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Rhabdomyosarcoma with TFCP2 Rearrangement or Typical Co-expression of AE1/AE3 and ALK: Report of Three New Cases in the Head and Neck Region and Literature Review

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Abstract

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.

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Data Availability

The authors declare that all data supporting the findings of this study are available in the article.

Code Availability

Not applicable.

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Acknowledgements

We would like to thank “Getulio Sales Diagnósticos—Natal, Brazil” for helping with the molecular testing of our cases.

Funding

This study was not supported by any funding.

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Authors and Affiliations

  1. Oral Diagnosis Department, Semiology and Oral Pathology Areas, Piracicaba Dental School, University of Campinas (UNICAMP), Av. Limeira, 901, Areão, Piracicaba, São Paulo, 13414-903, Brazil

    Karen Patricia Domínguez Gallagher, Ana Luiza Oliveira Corrêa Roza, Elena María José Roman Tager, Bruno Augusto Linhares Almeida Mariz, Marcio Ajudarte Lopes, Pablo Agustin Vargas & Alan Roger Santos-Silva

  2. Oral Pathology, School of Dentistry, National University of Asunción, Asunción, Paraguay

    Karen Patricia Domínguez Gallagher

  3. Laboratório de Citopatologia, Division of Surgical Pathology, Private Pathology Service, Natal, Rio Grande do Norte, Brazil

    Ciro Dantas Soares

  4. Oral and Maxillofacial Surgery and Traumatology Service, Clinical Hospital, Medical School, University of São Paulo (FMUSP), São Paulo, São Paulo, Brazil

    André Caroli Rocha

  5. Department of Oral Diagnosis and Pathology, School of Dentistry, Federal University of Rio de Janeiro (UFRJ), Rio de Janeiro, Brazil

    Aline Corrêa Abrahão & Mário José Romañach

  6. Pathology Section, Centro Clínico de Cabeza y Cuello/Hospital Herrera Llerandi, Guatemala City, Guatemala

    Roman Carlos

  7. Liverpool Head and Neck Centre, Molecular and Clinical Cancer Medicine, University of Liverpool, Liverpool, UK

    Keith D. Hunter

Authors
  1. Karen Patricia Domínguez Gallagher
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  2. Ana Luiza Oliveira Corrêa Roza
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  9. Roman Carlos
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  13. Alan Roger Santos-Silva
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Contributions

All authors contributed substantially to the conception, draft, and design of these cases reported, as well as participation in the acquisition, analysis, and interpretation of data. All authors have contributed equally.

Corresponding author

Correspondence to Karen Patricia Domínguez Gallagher.

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Conflict of interest

The authors declare that they have no conflict of interest.

Ethical Approval

All procedures performed in studies involving human participants were in accordance with the ethical standards of the institution and/or national research committee and with the 1964 Helsinki declaration and its later amendments or comparable ethical standards. For this type of study formal consent is not required. The tumors tissues included in the manuscript were obtained as part of the standard of care for the patient and were retrospectively collected for publication.

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Informed consent was obtained from all individual participants included in the study.

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Consent for publication was obtained for every individual person’s data included in the study.

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Roman Carlos—Deceased on 5th November 2021.

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Gallagher, K.P.D., Roza, A.L.O.C., Tager, E.M.J.R. et al. Rhabdomyosarcoma with TFCP2 Rearrangement or Typical Co-expression of AE1/AE3 and ALK: Report of Three New Cases in the Head and Neck Region and Literature Review. Head and Neck Pathol 17, 546–561 (2023). https://doi.org/10.1007/s12105-022-01507-9

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