Jiangsu Institute of Hematology, First Affiliated Hospital of Soochow University, Suzhou, People's Republic of China.
Department of Hematology, The Affiliated Drum Tower Hospital of Nanjing University Medical School, 321 Zhongshan Road, Nanjing, 210008, People's Republic of China.
BMC Cancer. 2020 Mar 6;20(1):195. doi: 10.1186/s12885-020-6681-2.
Donor acute lymphoblastic leukemia with recipient intact is a rare condition. We report a case of donor developing acute lymphoblastic leukemia 8 yrs after donating both bone marrow and peripheral blood hematopoietic stem cells.
This case report describes a 51-year old female diagnosed with acute lymphoblastic leukemia who donated both bone marrow and peripheral blood stem cells 8 yrs ago for her brother with severe aplastic anemia. Whole exome sequencing revealed leukemic genetic lesions (SF3B1 and BRAF mutation) only appeared in the donor sister, not the recipient, and an unusual type of hematopoietic stem cell transplantation with the recipient's peripheral blood stem cells was done. The patient remained in remission for 3 months before disease relapsed. CD19 CAR-T therapy followed by HLA-identical unrelated hematopoietic stem cell transplantation was applied and the patient remains in remission for 7 months till now.
This donor leukemia report supports the hypothesis that genetic lesions happen randomly in leukemogenesis. SF3B1 combined with BRAF mutation might contribute to the development of acute lymphoblastic leukemia.
供体急性淋巴细胞白血病伴受体完整是一种罕见情况。我们报告了一例供体在捐献骨髓和外周血造血干细胞 8 年后发生急性淋巴细胞白血病的病例。
本病例报告描述了一名 51 岁女性,被诊断为急性淋巴细胞白血病,她在 8 年前为患有严重再生障碍性贫血的哥哥捐献了骨髓和外周血造血干细胞。全外显子组测序显示,白血病遗传病变(SF3B1 和 BRAF 突变)仅出现在供体姐姐身上,而不在受体身上,并且对受体的外周血造血干细胞进行了一种不常见的造血干细胞移植。患者在疾病复发前缓解了 3 个月。随后进行了 CD19 CAR-T 治疗和 HLA 完全不相合的无关造血干细胞移植,患者至今仍处于缓解期 7 个月。
本供体白血病报告支持遗传病变在白血病发生中随机发生的假说。SF3B1 与 BRAF 突变的结合可能有助于急性淋巴细胞白血病的发展。