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Three novel rare TP53 fusion mutations in a patient with multiple primary cancers:a case reportOACSTPCD

Three novel rare TP53 fusion mutations in a patient with multiple primary cancers:a case report

英文摘要

As survival rates improve and detection technologies advance, the occurrence of multiple primary cancers (MPCs) has been increasing. Approximately 16%of cancer survivors develop a subsequent malignancy, with lung cancer often developing after esophageal cancer due to potential"field cancerization"effects. Despite this observation, the genetic heterogeneity underlying MPCs remains understudied. However, the recent emergence of genetic testing has expanded the scope of investigations into MPCs to investigate signatures underlying cancer predisposition. This report reveals 3 unprecedented TP53 fusion mutations in a Chinese patient afflicted by MPCs, namely, AP1M2-TP53 (A1;T11) fusion, TP53-ILF3 (T10;I13) fusion, and SLC44A2-TP53 (S5;T11) fusion. This patient exhibited an extended period of survival after diagnosis of extensive-stage small cell lung cancer, which occurred 6 years after the diagnosis of esophageal squamous cell cancer. This unique report may provide supplementary data that enhance our understanding of the genetic landscape of MPCs.

Mengyao Lu;Xuemei Zhang;Qian Chu;Yuan Chen;Peng Zhang

Department of Oncology, Tongji Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan 430030, China

Multiple primary cancers;TP53 fusion mutation;Esophageal squamous cell cancer;Extensive-stage small cell lung cancer;Immunotherapy;Antiangiogenic therapy

《肿瘤学与转化医学(英文)》 2024 (001)

47-51 / 5

This research was supported by the National Natural Science Foun-dation of China(grant numbers 81974483 and 82072589)and the Chinese Society of Clinical Oncology-Hengrui Cancer Research Fund(Y-HR2020QN-0946).

10.1097/ot9.0000000000000024

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