DICER1 syndrome and embryonal rhabdomyosarcoma of the cervix: a case report and literature review.

Autor:	Stambouli A; Molecular Biology Department, Federative Institute of Biology, Toulouse, France., Cartault A; Endocrinology Department, Children's Hospital of Toulouse, Toulouse, France., Petit IO; Endocrinology Department, Children's Hospital of Toulouse, Toulouse, France., Evrard S; Pathology Department, IUCT, Institut Claudius Regaud, Toulouse, France., Mery E; Pathology Department, IUCT, Institut Claudius Regaud, Toulouse, France., Savagner F; Molecular Biology Department, Federative Institute of Biology, Toulouse, France.; Inserm UMR 1297, Toulouse, France., Trudel S; Molecular Biology Department, Federative Institute of Biology, Toulouse, France.; Inserm UMR 1291, CHU Purpan-BP, Toulouse, France.
Jazyk:	angličtina
Zdroj:	Frontiers in pediatrics [Front Pediatr] 2023 May 05; Vol. 11, pp. 1150418. Date of Electronic Publication: 2023 May 05 (Print Publication: 2023).
DOI:	10.3389/fped.2023.1150418
Abstrakt:	Background: Embryonal rhabdomyosarcomas (ERMS) of the uterine cervix and corpus are rare pediatric tumors usually associated with a late age of onset and frequent somatic DICER1 mutation. It may also develop in the context of a familial predisposition such as DICER1 syndrome requiring specific medical care for children and young adults at risk for a broad range of tumors. Case Presentation: This is a case of a prepubescent 9-year-old girl who was presented to our department for metrorrhagias due to a vaginal cervical mass, initially classified as a müllerian endocervical polyp on negative myogenin immunostaining. The patient subsequently manifested growth retardation (-2DS) and learning disabilities leading to genetic explorations and the identification of a germline pathogenic DICER1 variant. The family history revealed thyroid diseases in the father, aunt and paternal grandmother before the age of 20. Conclusion: Rare tumors such as cervical ERMS associated with a family history of thyroid disease during infancy could be related to DICER1 syndrome. Identifying at-risk relatives is challenging but necessary to detect early DICER1 spectrum tumors in young patients. Competing Interests: The authors declare that the research was conducted in the absence of any commercial or financial relationships that could be construed as a potential conflict of interest. (© 2023 Stambouli, Cartault, Petit, Evrard, Mery, Savagner and Trudel.)
Databáze:	MEDLINE
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