En | MEDLINE | ID: mdl-33040161
The molecular background of a significant proportion of spitzoid neoplasms is still unknown. Recently, activating mutations in MAP2K1 have been described in a few spitzoid lesions, but not in benign Spitz nevi. We report four cases of melanocytic tumors with spitzoid features in which a MAP2K1 mutation was detected. The lesions did not show a single distinct phenotype and ranged from benign to malignant. Two cases resembled desmoplastic Spitz nevi. Based on the combination of morphological, immunohistochemical, and molecular findings, one case was classified as benign, one as probably benign, possibly intermediate low-grade (MELTUMP-melanocytic tumor of unknown malignant potential), one case was classified as intermediate (MELTUMP), and one case was considered a superficial spreading melanoma with spitzoid features. Based on this, we conclude that MAP2K1 mutations can indicate a spitzoid genetic signature and can be found in both benign and malignant spitzoid neoplasms.
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Neoplasias Cutáneas / Biomarcadores de Tumor / Nevo de Células Epitelioides y Fusiformes / MAP Quinasa Quinasa 1 / Melanoma / Mutación Límite: Adolescent / Aged / Female / Humans / Male / Middle aged Idioma: En Revista: Virchows Arch Asunto de la revista: BIOLOGIA MOLECULAR / PATOLOGIA Año: 2021 Tipo del documento: Article País de afiliación: Países Bajos Pais de publicación: Alemania

Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Neoplasias Cutáneas / Biomarcadores de Tumor / Nevo de Células Epitelioides y Fusiformes / MAP Quinasa Quinasa 1 / Melanoma / Mutación Límite: Adolescent / Aged / Female / Humans / Male / Middle aged Idioma: En Revista: Virchows Arch Asunto de la revista: BIOLOGIA MOLECULAR / PATOLOGIA Año: 2021 Tipo del documento: Article País de afiliación: Países Bajos Pais de publicación: Alemania