International Medical Case Reports Journal (Jan 2024)

BRCA2, PALB2, RECQL4 Germline Pathogenic Variants, and Somatic TP53 Mutation in Triple Metachronous Malignancies: A Case Report and Literature Review

  • Liu Y,
  • Yang H,
  • Fu X,
  • Zhong L,
  • Xu P,
  • Fang F,
  • Liu Y,
  • Li Q,
  • Yan Y,
  • Wei S,
  • Wang J,
  • Zhang C

Journal volume & issue
Vol. Volume 17
pp. 23 – 29

Abstract

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Yang Liu,1,2,* Hui Yang,1,2,* Xueshu Fu,1,2 Luting Zhong,1,2 Ping Xu,1,2 Fang Fang,1,2 Ying Liu,1,2 Qing Li,1,2 Ya’nan Yan,1,2 Shanchuang Wei,1,2 Junqing Wang,1,2 Chunhua Zhang1– 3 1Department of Gynaecology, Affiliated Hospital of YangZhou University Huai ‘an Maternal and Child Health Care Center, Huai’an, Jiangsu, People’s Republic of China; 2Department of Gynaecology, The Huai’an Maternity and Child Clinical College of Xuzhou Medical University, Huai’an, Jiangsu, People’s Republic of China; 3Department of Integrated Traditional Chinese & Western Clinical Medicine, Macau University of Science and Technology, Macau, People’s Republic of China*These authors contributed equally to this workCorrespondence: Chunhua Zhang, Department of Gynaecology, The Huai’an Maternity and Child Clinical College of Xuzhou Medical University, Huai’an, Jiangsu, People’s Republic of China, Tel +86-13952326117, Email [email protected]: 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

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