EWSR1-CREM fusion in pulmonary mesenchymal neoplasm showing distinctive clear cell morphology.
Biomarkers, Tumor
/ analysis
Cyclic AMP Response Element Modulator
/ genetics
Humans
Immunohistochemistry
In Situ Hybridization, Fluorescence
Lung Neoplasms
/ genetics
Male
Middle Aged
Oncogene Proteins, Fusion
/ genetics
RNA-Binding Protein EWS
/ genetics
Real-Time Polymerase Chain Reaction
Sequence Analysis, RNA
CREM
EWSR1
fusion gene
pulmonary tumor
Journal
Pathology international
ISSN: 1440-1827
Titre abrégé: Pathol Int
Pays: Australia
ID NLM: 9431380
Informations de publication
Date de publication:
Dec 2020
Dec 2020
Historique:
received:
05
08
2020
accepted:
15
09
2020
pubmed:
2
10
2020
medline:
30
9
2021
entrez:
1
10
2020
Statut:
ppublish
Résumé
EWSR1-CREM gene fusions were recently discovered in several mesenchymal and epithelial tumors, including myxoid mesenchymal tumors of the central nervous system, rare cases of soft tissue clear cell sarcoma and angiomatoid fibrous histiocytoma, and hyalinizing clear cell carcinoma, which implicates the potential phenotypic diversities of tumors harboring an EWSR1-CREM fusion. We herein present an exceedingly indolent pulmonary mesenchymal tumor showing distinctive clinicopathological features. This tumor histologically displayed a small nest and alveolar pattern consisting of monomorphic clear cells intermingled with dilated anastomosing vasculature. Immunophenotypically, tumor cells were positive for vimentin and focally positive for synaptophysin, but negative for many immunohistochemical panels including keratins, EMA, desmin, mesothelial markers, melanotic markers, smooth muscle actin, inhibin and S-100 protein. Interestingly, RNA sequencing identified an in-frame EWSR1-CREM fusion, which was confirmed by subsequent real-time/reverse transcription polymerase chain reaction and fluorescence in situ hybridization assay. Clinical follow-up showed no evidence of recurrence and metastasis. Our pathological findings further expand the phenotypic spectrum of tumors associated with EWSR1-CREM fusions, implying the emergence of a possible novel tumor entity.
Substances chimiques
Biomarkers, Tumor
0
CREM protein, human
0
EWSR1 protein, human
0
Oncogene Proteins, Fusion
0
RNA-Binding Protein EWS
0
Cyclic AMP Response Element Modulator
135844-64-3
Types de publication
Case Reports
Langues
eng
Sous-ensembles de citation
IM
Pagination
1020-1026Subventions
Organisme : JSPS Grant-in-Aid for Scientific Research (KAKENHI)
ID : 18K06989
Organisme : JSPS Grant-in-Aid for Scientific Research (KAKENHI)
ID : 18K16660
Informations de copyright
© 2020 Japanese Society of Pathology and John Wiley & Sons Australia, Ltd.
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