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TP53 germline pathogenic variant frequency in anaplastic rhabdomyosarcoma: A Children's Oncology Group report.
Fair, Douglas; Maese, Luke; Chi, Yueh-Yun; Li, Minjie; Hawkins, Douglas S; Venkatramani, Rajkumar; Rudzinski, Erin; Parham, David; Teot, Lisa; Malkin, David; Plon, Sharon E; Li, He; Sabo, Aniko; Lupo, Philip J; Schiffman, Joshua D.
Afiliação
  • Fair D; Department of Pediatrics, Division of Hematology/Oncology, University of Utah, Primary Children's Hospital, Huntsman Cancer Institute, Salt Lake City, Utah, USA.
  • Maese L; Department of Pediatrics, Division of Hematology/Oncology, University of Utah, Primary Children's Hospital, Huntsman Cancer Institute, Salt Lake City, Utah, USA.
  • Chi YY; Family Cancer Assessment Clinic, Huntsman Cancer Institute, University of Utah, Salt Lake City, Utah, USA.
  • Li M; Department of Pediatrics, University of Southern California, Los Angeles, California, USA.
  • Hawkins DS; Statistics and Data Center, Children's Oncology Group, Gainesville, Florida, USA.
  • Venkatramani R; Seattle Children's Hospital, Fred Hutchinson Cancer Research Center, University of Washington, Seattle, Washington, USA.
  • Rudzinski E; Department of Pediatrics, Division of Hematology/Oncology, Texas Children's Cancer Center, Texas Children's Hospital, Baylor College of Medicine, Houston, Texas, USA.
  • Parham D; Department of Laboratories, Seattle Children's Hospital, Seattle, Washington, USA.
  • Teot L; Department of Pathology and Laboratory Medicine, Children's Hospital Los Angeles and Keck School of Medicine, University of Southern California, Los Angeles, California, USA.
  • Malkin D; Department of Pathology, Boston Children's Hospital, Boston, Massachusetts, USA.
  • Plon SE; Department of Pediatrics, Division of Hematology/Oncology, The Hospital for Sick Children, University of Toronto, Toronto, Ontario, Canada.
  • Li H; Department of Pediatrics, Division of Hematology/Oncology, Texas Children's Cancer Center, Texas Children's Hospital, Baylor College of Medicine, Houston, Texas, USA.
  • Sabo A; Department of Pediatrics, Division of Hematology/Oncology, Baylor College of Medicine, Houston, Texas, USA.
  • Lupo PJ; Human Genome Sequencing Center, Baylor College of Medicine, Houston, Texas, USA.
  • Schiffman JD; Human Genome Sequencing Center, Baylor College of Medicine, Houston, Texas, USA.
Pediatr Blood Cancer ; : e30413, 2023 May 17.
Article em En | MEDLINE | ID: mdl-37194615
Rhabdomyosarcoma (RMS) is a well-described cancer in Li-Fraumeni syndrome, resulting from germline TP53 pathogenic variants (PVs). RMS exhibiting anaplasia (anRMS) are associated with a high rate of germline TP53 PVs. This study provides updated estimates of the prevalence of TP53 germline PVs in RMS (3%) and anRMS (11%) from a large cohort (n = 239) enrolled in five Children's Oncology Group (COG) clinical trials. Although the prevalence of germline TP53 PVs in patients with anRMS in this series is much lower than previously reported, this prevalence remains elevated. Germline evaluation for TP53 PVs should be strongly considered in patients with anRMS.
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Tipo de estudo: Risk_factors_studies Idioma: En Revista: Pediatr Blood Cancer Assunto da revista: HEMATOLOGIA / NEOPLASIAS / PEDIATRIA Ano de publicação: 2023 Tipo de documento: Article País de afiliação: Estados Unidos
Texto completo
Imprimir
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PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Tipo de estudo: Risk_factors_studies Idioma: En Revista: Pediatr Blood Cancer Assunto da revista: HEMATOLOGIA / NEOPLASIAS / PEDIATRIA Ano de publicação: 2023 Tipo de documento: Article País de afiliação: Estados Unidos