<i>TP53</i> germline pathogenic variant frequency in anaplastic rhabdomyosarcoma: A Children's Oncology Group report-Reference-Cited by-同舟云学术

TP53 germline pathogenic variant frequency in anaplastic rhabdomyosarcoma: A Children's Oncology Group report

Published:2023-05-17 Issue:9 Volume:70 Page:
ISSN:1545-5009
Container-title:Pediatric Blood & Cancer
language:en
Short-container-title:Pediatric Blood & Cancer

Author:

Fair Douglas¹^ORCID,Maese Luke¹²^ORCID,Chi Yueh‐Yun³,Li Minjie⁴,Hawkins Douglas S.⁵^ORCID,Venkatramani Rajkumar⁶,Rudzinski Erin⁷^ORCID,Parham David⁸,Teot Lisa⁹,Malkin David¹⁰,Plon Sharon E.⁶¹¹¹²,Li He¹²,Sabo Aniko¹²,Lupo Philip J.⁶¹¹,Schiffman Joshua D.¹²

Affiliation:

1. Department of Pediatrics Division of Hematology/Oncology University of Utah Primary Children's Hospital Huntsman Cancer Institute Salt Lake City Utah USA

2. Family Cancer Assessment Clinic Huntsman Cancer Institute University of Utah Salt Lake City Utah USA

3. Department of Pediatrics University of Southern California Los Angeles California USA

4. Statistics and Data Center, Children's Oncology Group Gainesville Florida USA

5. Seattle Children's Hospital Fred Hutchinson Cancer Research Center University of Washington Seattle Washington USA

6. Department of Pediatrics Division of Hematology/Oncology Texas Children's Cancer Center Texas Children's Hospital Baylor College of Medicine Houston Texas USA

7. Department of Laboratories Seattle Children's Hospital Seattle Washington USA

8. Department of Pathology and Laboratory Medicine Children's Hospital Los Angeles and Keck School of Medicine University of Southern California Los Angeles California USA

9. Department of Pathology Boston Children's Hospital Boston Massachusetts USA

10. Department of Pediatrics Division of Hematology/Oncology The Hospital for Sick Children University of Toronto Toronto Ontario Canada

11. Department of Pediatrics Division of Hematology/Oncology Baylor College of Medicine Houston Texas USA

12. Human Genome Sequencing Center Baylor College of Medicine Houston Texas USA

Abstract

AbstractRhabdomyosarcoma (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.

Funder

St. Baldrick's Foundation

Publisher

Wiley

Subject

Oncology,Hematology,Pediatrics, Perinatology and Child Health

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/pbc.30413

Reference13 articles.

1. Rhabdomyosarcoma in children: epidemiologic study and identification of a familial cancer syndrome;Li FP;J Natl Cancer Inst,1969

2. Germ Line p53 Mutations in a Familial Syndrome of Breast Cancer, Sarcomas, and Other Neoplasms

3. Anaplastic rhabdomyosarcoma inTP53germline mutation carriers

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