Identification of a novel translocation producing an in-frame fusion of TAF15 and ETV4 in a case of extraosseous Ewing sarcoma revealed in the prenatal period.
Gene Fusion
Humans
Infant, Newborn
Oncogene Proteins, Fusion
/ genetics
Proto-Oncogene Proteins c-ets
/ genetics
RNA
RNA-Binding Protein EWS
/ genetics
Sarcoma
/ genetics
Sarcoma, Ewing
/ diagnosis
Soft Tissue Neoplasms
/ pathology
TATA-Binding Protein Associated Factors
/ genetics
Translocation, Genetic
ETV4
Ewing sarcoma
Pediatric
TAF15
TAF15::ETV4
URSC
Journal
Virchows Archiv : an international journal of pathology
ISSN: 1432-2307
Titre abrégé: Virchows Arch
Pays: Germany
ID NLM: 9423843
Informations de publication
Date de publication:
Oct 2022
Oct 2022
Historique:
received:
15
03
2022
accepted:
03
05
2022
revised:
29
04
2022
pubmed:
9
5
2022
medline:
12
10
2022
entrez:
8
5
2022
Statut:
ppublish
Résumé
Ewing sarcoma (ES) is a highly malignant round cell sarcoma, characterized by gene fusion involving FET (FUS, EWSR1, TAF15) and ETS family genes, respectively. The involvement of the EWSR1 gene has been reported in approximately 90% of cases of ES, with the EWSR1::FLI1 fusion being the most frequent. We report the case of a newborn with a localized soft tissue paravertebral neoplasm diagnosed prenatally. Histopathology and immunophenotype were consistent with a CD99 + , NKX2.2 + undifferentiated round cell sarcoma (URSC); whole-exome RNA-sequencing demonstrated an undescribed in-frame TAF15::ETV4 fusion transcript, while consensus clustering analysis showed high transcriptomic proximity to the ES group. Given clinical context, high tumor chemosensitivity to ES conventional drugs, morphological characteristics, nature of the fusion partners involved, and high transcriptomic proximity to bona fide ESs, this case may represent a new genetic variant of ES.
Identifiants
pubmed: 35527322
doi: 10.1007/s00428-022-03335-2
pii: 10.1007/s00428-022-03335-2
doi:
Substances chimiques
ETV4 protein, human
0
Oncogene Proteins, Fusion
0
Proto-Oncogene Proteins c-ets
0
RNA-Binding Protein EWS
0
TAF15 protein, human
0
TATA-Binding Protein Associated Factors
0
RNA
63231-63-0
Types de publication
Case Reports
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Pagination
665-669Informations de copyright
© 2022. The Author(s), under exclusive licence to Springer-Verlag GmbH Germany, part of Springer Nature.
Références
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