Sự tái cấu trúc gen RABGAP1L do der(Y)t(Y;1)(q12;q25) trong bệnh bạch cầu cấp dòng tủy xuất hiện ở một trẻ em mắc hội chứng Klinefelter

Maria Cristina Roberti1, Roberta La Starza2, Cecilia Surace1, Pietro Sirleto1, Rita Maria Pinto3, Valentina Pierini2, Barbara Crescenzi2, Cristina Mecucci2, Adriano Angioni1
1Cytogenetics and Molecular Genetics, Bambino Gesù Children’s Hospital, Rome, Italy
2IbiT Foundation, Fondazione IRCCS Biotecnologie nel Trapianto, Hematology, University of Perugia, Perugia, Italy
3Department of Hematology, Bambino Gesù Children’s Hospital, Rome, Italy

Tóm tắt

Trong nghiên cứu này, chúng tôi báo cáo đặc điểm tế bào tế bào học phân tử của một trường hợp bệnh bạch cầu cấp dòng tủy với một der(Y)t(Y;1)(q12;q25) trong các tế bào tủy xương ở một trẻ em mắc hội chứng Klinefelter. Cytogenetics thông thường cho thấy sự chuyển đoạn không cân bằng, tức là một đoạn 1q25-qter tam bội tiếp giáp với Yq12 thay thế đoạn tận cùng của nhiễm sắc thể Y được thu nhận và chỉ hiện diện trên các tế bào tủy xương. Phép lai huỳnh quang tại chỗ cho thấy điểm đứt gãy ở 1q25 làm gián đoạn gen RABGAP1L, một gen được biểu hiện mạnh trong CFU-GEMM, các tế bào hồng cầu, và các tế bào megakaryocyte, trong khi điểm đứt gãy Yq12 nằm trong vùng trình tự đồng nhiễm sắc. Do der(Y)t(Y;1)(q12;q25) là một thay đổi tế bào học biệt lập, sự tái cấu trúc RABGAP1L cũng như các hiệu ứng liều lượng gen liên quan đến tam bội 1q25-qter và mất Yq12-qter có thể đóng góp lớn vào quá trình sinh ra bạch cầu và/hoặc sự tiến triển của bệnh.

Từ khóa

#bạch cầu cấp dòng tủy #hội chứng Klinefelter #tái cấu trúc gen #chuyển đoạn không cân bằng #RABGAP1L #tam bội

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