Extending the phenotypes associated with DICER1 mutations
| Autor: | Archana Srivastava, Nelly Sabbaghian, Marc Tischkowitz, Sofia Asioli, Nancy Hamel, Dorothée Bouron-Dal Soglio, Amin Bahubeshi, Gareth Baynam, Nicole Graf, Robert H. Young, Megan K. Dishop, Jocelyne Arseneau, John R. Priest, William D. Foulkes, Mesiha Ekim, Catherine S. Choong, Barbara Pasini, Adrian Charles, Richard Frieder |
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| Přispěvatelé: | Foulkes WD, Bahubeshi A, Hamel N, Pasini B, Asioli S, Baynam G, Choong CS, Charles A, Frieder RP, Dishop MK, Graf N, Ekim M, Bouron-Dal Soglio D, Arseneau J, Young RH, Sabbaghian N, Srivastava A, Tischkowitz MD, Priest JR |
| Jazyk: | angličtina |
| Rok vydání: | 2011 |
| Předmět: |
Adult
Male Ribonuclease III Pathology medicine.medical_specialty sarcoma Adolescent Uterine Cervical Neoplasms Pleuropulmonary blastoma DICER1 Biology DEAD-box RNA Helicases Neoplastic Syndromes Hereditary Genetics medicine Humans Neuroectodermal Tumors Primitive Family Rhabdomyosarcoma Embryonal Bronchopulmonary Sequestration congenital cardiac defects Rhabdomyosarcoma Child Genetics (clinical) DICER1 Syndrome cPNET Intestinal Polyposis Cystic nephroma Wilms tumor Wilms' tumor Anatomy medicine.disease Phenotype Primitive neuroectodermal tumor Child Preschool Mutation Female Sarcoma Embryonal rhabdomyosarcoma |
| Popis: | DICER1 is crucial for embryogenesis and early development. Forty different heterozygous germline DICER1 mutations have been reported worldwide in 42 probands that developed as children or young adults, pleuropulmonary blastoma (PPB), cystic nephroma (CN), ovarian sex cord-stromal tumors (especially Sertoli-Leydig cell tumor [SLCT]), and/or multinodular goiter (MNG). We report DICER1 mutations in seven additional families that manifested uterine cervix embryonal rhabdomyosarcoma (cERMS, four cases) and primitive neuroectodermal tumor (cPNET, one case), Wilms tumor (WT, three cases), pulmonary sequestration (PS, one case), and juvenile intestinal polyp (one case). One carrier developed (age 25 years) a pleomorphic sarcoma of the thigh; another carrier had transposition of great arteries (TGA). These observations show that cERMS, cPNET, WT, PS, and juvenile polyps fall within the spectrum of DICER1-related diseases. DICER1 appears to be the first gene implicated in the etiology of cERMS, cPNET, and PS. Young adulthood sarcomas and perhaps congenital malformations such as TGA may also be associated. |
| Databáze: | OpenAIRE |
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