Association of Alveolar Rhabdomyosarcoma with the Beckwith-Wiedemann Syndrome |
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| Authors: | Adam C Smith Jeremy A Squire Paul Thorner Maria Zielenska Cheryl Shuman Ronald Grant David Chitayat Joy L Nishikawa Rosanna Weksberg |
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| Institution: | (1) Institute of Medical Sciences, University of Toronto, Medical Sciences Building, 1 King's College Circle, Toronto, Ontario M5S 1A8, Canada, CA;(2) Research Institute, The Hospital for Sick Children, 555 University Avenue, Toronto, Ontario M5G 1X8, Canada, CA;(3) Departments of Laboratory Medicine and Pathobiology and Medical Biophysics, University of Toronto, 100 College Street, Toronto, Ontario M5G 1L5, Canada, CA;(4) Department of Pathology, Princess Margaret Hospital and Ontario Cancer Institute, 610 University Avenue, Toronto, Ontario M5G 2M9, Canada, CA;(5) Department of Pediatric Laboratory Medicine, Division of Pathology, The Hospital for Sick Children, 555 University Avenue, Toronto, Ontario M5G 1X8, Canada, CA;(6) Department of Laboratory Medicine and Pathobiology, University of Toronto, 100 College Street, Toronto, Ontario M5G 1L5, Canada, CA;(7) Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, 555 University Avenue, Toronto, Ontario M5G 1X8, Canada, CA;(8) Department of Pediatrics and Medical and Molecular Genetics, The University of Toronto, Medical Sciences Building, 1 King's College Circle, Toronto, Ontario M5S 1A8, Canada, CA;(9) Department of Pediatrics, Division of Hematology Oncology, Hospital for Sick Children and University of Toronto, 555 University Avenue, Toronto, Ontario M5G 1X8, Canada, CA |
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| 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 by exomphalos, 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 fusion proteins
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.
Received May 25, 2001; accepted July 11, 2001. |
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| Keywords: | : 11p15 alveolar rhabdomyosarcoma Beckwith-Wiedemann syndrome cancer |
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