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三重异时性恶性肿瘤中的 BRCA2、PALB2、RECQL4 种系致病变异和体细胞 TP53 突变:病例报告和文献综述
Authors Liu Y, Yang H, Fu X, Zhong L, Xu P, Fang F, Liu Y, Li Q, Yan Y, Wei S, Wang J, Zhang C
Received 30 October 2023
Accepted for publication 30 December 2023
Published 10 January 2024 Volume 2024:17 Pages 23—29
DOI https://doi.org/10.2147/IMCRJ.S440132
Checked for plagiarism Yes
Review by Single anonymous peer review
Peer reviewer comments 2
Editor who approved publication: Professor Ronald Prineas
Background: Multiple primary cancer (MPC) refers to the presence of more than one cancer in an individual. Triple primary malignancies are uncommon.
Case: We report the case of a 50-year-old postmenopausal woman in our gynecology department, diagnosed with endometrial cancer, ovarian cancer, and unilateral breast cancer. She carried germline mutations in BRCA2, PALB2, and RECQL4, along with a somatic pathogenic variant in TP53. Endometrial cancer patients harboring germline pathogenic variants in BRCA2 exhibit a heightened risk of ovarian and breast cancer. BRCA2 is known to play a role in the development of ovarian and breast cancer, while PALB2 is identified as a gene associated with breast cancer susceptibility. RECQL4 has been linked to breast cancer, cervical cancer, and other tumors.
Conclusion: Genetic testing may be imperative for identifying MPC in endometrial cancer patients. For individuals with BRCA2 and other gene pathogenic variants, routine examination and monitoring of the endometrium, ovaries, breasts, and other sites prone to polygenic cancer are recommended.
Keywords: multiple primary cancer, endometrial cancer, ovarian cancer, breast cancer, genetic test