Immunohistochemical expression of melanocytic and myofibroblastic markers and their molecular correlation in atypical fibroxanthomas and pleomorphic dermal sarcomas

Background Atypical fibroxanthomas (AFXs) and pleomorphic dermal sarcomas (PDSs) are UV‐induced pleomorphic skin tumors with a non‐specific immunoprofile. For that reason, exclusion of other dedifferentiated tumor entities by immunohistochemistry is still mandatory to avoid misdiagnosis. Methods We...

Full description

Saved in:
Bibliographic Details
Published in:Journal of cutaneous pathology 2018-12, Vol.45 (12), p.880-885
Main Authors: Helbig, Doris, Mauch, Cornelia, Buettner, Reinhard, Quaas, Alexander
Format: Article
Language:English
Subjects:
Aged
Aged, 80 and over
atypical fibroxanthoma (AFX)
Biomarkers, Tumor - biosynthesis
Biomarkers, Tumor - genetics
caldesmon
Calponin
Dendritic cells
Desmin
Female
Giant cells
Humans
Immunohistochemistry
Male
Microphthalmia-associated transcription factor
Middle Aged
MiTF
Mutation
Myogenin
Neoplasm Proteins - biosynthesis
Neoplasm Proteins - genetics
p53 Protein
pleomorphic dermal sarcoma (PDS)
Sarcoma - genetics
Sarcoma - metabolism
Sarcoma - pathology
Skin
Skin Neoplasms - pathology
Sox10 protein
Tumors
Ultraviolet Rays - adverse effects
Xanthomatosis - genetics
Xanthomatosis - metabolism
Xanthomatosis - pathology
Citations: Items that this one cites
Items that cite this one
Online Access:Get full text
Tags: Add Tag
No Tags, Be the first to tag this record!
Description
Summary:Background Atypical fibroxanthomas (AFXs) and pleomorphic dermal sarcomas (PDSs) are UV‐induced pleomorphic skin tumors with a non‐specific immunoprofile. For that reason, exclusion of other dedifferentiated tumor entities by immunohistochemistry is still mandatory to avoid misdiagnosis. Methods We determined the expression frequency of several melanocytic and myofibroblastic markers investigating 50 AFXs and PDSs.. Next‐generation‐sequencing (NGS) was performed in microphthalmia‐associated transcription factor (MiTF)‐expressing cases. Results We identified one MiTF‐expressing AFX and PDS, and two PDSs harboring single S100‐positive dendritic cells whereas Melan A, HMB45, and SOX10 were negative. Calponin was moderately expressed by tumor giant cells in one PDS whereas h‐caldesmon, desmin, and myogenin were not expressed in any of the AFXs or PDSs. The MiTF‐positive AFX presented CDKN2A, OXA1L, and PDGFRA mutations whereas the PDS harbored a typical TP53 mutation. Both patients have not shown any tumor progression over the last 16 and 30 months. Conclusion Rarely, AFX and PDS express the melanocytic marker MiTF and/or the myofibroblastic marker calponin. In doubtful cases, using a panel of immunohistochemical markers helps to avoid misdiagnosis.
ISSN:0303-6987
1600-0560
DOI:10.1111/cup.13346