用尼拉帕利作为一线维持疗法治疗 RAD51C 突变携带者的原发性输卵管癌和原发性乳腺癌:病例报告。

IF 2 4区 医学 Q3 ONCOLOGY Hereditary Cancer in Clinical Practice Pub Date : 2024-02-15 DOI:10.1186/s13053-024-00274-8
Hua Yuan, Rong Zhang, Ning Li, Hongwen Yao
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引用次数: 0

摘要

鉴于 RAD51C 基因突变的罕见性,RAD51C 基因突变携带者在确诊为卵巢癌后发生转移性乳腺癌的风险和治疗方法尚不明确,尤其是对于那些接受过 PARPi 治疗的患者。我们报告了一名 65 岁女性的病例,她被诊断为 IIIC 期高级别浆液性原发性输卵管癌。患者无乳腺癌或卵巢癌家族史。患者接受了三个周期的紫杉醇和卡铂新辅助化疗,并取得了完全反应。在间隔性切除手术后,患者接受了三个周期的辅助化疗。患者接受了尼拉帕利作为一线维持治疗。经过 36 个月的尼拉帕尼治疗后,患者左侧乳房出现 II 级浸润性导管癌,雌激素受体阳性(90%),Ki-67 阳性(30%),孕激素受体和人类表皮生长因子受体 2 阴性。计算机断层扫描显示没有远处转移。随后进行了改良根治性乳房切除术和腋窝淋巴结清扫术。乳房的最终病理报告显示,左乳为 1.8 厘米 Bloom-Richardson II 级浸润性导管癌,伴有腋窝淋巴结转移(1/21)。最后,乳腺癌分期为 IIA 期,pT1cN1M0。该病例中的并发乳腺癌可能是首例在尼拉帕利治疗期间发生 RAD51C 突变的输卵管癌患者第二原发癌的报道。需要进一步研究以确定最佳治疗方案。
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Primary fallopian tube cancer followed by primary breast cancer in RAD51C mutation carrier treated with niraparib as first line maintenance therapy: a case report.

Given the rarity of RAD51C mutations, the risk and treatment of metachronous breast cancer after the diagnosis of ovarian cancer in RAD51C mutation carriers is not clear, especially for those who have received PARPi treatment. We report the case of a 65-year-old woman diagnosed with stage IIIC high-grade serous primary fallopian tube cancer. The patient had no family history of breast or ovarian cancer. The patient received three cycles of neoadjuvant chemotherapy with paclitaxel and carboplatin and achieved a complete response. After interval debulking surgery, the patient received three cycles of adjuvant chemotherapy. Collection and extraction of saliva DNA for next-generation sequencing identified a RAD51C mutation c.838-2 A > G. The patient received niraparib as front-line maintenance treatment. After 36 months of niraparib treatment, the patient had grade II invasive ductal carcinoma of the left breast that was positive for estrogen receptor (90%) and Ki-67 (30%) and negative for progesterone receptor and human epidermal growth factor receptor 2. Computed tomography revealed the absence of distant metastases. Modified radical mastectomy and axillary lymph node dissection were then performed. The final pathological report of the breast showed a 1.8 cm Bloom-Richardson grade II invasive ductal carcinoma in the left breast with axillary lymph node metastasis (1/21). Finally, the breast cancer was stage IIA, pT1cN1M0. The metachronous breast cancer in this case may be the first report of second primary cancer in fallopian tube cancer patient harboring a RAD51C mutation during niraparib treatment. Further studies are required to determine optimal treatment.

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来源期刊
CiteScore
3.10
自引率
5.90%
发文量
38
审稿时长
>12 weeks
期刊介绍: Hereditary Cancer in Clinical Practice is an open access journal that publishes articles of interest for the cancer genetics community and serves as a discussion forum for the development appropriate healthcare strategies. Cancer genetics encompasses a wide variety of disciplines and knowledge in the field is rapidly growing, especially as the amount of information linking genetic differences to inherited cancer predispositions continues expanding. With the increased knowledge of genetic variability and how this relates to cancer risk there is a growing demand not only to disseminate this information into clinical practice but also to enable competent debate concerning how such information is managed and what it implies for patient care. Topics covered by the journal include but are not limited to: Original research articles on any aspect of inherited predispositions to cancer. Reviews of inherited cancer predispositions. Application of molecular and cytogenetic analysis to clinical decision making. Clinical aspects of the management of hereditary cancers. Genetic counselling issues associated with cancer genetics. The role of registries in improving health care of patients with an inherited predisposition to cancer.
期刊最新文献
BRCA2 germline mutation carrier with five malignancies: a case report. A genome-wide association study in Swedish colorectal cancer patients with gastric- and prostate cancer in relatives. Breast cancer and ATM mutations: treatment implications. Meeting abstracts from the Annual Conference "Clinical Genetics of Cancer 2023". Validation of a guidelines-based digital tool to assess the need for germline cancer genetic testing.
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