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Published on: September 13, 2019
Rhabdomyosarcoma with TFCP2 Rearrangement or Typical Co-expression of AE1/AE3 and ALK: Report of Three New Cases in
Karen Patricia Domínguez Gallagher1,2, Ana Luiza Oliveira Corrêa Roza3, Elena María José Roman Tager3
1Oral Diagnosis Department, Semiology and Oral Pathology Areas, Piracicaba Dental School, University of Campinas (UNICAMP), Av. Limeira, 901, Areão, Piracicaba, São Paulo, 13414-903, Brazil. karendg89@gmail.com.
Background:
Rhabdomyosarcoma (RMS) harboring EWSR1/FUS-TFCP2 fusions has been recently described as a distinct form of RMS with an aggressive course and predilection for the craniofacial bones, especially the jaws.
Methods:
We report three new cases of this rare entity, two from Brazil and one from Guatemala, with detailed clinicopathologic, immunohistochemical, and molecular descriptions. Additionally, we explored the English-language literature searching RMS with TFCP2 rearrangement or typical immunophenotype with co-expression of AE1/AE3 and ALK in the head and neck region.
Results:
Case 1 is a 58-year-old male with a 3-month history of painful swelling in the anterior maxilla. Case 2 is a 22-year-old male presenting with right facial swelling and proptosis. Case 3 is a 43-year-old female with a rapidly growing tumor located in the zygomatic region. Imaging examinations revealed highly destructive intraosseous masses in the first two cases, and a soft tissue tumor with bone invasion in case 3. Microscopically, all cases showed a hybrid spindle and epithelioid phenotype of tumor cells which expressed desmin, myogenin and/or Myo-D1, AE1/AE3, and ALK. FISH confirmed molecular alterations related to TFCP2 rearrangement in Cases 1-2. In case 3, there was no available material for molecular analysis. The patients were subsequently referred to oncologic treatment. Additionally, we summarized the clinicopathologic, immunohistochemical, and molecular features of 27 cases of this rare RMS variant in the head and neck region reported in the English-language literature.
Conclusion:
RMS with TFCP2 rearrangement is a rare and aggressive tumor with a particular predilection for craniofacial bones, especially the jaws. Knowing its clinicopathologic and immunohistochemical profile can avoid misdiagnosis.
Insights
Rhabdomyosarcoma with TFCP2 rearrangement is a rare, aggressive cancer primarily affecting head and neck bones. Understanding its features aids in accurate diagnosis and treatment of this challenging disease.
Area of Science:
- Oncology
- Pathology
- Genetics
Background:
- Rhabdomyosarcoma (RMS) with EWSR1/FUS-TFCP2 fusions is a recently identified, aggressive subtype.
- This RMS variant shows a predilection for craniofacial bones, particularly the jaws.
Approach:
- Detailed clinicopathologic, immunohistochemical, and molecular analysis of three new cases from Brazil and Guatemala.
- Comprehensive review of English-language literature for RMS with TFCP2 rearrangement or specific immunophenotype (AE1/AE3, ALK) in the head and neck.
Key Points:
- Three cases presented with destructive intraosseous or soft tissue tumors in the maxilla, face, and zygomatic region.
- Tumor cells exhibited a hybrid spindle and epithelioid phenotype, expressing desmin, myogenin/Myo-D1, AE1/AE3, and ALK.
- TFCP2 rearrangement confirmed by FISH in two cases; literature review encompassed 27 additional head and neck cases.
Conclusions:
- RMS with TFCP2 rearrangement is a rare, aggressive tumor with a strong predilection for craniofacial bones.
- Recognizing the clinicopathologic and immunohistochemical profile is crucial to prevent misdiagnosis of this RMS subtype.
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