Một mô hình phân biệt giữa biểu hiện ác tính và không ác tính trong huyết học, được thúc đẩy bởi sự thiếu hụt miễn dịch nguyên phát: một sự tương tác phức tạp

Springer Science and Business Media LLC - Tập 20 - Trang 363-380 - 2021
C. Kelaidi1, V. Tzotzola1, S. Polychronopoulou1
1Department of Pediatric Hematology-Oncology, “Aghia Sophia” Children’s Hospital, Athens, Greece

Tóm tắt

Các bệnh ác tính huyết học (HM) phát triển trên nền tảng các thiếu hụt miễn dịch nguyên phát (PID) là hiếm gặp và có những đặc điểm bất thường. Việc phân biệt giữa lymphoproliferation ác tính và không ác tính trong các trường hợp huyết học và ung thư nhi khoa và việc tiết lộ xu hướng di truyền phân tử của chúng cho thấy sự tương tác phức tạp giữa PID và HM. Chúng tôi đã nghiên cứu hồi cứu một loạt trường hợp gồm bảy bệnh nhân nhi, tất cả đều mắc PID với các biểu hiện gây nghi ngờ về HM hoặc hội chứng tăng bạch cầu ácid eosin (HES) hoặc HM xác định có nguồn gốc từ lympho. Thiếu miễn dịch kết hợp (CID) mà không phát hiện được gen đột biến đã biết hoặc có ataxia-telangiectasia (AT), hoạt hóa chức năng STAT3 (GOF), thiếu hụt DOCK8 và thiếu hụt CTLA4 được chẩn đoán ở ba, một, một, một và một bệnh nhân, tương ứng. Bệnh nhân mắc CID được chẩn đoán mắc bệnh bạch cầu lymphoblastic cấp tính và lymphoma Hodgkin, tiếp theo là lymphoma Burkitt nguyên phát thứ hai, trong khi đó ở một bệnh nhân mắc AT được chẩn đoán có granulomatosis lymphomatoid. Bệnh lymphoproliferative xuất hiện ở STAT3 GOF, thiếu hụt CTLA4 và CID, mỗi bệnh nhân đều có biểu hiện đó, và HES vô căn ở thiếu hụt DOCK8 (tuổi trung bình khi xuất hiện PID hoặc bất kỳ biểu hiện huyết học nào: bốn tuổi). Bốn bệnh nhân đã trải qua cấy ghép tế bào gốc huyết học (HCT) do STAT3 GOF, thiếu hụt DOCK8 và CID lần lượt một, một và hai ca (tuổi trung bình: 10 tuổi). Tại lần theo dõi cuối cùng, tất cả các bệnh nhân đã được cấy ghép đều còn sống. Việc báo cáo về kiểu hình, kiểu gen và diễn biến bệnh của bệnh nhân đã làm sáng tỏa về tỷ lệ, đặc điểm và bệnh sinh học của HM phức tạp PID. Việc phân biệt giữa lymphoproliferation chưa ác tính với dạng ác tính tương ứng trên cùng một nền tảng bệnh sinh đã chứng tỏ giá trị bổ sung. Kết quả về PID sau HCT được báo cáo ở đây là khả quan.

Từ khóa

#bệnh ác tính huyết học #thiếu hụt miễn dịch nguyên phát #lymphoproliferation #hồi cứu #bệnh sinh

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