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Embryonal Rhabdomyosarcoma of the Ovary and Fallopian Tube: Rare Neoplasms Associated With Germline and Somatic DICER1 Mutations.

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Publication Date
2020-06
ICR Author
McVeigh, Terri
Author
McCluggage, WG
Apellaniz-Ruiz, M
Chong, A-L
Hanley, KZ
Velázquez Vega, JE
McVeigh, TP
Foulkes, WD
Type
Journal Article
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Abstract
DICER1 mutations (somatic or germline) are associated with a variety of uncommon neoplasms including cervical and genitourinary embryonal rhabdomyosarcoma (ERMS). We report a primary ovarian and 2 primary fallopian tube ERMS occurring in 60-, 13-, and 14-year-olds, respectively. The 3 neoplasms exhibited a similar morphologic appearance being polypoid and containing edematous hypocellular areas and hypercellular foci composed of small cells with scant cytoplasm exhibiting rhabdomyoblastic differentiation (desmin, myogenin, myoD1 positive). There was cellular cartilage in all cases and extensive foci of anaplasia, eosinophilic globules, and bone/osteoid in 1 case each. All 3 neoplasms exhibited DICER1 mutations; in 1 of the tubal cases, the patient had a germline mutation and in the other 2 cases, the DICER1 mutations were somatic. Accompanying DICER1 "second hits" were identified in all cases. In 2 of the neoplasms, SALL4-positive glandular structures were present which we speculate may represent an unusual primitive "metaplastic" phenomenon. Our study adds to the literature on ERMS at unusual sites associated with DICER1 mutations. ERMS arising at such sites, especially when they contain cartilage or bone/osteoid, are especially likely to be associated with DICER1 mutations. Pathologists should be aware of this as these may be the sentinel neoplasms in patients with DICER1 syndrome and confirming a germline mutation can facilitate the screening of the individual and affected family members for other neoplasms which occur in this syndrome.
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https://repository.icr.ac.uk/handle/internal/3751
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  • Other ICR Research
Licenseref URL
http://www.rioxx.net/licenses/all-rights-reserved
Version of record
10.1097/pas.0000000000001442
Subject
Humans
Rhabdomyosarcoma, Embryonal
Ovarian Neoplasms
Fallopian Tube Neoplasms
Neoplastic Syndromes, Hereditary
Ribonuclease III
Mutation
Adolescent
Middle Aged
Female
DEAD-box RNA Helicases
Language
eng
License start date
2020-06
Citation
The American journal of surgical pathology, 2020, 44 (6), pp. 738 - 747

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