Auerbach A D, Liu Q, Ghosh R, Pollack M S, Douglas G W, Broxmeyer H E
Laboratory for Investigative Dermatology, Rockefeller University, New York, New York.
Transfusion. 1990 Oct;30(8):682-7. doi: 10.1046/j.1537-2995.1990.30891020324.x.
Reported here are studies of Fanconi anemia fetal cells that led to the first use of umbilical cord blood for hematopoietic reconstitution in a clinical trial. Prenatal diagnosis and HLA typing were performed in fetuses at risk for Fanconi anemia (FA) to identify, prior to birth, those that were unaffected with the syndrome and were HLA-identical to affected siblings. Umbilical cord blood was harvested at the delivery of these infants; assays of progenitor cells indicated the presence of colony-forming units-granulocyte-macrophage (CFU-GM) in numbers similar to those of bone marrow CFU-GM that are associated with successful engraftment in HLA-matched allogeneic bone marrow transplantation. The possibility that umbilical cord blood from a single individual can be used as an alternative to bone marrow for hematopoietic reconstitution has now been demonstrated by the successful engraftment of two patients with FA. Progenitor cell assays of umbilical cord blood collected at the birth of a child affected with FA, who had been misdiagnosed on the basis of chorionic villus sampling (CVS) studies, indicated a profound deficiency in colony formation, consistent with previously reported abnormalities in the growth of FA cells in vitro. These results suggest that the hematopoietic disorder in FA is related to an underlying problem with cell proliferation.
本文报道了对范可尼贫血胎儿细胞的研究，这些研究促成了脐带血在一项临床试验中首次用于造血重建。对有患范可尼贫血（FA）风险的胎儿进行产前诊断和HLA分型，以便在出生前识别出未患该综合征且与患病同胞HLA相同的胎儿。在这些婴儿出生时采集脐带血；祖细胞检测表明存在集落形成单位-粒细胞-巨噬细胞（CFU-GM），其数量与骨髓CFU-GM相似，而骨髓CFU-GM与HLA匹配的异基因骨髓移植成功植入相关。两名FA患者的成功植入现已证明，来自单个个体的脐带血可作为造血重建替代骨髓的可能性。对一名患FA儿童出生时采集的脐带血进行祖细胞检测，该儿童曾根据绒毛取样（CVS）研究被误诊，结果表明集落形成严重不足，这与先前报道的FA细胞体外生长异常一致。这些结果表明，FA中的造血障碍与细胞增殖的潜在问题有关。
