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DICER1 syndrome and embryonal rhabdomyosarcoma of the cervix: a case report and literature review.
Stambouli, Alexandre; Cartault, Audrey; Petit, Isabelle Oliver; Evrard, Solene; Mery, Eliane; Savagner, Frederique; Trudel, Stephanie.
Affiliation
  • 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.
  • Trudel S; Inserm UMR 1297, Toulouse, France.
Front Pediatr ; 11: 1150418, 2023.
Article in En | MEDLINE | ID: mdl-37215607
ABSTRACT

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.
Key words

Full text: 1 Collection: 01-internacional Database: MEDLINE Type of study: Prognostic_studies Language: En Journal: Front Pediatr Year: 2023 Document type: Article Affiliation country: Francia

Full text: 1 Collection: 01-internacional Database: MEDLINE Type of study: Prognostic_studies Language: En Journal: Front Pediatr Year: 2023 Document type: Article Affiliation country: Francia