Clinical Features of Breast Cancer in South Korean Patients with Germline TP53 Gene Mutations
| Autor: | Soong June Bae, Woo Chan Park, Joon Jeong, Sung Mi Jung, Pill Sun Paik, Chang Ik Yoon, Jong Ho Cheun, Jai Min Ryu, Tae Kyung Yoo, Juneyoung Ahn, Hassan Alyami, Han-Byoel Lee, Min Kyung Cho |
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| Rok vydání: | 2021 |
| Předmět: |
0301 basic medicine
Oncology Cancer Research medicine.medical_specialty business.industry medicine.medical_treatment Gene mutation Ductal carcinoma medicine.disease Radiation therapy Cancer syndrome 03 medical and health sciences 030104 developmental biology 0302 clinical medicine Germline mutation Breast cancer Li–Fraumeni syndrome 030220 oncology & carcinogenesis Internal medicine medicine skin and connective tissue diseases business Mastectomy |
| Zdroj: | Journal of Breast Cancer. 24:175 |
| ISSN: | 2092-9900 1738-6756 |
| DOI: | 10.4048/jbc.2021.24.e16 |
| Popis: | Purpose Li-Fraumeni syndrome (LFS) is a rare autosomal cancer syndrome caused by a germline mutation in the TP53 gene. Breast cancer in LFS patients is of various subtypes; however, limited data are available on the clinicopathological features of these subtypes and their appropriate treatments. This study aimed to review the clinical features and treatments for breast cancer in South Korean patients with germline TP53 mutations. Methods Data on the clinicopathological features and treatment of all breast cancer patients with LFS were collected retrospectively from the available database of 4 tertiary hospitals in the Republic of Korea. Results Twenty-one breast cancer cases in 12 unrelated women with confirmed germline TP53 mutations were included in the study. The median age at diagnosis was 33.5 years. The histopathological diagnosis included invasive ductal carcinoma (n = 16), ductal carcinoma in situ (n = 3), and malignant phyllodes tumor (n = 2). While 42% and 31% of the cases were positive for estrogen and progesterone receptors, respectively, 52.6% were human epidermal growth factor receptor 2 (HER2) positive, and 21% were triple-negative. The treatments included mastectomy (52%) and breast-conserving surgery (38%). Five patients underwent radiotherapy (RT). The median follow-up period was 87.5 (8-222) months. There were 3 ipsilateral and 4 contralateral breast recurrences during the follow-up, and 8 patients developed new primary cancers. In the post-RT subgroup, there were 2 ipsilateral and 2 contralateral breast recurrences in 1 patient, and 4 patients had a new primary cancer. Conclusion As reported in other countries, breast cancer in LFS patients in South Korea had an early onset and were predominantly but not exclusively positive for HER2. A multidisciplinary approach with adherence to the treatment guidelines, considering mastectomy, and avoiding RT is encouraged to prevent RT-associated sequelae in LFS patients. |
| Databáze: | OpenAIRE |
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