loading page

TP53 Germline Pathogenic Variant Frequency in Anaplastic Rhabdomyosarcoma: A Children’s Oncology Group Report
  • +12
  • Douglas Fair,
  • Luke Maese,
  • Yueh-Yun Chi,
  • Minjie Li,
  • Douglas Hawkins,
  • Rajkumar Venkatramani,
  • Erin Rudzinski,
  • David Parham,
  • Lisa Teot,
  • David Malkin,
  • Sharon Plon,
  • He Li,
  • Aniko Sabo,
  • Philip Lupo,
  • Joshua Schiffman
Douglas Fair
University of Utah

Corresponding Author:[email protected]

Author Profile
Luke Maese
Huntsman Cancer Institute, University of Utah
Author Profile
Yueh-Yun Chi
Children’s Hospital Los Angeles
Author Profile
Minjie Li
University of Florida
Author Profile
Douglas Hawkins
Seattle Children's Hospital
Author Profile
Rajkumar Venkatramani
Texas Children's Hospital
Author Profile
Erin Rudzinski
Seattle Children's Hospital/University of Washington
Author Profile
David Parham
Children’s Hospital Los Angeles
Author Profile
Lisa Teot
Children's Hospital Boston
Author Profile
David Malkin
The Hospital for Sick Children
Author Profile
Sharon Plon
Texas Children's Hospital
Author Profile
He Li
Baylor College of Medicine
Author Profile
Aniko Sabo
Baylor College of Medicine
Author Profile
Philip Lupo
Baylor College of Medicine
Author Profile
Joshua Schiffman
University of Utah
Author Profile

Abstract

Rhabdomyosarcoma (RMS) is a well-described cancer in Li-Fraumeni Syndrome (LFS), resulting from germline TP53 pathogenic variants (PVs). RMS exhibiting anaplasia (anRMS) have been associated with a high rate of germline TP53 PVs. This study provides an updated estimate of the prevalence of TP53 germline PVs from a large cohort of patients (n=239) enrolled in five Children’s Oncology Group (COG) clinical trials. Although the prevalence of germline TP53 PVs in anRMS patients in this series is much lower than previously reported, this prevalence remains significantly elevated. Germline genetic evaluation for TP53 PVs should be strongly considered in patients with anRMS.
15 Apr 2022Submitted to Pediatric Blood & Cancer
15 Apr 2022Submission Checks Completed
15 Apr 2022Assigned to Editor
20 Apr 2022Reviewer(s) Assigned
17 May 2022Review(s) Completed, Editorial Evaluation Pending
26 May 2022Editorial Decision: Revise Major
05 Oct 20221st Revision Received
05 Oct 2022Assigned to Editor
05 Oct 2022Submission Checks Completed
07 Oct 2022Reviewer(s) Assigned
22 Oct 2022Review(s) Completed, Editorial Evaluation Pending
04 Dec 2022Editorial Decision: Revise Minor
26 Feb 20232nd Revision Received
26 Feb 2023Submission Checks Completed
26 Feb 2023Assigned to Editor
27 Feb 2023Review(s) Completed, Editorial Evaluation Pending
27 Feb 2023Reviewer(s) Assigned
12 Apr 2023Editorial Decision: Accept