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Expanding spectrum of "spitzoid" lesions: a small series of 4 cases with MAP2K1 mutations.
- Source :
-
Virchows Archiv : an international journal of pathology [Virchows Arch] 2021 Jul; Vol. 479 (1), pp. 195-202. Date of Electronic Publication: 2020 Oct 11. - Publication Year :
- 2021
-
Abstract
- 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.<br /> (© 2020. The Author(s).)
- Subjects :
- Adolescent
Aged
Female
Genetic Predisposition to Disease
Humans
Male
Melanoma enzymology
Melanoma pathology
Middle Aged
Nevus, Epithelioid and Spindle Cell enzymology
Nevus, Epithelioid and Spindle Cell pathology
Phenotype
Skin Neoplasms enzymology
Skin Neoplasms pathology
Biomarkers, Tumor genetics
MAP Kinase Kinase 1 genetics
Melanoma genetics
Mutation
Nevus, Epithelioid and Spindle Cell genetics
Skin Neoplasms genetics
Subjects
Details
- Language :
- English
- ISSN :
- 1432-2307
- Volume :
- 479
- Issue :
- 1
- Database :
- MEDLINE
- Journal :
- Virchows Archiv : an international journal of pathology
- Publication Type :
- Academic Journal
- Accession number :
- 33040161
- Full Text :
- https://doi.org/10.1007/s00428-020-02940-3