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Titolo:
Association of alveolar rhabdomyosarcoma with the Beckwith-Wiedemann syndrome
Autore:
Smith, AC; Squire, JA; Thorner, P; Zielenska, M; Shuman, C; Grant, R; Chitayat, D; Nishikawa, JL; Weksberg, R;
Indirizzi:
Hosp Sick Children, Div Clin & Metab Genet, Res Inst, Toronto, ON M5G 1X8,Canada Hosp Sick Children Toronto ON Canada M5G 1X8 , Toronto, ON M5G 1X8,Canada Univ Toronto, Inst Med Sci, Toronto, ON M5S 1A8, Canada Univ Toronto Toronto ON Canada M5S 1A8 d Sci, Toronto, ON M5S 1A8, Canada Univ Toronto, Dept Lab Med & Pathobiol, Toronto, ON M5G 1L5, Canada Univ Toronto Toronto ON Canada M5G 1L5 obiol, Toronto, ON M5G 1L5, Canada Univ Toronto, Dept Med Biophys, Toronto, ON M5G 1L5, Canada Univ Toronto Toronto ON Canada M5G 1L5 ophys, Toronto, ON M5G 1L5, Canada Princess Margaret Hosp, Dept Pathol, Toronto, ON M5G 2M9, Canada Princess Margaret Hosp Toronto ON Canada M5G 2M9 onto, ON M5G 2M9, Canada Ontario Canc Inst, Toronto, ON M5G 2M9, Canada Ontario Canc Inst Toronto ON Canada M5G 2M9 , Toronto, ON M5G 2M9, Canada Hosp Sick Children, Dept Pediat Lab Med, Div Pathol, Toronto, ON M5G 1X8, Canada Hosp Sick Children Toronto ON Canada M5G 1X8 Toronto, ON M5G 1X8, Canada Hosp Sick Children, Dept Pediat & Med & Mol Genet, Toronto, ON M5G 1X8, Canada Hosp Sick Children Toronto ON Canada M5G 1X8 Toronto, ON M5G 1X8, Canada Hosp Sick Children, Dept Pediat, Div Hematol Oncol, Toronto, ON M5G 1X8, Canada Hosp Sick Children Toronto ON Canada M5G 1X8 Toronto, ON M5G 1X8, Canada
Titolo Testata:
PEDIATRIC AND DEVELOPMENTAL PATHOLOGY
fascicolo: 6, volume: 4, anno: 2001,
pagine: 550 - 558
SICI:
1093-5266(200111/12)4:6<550:AOARWT>2.0.ZU;2-5
Fonte:
ISI
Lingua:
ENG
Soggetto:
FACTOR-II GENE; WILMS-TUMOR; INTERGROUP RHABDOMYOSARCOMA; MOLECULAR CHARACTERIZATION; REGION; LOCUS; BWS; HETEROZYGOSITY; LOCALIZATION; EXPRESSION;
Keywords:
11p15; alveolar rhabdomyosarcoma; Beckwith-Wiedemann syndrome; cancer;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Clinical Medicine
Citazioni:
42
Recensione:
Indirizzi per estratti:
Indirizzo: Weksberg, R Hosp Sick Children, Div Clin & Metab Genet, Res Inst, 555 UnivAve, Toronto, ON M5G 1X8, Canada Hosp Sick Children 555 Univ Ave Toronto ON Canada M5G 1X8 nada
Citazione:
A.C. Smith et al., "Association of alveolar rhabdomyosarcoma with the Beckwith-Wiedemann syndrome", PEDIATR D P, 4(6), 2001, pp. 550-558

Abstract

Rhabdomyosarcoma (RMS) is a soft tissue tumor of childhood frequently diagnosed between the first and fifth year of life. Children with the Beckwith-Wiedemann syndrome (BWS), a congenital overgrowth syndrome characterized byexomphalos, macroglossia, and macrosomia, have an increased risk of developing childhood tumors including Wilms tumor, hepatoblastoma, neuroblastoma,and RMS. Although an association between RMS and the BWS is well accepted,only four cases have been reported to date, and of these, three were reported as embryonal RMS. Based on these data, an association between BWS and embryonal RMS has been proposed. We report three additional cases of BWS with RMS and review the clinical data for each patient as well as the pathology of their tumors. All three cases of BWS had histology consistent with alveolar RMS and were diagnosed at 6 weeks and 5 and 13 years of age. In two of these BWS cases, constitutional defects of 11p15 imprinting were demonstrated. Furthermore, cytogenetic analysis of the tumors did not detect the t(2;13) or t(1;13) translocations that generate the PAX3- or PAX7-FKHR fusionproteins common to alveolar RMS. These observations suggest that the development of alveolar RMS tumors in BWS may occur without the chromosomal rearrangement producing the PAX-FKHR fusion protein. In summary, we present three new cases of RMS demonstrating a new association between BWS and an uncommon subtype of alveolar RMS. The absence of the translocations commonly associated with alveolar rhabdomyosarcoma. suggests a common 11p15 pathway for alveolar RMS and BWS.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 07/04/20 alle ore 22:59:37