DICER1-mutated rhabdomyosarcoma of the ovary with teratoid features.
DEAD-box RNA helicases
DICER1 associated sarcoma
DICER1 syndrome
embryonal rhabdomyosarcoma
Journal
Genes, chromosomes & cancer
ISSN: 1098-2264
Titre abrégé: Genes Chromosomes Cancer
Pays: United States
ID NLM: 9007329
Informations de publication
Date de publication:
12 2023
12 2023
Historique:
revised:
24
08
2023
received:
30
03
2023
accepted:
28
08
2023
medline:
23
10
2023
pubmed:
14
9
2023
entrez:
14
9
2023
Statut:
ppublish
Résumé
DICER1-mutated rhabdomyosarcoma is a rare, emerging entity with a predilection for the gynecologic and genitourinary tracts. We report here a case of DICER1-mutated rhabdomyosarcoma of the ovary in a 14 years old girl which displayed interspersed mature teratoid glands, neuroectodermal rosettes and immature blastematous-like tubes. Morphologically the sarcomatous component predominated, corresponding to a high grade spindle cell rhabdomyosarcoma with botryoid features. Islets of cartilage were present. The sarcomatous proliferation encased the teratoid glands, forming cambium layer-like arrangements. The sarcoma cells were Myogenin and MYOD1 positive, the neuroectodermal rosettes expressed SALL4 along with cytokeratins and EMA and were negative for Inhibin; immature blastematous-like tubes were negative for SALL4 and Inhibin. Whole RNA- and targeted DNA-sequencing revealed two DICER1 mutations in exon 26: c.5113G>A: p.(Glu1705Lys) and exon 12: c.1642C>T: p.(Gln548X). The sarcomatous component harbored a complex genetic profile while the teratoid component was diploid, none of the above displayed abnormality of 12p. DICER1-mutated sarcomas display pathological features similar to embryonal rhabdomyosarcomas, botryoid type. They also display heterogeneous features combining cartilage foci, teratoid mature glands, immature blastematous-like tubes and/or neuroectodermal components. Molecular testing remains necessary to confirm the diagnosis. Further studies need to clarify the nosology of DICER1-mutated sarcomas and devise specific therapeutic strategies.
Substances chimiques
DEAD-box RNA Helicases
EC 3.6.4.13
DICER1 protein, human
EC 3.1.26.3
Inhibins
57285-09-3
Ribonuclease III
EC 3.1.26.3
Types de publication
Case Reports
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Pagination
746-754Informations de copyright
© 2023 The Authors. Genes, Chromosomes and Cancer published by Wiley Periodicals LLC.
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