ABSTRACT
This study was aimed to investigate the safety and effectiveness of tumor-ablative Chemotherapy combined with low intensity conditioning regiment BUCy/TBICy for patients with hematologic malignancies receiving allogeneic hematopoietic stem cell transplantation (allo-HSCT). The clinical data of 30 patients with hematologic malignancies received above-mentioned therapeutic method from January 2012 to January 2013 was analyzed retrospectively, and the engraftment, GVHD, infection, conditioning-related toxicity, relapse and survival rates were evaluated. All the patients signed the informed consent before transplantation. The median follow-up duration was 20.5 (16.3-27.3) months. The results indicated that all the patients had been engrafted successfully. One year overall survival (OS) and disease-free survival (DFS) rates were 93.3% and 83.3% respectively. No conditioning-related toxicity occurred. The incidences of II-IV grade aGVHD was 37.9%, among which incidence of III-IV grade aGVHD was 3.4%; incidence of extensive cGVHD was 13.8%. So far, 1 case relapsed, 1 case displayed graft rejection, and poor function of graft occurred in 1 case, death occurred in 2 cases(6.7%). It is concluded that tumor-ablative chemotherapy combined with low intensity-modified BUCy/TBICy is safe and effective in allogeneic hematopoietic stem cell transplantation for hematologic malignancies, and it is useful to reduce relapse of hematologic malignancies after transplantation.
Subject(s)
Adolescent , Adult , Child , Child, Preschool , Female , Humans , Infant , Male , Middle Aged , Young Adult , Antineoplastic Combined Chemotherapy Protocols , Therapeutic Uses , Hematologic Neoplasms , Therapeutics , Hematopoietic Stem Cell Transplantation , Methods , Retrospective Studies , Transplantation Conditioning , Methods , Transplantation, Homologous , Treatment OutcomeABSTRACT
<p><b>OBJECTIVE</b>To investigate the mutation of glucose-6-phosphatase gene (G6PC gene) in a patient with glycogen storage disease Ⅰa.</p><p><b>METHODS</b>PCR was used to amplify all five exons of G6PC gene. The PCR products were directly sequenced to detect the mutations.</p><p><b>RESULTS</b>A heterozygous 743G>A mutation was found in the patient and his mother, resulting in the substitution of glycine (G) by arginine (R) in codon 222(G222R) in the putative membrane-spanning domain in human G6Pase, but not in his father and his sister.</p><p><b>CONCLUSIONS</b>G222R mutation in G6PC gene was first identified in a patient with glycogen storage disease Ⅰa in mainland China.</p>
Subject(s)
Child, Preschool , Humans , Male , Glucose-6-Phosphatase , Genetics , Glycogen Storage Disease Type I , Genetics , Mutation , Sequence Analysis, DNAABSTRACT
<p><b>OBJECTIVE</b>To explore the feasibility and safety of conditioning regimen containing fludarabine (Flud) for haploidentical hematopoietic stem cell transplantation (HSCT).</p><p><b>METHODS</b>Preparative regimen containing Flud 40 mgxm(-2)xd(-1) on day -7 to -3 in place of cyclophosphamide (CTX) for haploidentical HSCT was given to 35 patients with hematologic malignancies (4 standard risk, 16 high risk, 15 relapse with no remission). All donors received rhG-CSF followed by HSC harvest. One patient received peripheral blood HSCT (PBSCT), one bone marrow transplantation (BMT), and the others BM combination with PBSCT. The regimen-associated side effect, engraftment, incidence of graft-versus-host disease (GVHD) and disease-free survival (DFS) probabilities were observed.</p><p><b>RESULTS</b>All patients achieved sustained, full donor-type engraftment. Thirty-four patients obtained primary durable engraftment, and 1 who rejected graft from his mother obtained successful durable engraftment after the second graft from his father. The cumulative incidence of grade III-IV acute GVHD and chronic GVHD was 12.1% and 31.7%, respectively. With a follow-up duration of 8-25 months, 6 patients were dead, in which 3 died of relapse, 2 of acute GVHD, 1 of fungal infection, none died of regimen-associated side effect. The other 29 patients remained alive and DFS probability was 79.7%.</p><p><b>CONCLUSION</b>Flud based conditioning regimens for haploidentical HSCT is safe and feasible, which reduces regimen-associated side effect, with no increasing the rate of relapse and infection, and decreases the incidence of aGVHD.</p>