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Tytuł pozycji:

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

Tytuł :
Embryonal Rhabdomyosarcoma of the Ovary and Fallopian Tube: Rare Neoplasms Associated With Germline and Somatic DICER1 Mutations.
Autorzy :
McCluggage WG; Department of Pathology, Belfast Health and Social Care Trust, Belfast, Northern Ireland.
Apellaniz-Ruiz M; Department of Human Genetics, McGill University.; Cancer Axis, Lady Davis Institute, Jewish General Hospital, Montréal, QC, Canada.
Chong AL; Department of Human Genetics, McGill University.; Cancer Axis, Lady Davis Institute, Jewish General Hospital, Montréal, QC, Canada.
Hanley KZ; Department of Pathology, and Laboratory Medicine, Emory University Hospital.
Velázquez Vega JE; Department of Pathology and Laboratory Medicine, Children's Healthcare of Atlanta and Emory University, Atlanta, GA.
McVeigh TP; Cancer Genetics Unit, Royal Marsden NHS Foundation Trust, London, United Kingdom.
Foulkes WD; Department of Human Genetics, McGill University.; Cancer Axis, Lady Davis Institute, Jewish General Hospital, Montréal, QC, Canada.
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Źródło :
The American journal of surgical pathology [Am J Surg Pathol] 2020 Jun; Vol. 44 (6), pp. 738-747.
Typ publikacji :
Case Reports; Journal Article
Język :
English
Imprint Name(s) :
Publication: <2015- > : Philadelphia, PA : Wolters Kluwer Health, Inc.
Original Publication: New York, Masson.
MeSH Terms :
DEAD-box RNA Helicases/*genetics
Fallopian Tube Neoplasms/*genetics
Neoplastic Syndromes, Hereditary/*genetics
Ovarian Neoplasms/*genetics
Rhabdomyosarcoma, Embryonal/*genetics
Ribonuclease III/*genetics
Adolescent ; Fallopian Tube Neoplasms/pathology ; Female ; Humans ; Middle Aged ; Mutation ; Ovarian Neoplasms/pathology ; Rhabdomyosarcoma, Embryonal/pathology
Substance Nomenclature :
EC 3.1.26.3 (DICER1 protein, human)
EC 3.1.26.3 (Ribonuclease III)
EC 3.6.4.13 (DEAD-box RNA Helicases)
Entry Date(s) :
Date Created: 20200129 Date Completed: 20201014 Latest Revision: 20201014
Update Code :
20201023
DOI :
10.1097/PAS.0000000000001442
PMID :
31990691
Czasopismo naukowe
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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