Hematopoietic Stem Cell Transplantation for X-Linked Thrombocytopenia With Mutations in the WAS gene.
Hematopoietic Stem Cell Transplantation for X-Linked Thrombocytopenia With Mutations in the WAS gene.
复制标题
造血干细胞移植治疗 WAS 基因突变的 X 连锁血小板减少症。
DOI：
10.1007/s10875-014-0105-5
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发表时间：
2015
期刊：
影响因子：
9.1
通讯作者：
Nonoyama S.
中科院分区：
文献类型：
--
作者：
Oshima K;Imai K;Albert M.H;Bittner T.C;Strauss G;Filipovich A.H;Morio T;Kapoor N;Dalal J;Schultz K.R;Casper J.T;Notarangelo L.D;Ochs H.D;Nonoyama S.
X连锁血小板减少症（XLT）是Wiskott-Aldrich综合征（WAS）的一种轻度形式，由WAS基因突变引起。最近一项关于XLT患者大队列的临床结局和分子基础的回顾性研究表明，尽管总生存率很高，但保守治疗会严重影响无事件生存率。为了回答造血干细胞移植（HSCT）是否为XLT提供了一种可行的替代治疗选择的问题，我们回顾性研究了1990年至2011年期间在美国、意大利、德国、加拿大和日本的14家移植中心接受HSCT的24例XLT患者的HSCT结局。植入率为100%，总生存率为83.3%。在4例非存活者中，2例在HSCT前接受脾切除术并死于败血症，2例死于与严重GVHD相关的曲霉菌感染。除1例患者外，所有患者的移植前并发症均通过HSCT解决。我们的数据表明，清髓性预处理后的HSCT是治愈性的，作为XLT的治疗选择，其风险可接受。
X-linked thrombocytopenia (XLT) is a mild form of the Wiskott-Aldrich syndrome (WAS) caused by mutations in theWASgene. A recent retrospective study of the clinical outcome and molecular basis of a large cohort of XLT patients demonstrated that although overall survival is excellent, event free survival is severely affected with conservative treatment. To answer the question whether hematopoietic stem cell transplantation (HSCT) offers a viable alternative therapeutic option in XLT, we retrospectively investigated the outcome of HSCT in a cohort of 24 XLT patients who received HSCT between 1990 and 2011 at 14 transplant centers in the United States, Italy, Germany, Canada, and Japan. The engraftment rate was 100 % and the overall survival rate was 83.3 %. Of the four non-survivors, 2 underwent splenectomy prior to HSCT and died of sepsis, and two of aspergillus infections associated with severe GVHD. In all but one patient, pretransplant complications were resolved by HSCT. Our data indicate that HSCT following myeloablative conditioning is curative and associated with acceptable risks as a treatment option for XLT.