Primary thyroid rhabdomyosarcoma in an adult: a challenging case with histomolecular diagnosis and literature review

Author:

Alsugair Ziyad1,Calcagno Fabien2,Lifante Jean-Christophe1,Descotes Francoise3,Lopez Jonathan3,Zirganos Nikolaos2,Charon-Barra Céline4,Meurgey Alexandra5,Decaussin-Petrucci Myriam1

Affiliation:

1. Lyon Sud Hospital, Claude Bernard Lyon 1 University

2. University Hospital of Besançon

3. Centre Hospitalier Lyon Sud

4. Georges-François Leclerc Cancer Center

5. Centre Léon Bérard

Abstract

Abstract We report a case of primary thyroid rhabdomyosarcoma in a 61-year-old woman. Histologically, the neoplasm was composed of sheets of pleomorphic or spindle-shaped cells with eosinophilic cytoplasm and few large and very pleomorphic cells admixed with the spindle cell proliferation, without any thyroid epithelial component. Immunohistochemically, the tumour cells were positive for muscular markers and negative for epithelial and thyroid differentiation markers (AE1-AE3, EMA, CK5/6, TTF1, PAX8, thyroglobulin). Molecular tests revealed the presence of NF1, PTEN and TERT pathogenic mutations. Major morphological differential diagnoses include anaplastic thyroid carcinoma with rhabdoid phenotype, leiomyosarcoma, as well as other rare sarcomas. In this study, we describe the fifth case in the literature of primary thyroid rhabdomyosarcoma and the third in adults with, for the first time, an extensive molecular analysis.

Publisher

Research Square Platform LLC

Reference15 articles.

1. WHO Classification of Tumours Editorial Board. Endocrine and neuroendocrine tumours [Internet]. Lyon: International Agency for Research on Cancer; 2022 [cited 2022 Sep 19]. Available from: https://tumourclassification.iarc.who.int/chapters/36.

2. The current landscape of rhabdomyosarcomas: an update;Leiner J;Virchows Archiv,2020

3. Pediatric rhabdomyosarcoma of the head and neck;Kraus DH;Am J Surg,1997

4. Primary embryonal rhabdomyosarcoma of the anterior neck and thyroid;Dutta M;Laryngoscope,2013

5. Rhabdomyosarcoma presenting as an anterior neck mass and possible thyroid malignancy in a seven-month-old;Furze AD;Int J Pediatr Otorhinolaryngol,2005

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