Đặc điểm lâm sàng, cận lâm sàng của bệnh nhân ung thư buồng trứng có đột biến gen BRCA1/2 tại bệnh viện K=Clinical and paraclinical characteristics ovarian cancer patients with BRCA1/2 mutation in K hospital

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Tác giả: Thị Yến Lê, Thị Hân Phạm

Ngôn ngữ: vie

Ký hiệu phân loại:

Thông tin xuất bản: Tạp chí Y học Việt Nam (Tổng hội Y học Việt Nam), 2024

Mô tả vật lý: tr.116-124

Bộ sưu tập: Metadata

ID: 478123

Thêm vào giỏ

BRCA1/2 mutations have been identified to be associated with various aspects of ovarian cancer. Currently, there is still a lack of data on the clinical and paraclinical characteristics of ovarian cancer patients with BRCA1/2 mutations in Vietnam. Methods: This is a descriptive case series of 35 patients who were diagnosed with ovarian carcinoma confirmed by histopathology and immunohistochemistry and who had blood or tissue samples confirmed to have BRCA1/2 mutations. The study aimed to evaluate clinical and paraclinical characteristics and was conducted at K Hospital or Vinmec Hospital from April 2022 to April 2023. Results: The majority of patients were over 50 years old (60%), and most had a disease course lasting more than one month (97.2%). The most common symptom was abdominal distension, accounting for 71.4%. Three patients had a history of breast cancer, and three patients had a family history of sisters diagnosed with breast or ovarian cancer. The majority of patients were initially diagnosed at stage III (74.2%), with high-grade serous histopathology being the most common (94.4%). BRCA1 mutations were predominant, accounting for 87.5% of patients, with the most common mutations being 185delAG and 5382insC in BRCA1 and 6174delT in BRCA2. Conclusions: Ovarrian cancer patients with BRCA1/2 gene mutations have severe prognosis. BRCA1 mutation is predominant. Evaluation of BRCA1/2 in ovarian and breast cancer patients, especially among high-risk group, is necessary to have optimal therapeutics and suitable screening and prevention strategies.Đột biến BRCA1/2 đã được xác định có liên quan đến nhiều khía cạnh khác nhau của ung thư buồng trứng. Hiện tại còn thiếu các dữ liệu về đặc điểm lâm sàng và cận lâm sàng của bệnh nhân ung thư buồng trứng mang đột biến BRCA1/2 tại Việt Nam. Đối tượng, phương pháp: Nghiên cứu mô tả chùm ca bệnh trên 35 bệnh nhân được chẩn đoán xác định bằng mô bệnh học, hóa mô miễn dịch là ung thư biểu mô buồng trứng
có mẫu máu hoặc mẫu mô xét nghiệm khẳng định có đột biến BRCA1/2 thực hiện tại Bệnh viện K hoặc Bệnh viện Vinmec từ tháng 4-2022 đến tháng 4- 2023 nhằm đánh giá các đặc điểm lâm sàng và cận lâm sàng của bệnh nhân ung thư buồng trứng mang đột biến BRCA1/2. Kết quả: Nhóm bệnh nhân >
50 tuổi chiếm đa số (60%) và hầu hết thời gian diễn biến bệnh kéo dài >
1 tháng (97,2%) trước nhập viện. Triệu chứng cơ năng hay gặp nhất là căng tức bụng, chiếm 71,4%. Có 3 bệnh nhân có tiền sử ung thư vú và 3 bệnh nhân có tiền sử gia đình có chị, em gái được chẩn đoán ung thư vú hoặc ung thư buồng trứng. Phần lớn bệnh nhân được chẩn đoán ban đầu ở giai đoạn III (74,2%), thể mô bệnh học thanh dịch độ cao chiếm tỷ lệ cao nhất 94,4%. Đột biến BRCA1 chiếm ưu thế với tỷ lệ 87,5%, các đột biến chủ yếu trên 185delAG và 5382insC tại BRCA 1 và 6174delT trên BRCA2. Kết luận: Các bệnh nhân ung thư buồng trứng mang đột biến BRAC1/2 có tiên lượng xấu. Tỷ lệ đột biến BRCA1 cao hơn. Cần xác định tình trạng đột biến BRCA1/2 trên các bệnh nhân ung thư vú và ung thư buồng trứng, đặc biệt nhóm nguy cơ cao để có kế hoạch điều trị tối ưu, dự phòng và sàng lọc phù hợp.

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