Spindle cell tumor with CD34 and S100 co-expression and distinctive stromal and perivascular hyalinization showing EML4-ALK fusion.
Antigens, CD34
/ metabolism
Blood Vessels
/ metabolism
Diagnosis, Differential
Female
High-Throughput Nucleotide Sequencing
/ methods
Humans
Hyalin
/ metabolism
Immunohistochemistry
/ methods
Oncogene Proteins, Fusion
S100 Proteins
/ metabolism
Sequence Analysis, RNA
/ methods
Soft Tissue Neoplasms
/ diagnosis
Stromal Cells
/ metabolism
Treatment Refusal
Young Adult
CD34 and S100 co-expression
EML4-ALK
next-generation sequencing
soft tissue tumor
spindle cell tumor
Journal
Journal of cutaneous pathology
ISSN: 1600-0560
Titre abrégé: J Cutan Pathol
Pays: United States
ID NLM: 0425124
Informations de publication
Date de publication:
Jul 2021
Jul 2021
Historique:
revised:
11
11
2020
received:
22
09
2020
accepted:
13
11
2020
pubmed:
27
11
2020
medline:
27
11
2021
entrez:
26
11
2020
Statut:
ppublish
Résumé
Recently, a novel group of CD34+ and S100+ spindle cell tumors with distinctive stromal and perivascular hyalinization showing recurrent gene fusions involving RAF1, BRAF, NTRK1/2/3, and RET has been identified. ALK rearrangements have been rarely reported in this group of tumors. We report a 24-year-old woman with a 1.5-cm pink mass of the scalp. The tumor was made of spindle cells organized in fascicles or haphazardly arranged in a patternless architecture, with areas of stromal and perivascular hyalinization. The tumor cells diffusely expressed CD34 and S100, without SOX-10 expression. The tumor showed diffuse immunopositivity for ALK. RNA sequencing using next-generation sequencing (NGS) detected an EML4-ALK fusion. This case extends the spectrum of this newly described group of CD34+/S100+ spindle cell tumors at the molecular-genetic level. Dermatopathologists should be aware of this recent entity, as it may fall in the differential diagnosis of many other spindle cell tumors with CD34 expression. NGS-based techniques should be performed when facing spindle cell tumors with similar morphology and immunophenotype. Identification of kinase fusions is essential for the precise classification and better knowledge of these tumors, and for targeted therapy in rare aggressive cases.
Substances chimiques
Antigens, CD34
0
EML4-ALK fusion protein, human
0
Oncogene Proteins, Fusion
0
S100 Proteins
0
Types de publication
Case Reports
Langues
eng
Sous-ensembles de citation
IM
Pagination
896-901Informations de copyright
© 2020 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.
Références
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