Mandibular rhabdomyosarcoma with TFCP2 rearrangement and osteogenic differentiation: a case misdiagnosed as fibrous dysplasia or low-grade central osteosarcoma.
Oral Surg Oral Med Oral Pathol Oral Radiol
; 137(6): e143-e149, 2024 06.
Article
in En
| MEDLINE
| ID: mdl-38637236
ABSTRACT
Rhabdomyosarcoma with TFCP2-related fusions (TFCP2-RMS) is a rare entity that commonly affects young adults with a predilection for skeletal involvement. We herein report a 40-year-old female patient with TFCP2-RMS who was misdiagnosed as fibrous dysplasia or low-grade central osteosarcoma of the mandible by referring institutions. Histologically, the tumor showed dominant spindle cells and focal epithelioid cells with marked immature woven bone formation. Immunophenotypically, in addition to the characteristic expression of myogenic markers, ALK, and cytokeratins, tumor cells also unusually expressed osteogenic markers, such as MDM2 and SATB2. Through fluorescence in situ hybridization, the tumor cells showed EWSR1TFCP2 gene fusion and no MDM2 gene amplification. This is a rare case of TFCP2-RMS, which was misdiagnosed as low-grade central osteosarcoma due to its presenting immunophenotype of MDM2 and SATB2, as well as extensive osteoid matrix formation.
Full text:
1
Collection:
01-internacional
Database:
MEDLINE
Main subject:
Rhabdomyosarcoma
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Transcription Factors
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Mandibular Neoplasms
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Osteosarcoma
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Diagnostic Errors
Limits:
Adult
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Female
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Humans
Language:
En
Journal:
Oral Surg Oral Med Oral Pathol Oral Radiol
Year:
2024
Document type:
Article
Affiliation country: