A unique case of adamantinoma-like Ewing sarcoma in the calcaneus, exhibiting prominent squamous differentiation and displaying EWSR1 gene rearrangement.
Adamantinoma
/ diagnostic imaging
Adolescent
Biomarkers, Tumor
/ genetics
Calcaneus
/ diagnostic imaging
Carcinoma, Squamous Cell
Cell Differentiation
Female
Gene Rearrangement
Homeobox Protein Nkx-2.2
Homeodomain Proteins
Humans
In Situ Hybridization, Fluorescence
Nuclear Proteins
RNA-Binding Protein EWS
/ genetics
Sarcoma, Ewing
/ diagnostic imaging
Transcription Factors
Adamantinoma-like Ewing sarcoma
Calcaneus
EWSR1 gene rearrangement
FISH technique
Rare bone tumors
Journal
Skeletal radiology
ISSN: 1432-2161
Titre abrégé: Skeletal Radiol
Pays: Germany
ID NLM: 7701953
Informations de publication
Date de publication:
Jan 2022
Jan 2022
Historique:
received:
21
04
2021
accepted:
23
05
2021
revised:
14
05
2021
pubmed:
11
6
2021
medline:
1
12
2021
entrez:
10
6
2021
Statut:
ppublish
Résumé
Adamantinoma-like Ewing sarcoma is uncommonly reported in the skeletal sites, including small bones of the feet.A 15-year-old girl presented with pain and swelling in her left foot, leading to difficulty in walking for 8 months. Plain radiograph revealed an ill-defined, lytic-sclerotic lesion without significant periosteal reaction in her left calcaneus. Magnetic resonance imaging (MRI) revealed an expansile lesion involving the anterior calcaneus, which was hypointense on T1 and heterogeneously hyperintense on T2-weighted sequences, infiltrating the adjacent bones and soft tissues. On imaging, the differential diagnoses considered were a giant cell tumor and other primary bone tumors.Histopathological examination revealed a tumor composed of small round cells, with interspersed keratin pearls. Immunohistochemically, the tumor cells were positive for CD99/MIC2, pan-cytokeratin (AE1/AE3), p40, p63, NKX2.2, and synaptophysin. Diagnosis of adamantinoma-like Ewing sarcoma was offered on the initial biopsy. Furthermore, the tumor cells revealed EWSR1 gene rearrangement by fluorescence in situ hybridization, confirming this diagnosis. The patient underwent neoadjuvant chemotherapy, had a poor response, and finally underwent below-knee amputation.This constitutes a rare case of adamantinoma-like Ewing sarcoma in the calcaneus. Ewing sarcoma may be considered as a differential diagnosis for intraosseous lytic-sclerotic lesions, even without significant periosteal reaction, at unusual sites, such as the bones of the foot. Awareness of this entity and application of ancillary techniques is recommended for its exact diagnosis and in differentiating this rare variant from its diagnostic mimics. This case also indicates a poor chemotherapy response in this unusual variant of Ewing sarcoma, occurring in the calcaneus.
Identifiants
pubmed: 34110448
doi: 10.1007/s00256-021-03831-7
pii: 10.1007/s00256-021-03831-7
doi:
Substances chimiques
Biomarkers, Tumor
0
EWSR1 protein, human
0
Homeobox Protein Nkx-2.2
0
Homeodomain Proteins
0
NKX2-2 protein, human
0
Nuclear Proteins
0
RNA-Binding Protein EWS
0
Transcription Factors
0
Types de publication
Case Reports
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Pagination
209-217Informations de copyright
© 2021. ISS.
Références
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