Skip to main content

CASE REPORT article

Front. Oncol.
Sec. Cancer Genetics
Volume 14 - 2024 | doi: 10.3389/fonc.2024.1458232

OSTEOSARCOMA PATIENT WITH LI-FRAUMENI SYNDROME: THE FIRST CASE REPORT IN VIETNAM

Provisionally accepted
Thanh T. Le Thanh T. Le 1Hà Tùng Hà Tùng 2Linh M. To Linh M. To 3Quang M. Dang Quang M. Dang 1Hoa T. Bui Hoa T. Bui 4Thanh D. Tran Thanh D. Tran 5Phuong T. Vu Phuong T. Vu 6Hoan B. Giang Hoan B. Giang 6Dung T. Tran Dung T. Tran 5Nguyen X. Hung Nguyen X. Hung 1,4*
  • 1 Vinmec-VinUni Institute of Immunology, Hanoi, Vietnam
  • 2 Department of Medical Biology and Genetics, Hanoi Medical University, Hanoi, Red River Delta, Vietnam
  • 3 University of Science, Vietnam National University, Hanoi, Hanoi, Vietnam
  • 4 Department of Medical Genetics, Vinmec Hi-Tech Center, Vinmec Healthcare System, Hanoi, Vietnam
  • 5 Sarcoma Center, Vinmec Healthcare System, Hanoi, Vietnam
  • 6 Department of Pathology, Vinmec Times City International Hospital, Vinmec Healthcare System, Hanoi, Vietnam

The final, formatted version of the article will be published soon.

    Li-Fraumeni syndrome (LFS) is a hereditary disorder characterized by an increased risk of developing multiple early-onset cancers, primarily due to germline TP53 mutations. Women and men with this mutation face lifetime cancer risks of 90% and 70%, respectively. This report describes the first documented case of LFS with clinical information in Vietnam involving a 9year-old child diagnosed with osteosarcoma who had multiple first-and second-degree relatives with cancer. Whole-genome sequencing (WGS) revealed a heterozygous, pathogenic, autosomal dominant TP53 variant NM_000546.6:c.733G>A (p.Gly245Ser) and a translocation in the 3'UTR of the ATMIN gene with unknown pathogenicity in both the patient and her mother. Sanger sequencing confirmed the presence of the TP53 c.733G>A mutation, which was subsequently detected in extended family members. Of the 17 family members invited for testing, only 8, none of whom currently have cancer, agreed to participate; all tested negative for the mutation. This case highlights the importance of genetic testing for the early detection and management of cancers in LFS patients. It also underscores significant barriers to genetic screening in Vietnam, including limited access and the psychosocial consequences of testing, which emphasize the need for improved genetic counseling and surveillance strategies that are tailored to local contexts.

    Keywords: Li-Fraumeni Syndrome, Tp53 gene, Whole-genome sequencing, Genetic Testing, ATMIN

    Received: 02 Jul 2024; Accepted: 03 Sep 2024.

    Copyright: © 2024 Le, Tùng, To, Dang, Bui, Tran, Vu, Giang, Tran and Hung. This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) or licensor are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.

    * Correspondence: Nguyen X. Hung, Vinmec-VinUni Institute of Immunology, Hanoi, Vietnam

    Disclaimer: All claims expressed in this article are solely those of the authors and do not necessarily represent those of their affiliated organizations, or those of the publisher, the editors and the reviewers. Any product that may be evaluated in this article or claim that may be made by its manufacturer is not guaranteed or endorsed by the publisher.