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    Molecular analysis of Fanconi anemia: the experience of the Bone Marrow Failure Study Group of the Italian Association of Pediatric Onco-Hematology
    Haematologica (2014)
    Daniela De RoccoRoberta BottegaEnrico CappelliSimona CavaniMaria Criscuolo
    Fanconi anemia is an inherited disease characterized by congenital malformations, pancytopenia, cancer predisposition, and sensitivity to cross-linking agents. The molecular diagnosis of Fanconi anemia is relatively complex for several aspects including genetic heterogeneity with mutations in at least 16 different genes. In this paper, we report the mutations identified in 100 unrelated probands enrolled into the National Network of the Italian Association of Pediatric Hematoly and Oncology. In approximately half of these cases, mutational screening was carried out after retroviral complementation analyses or protein analysis. In the other half, the analysis was performed on the most frequently mutated genes or using a next generation sequencing approach. We identified 108 distinct variants of the FANCA, FANCG, FANCC, FANCD2, and FANCB genes in 85, 9, 3, 2, and 1 families, respectively. Despite the relatively high number of private mutations, 45 of which are novel Fanconi anemia alleles, 26% of the FANCA alleles are due to 5 distinct mutations. Most of the mutations are large genomic deletions and nonsense or frameshift mutations, although we identified a series of missense mutations, whose pathogenetic role was not always certain. The molecular diagnosis of Fanconi anemia is still a tiered procedure that requires identifying candidate genes to avoid useless sequencing. Introduction of next generation sequencing strategies will greatly improve the diagnostic process, allowing a rapid analysis of all the genes.
    FANCA
    FANCD2
    Nonsense mutation
    Citations (3)
    Hematopoietic Stem Cell Transplantation in Pediatric Diseases
    Stem cell biology and regenerative medicine (2016)
    Şule ÜnalDuygu Uçkan
    Hematopoietic stem cell
    Citations (0)
    Reduced-intensity Bu/Cy+ATG as conditioning regimen for allogeneic hematopoietic stem cell transplantation in the patients with hematopoietic malignant disease
    Clinical Medicine (2008)
    Yun Cai
    Objective To study the efficacy of allogeneic hematopoietic stem cell transplantation(Allo-hsct) treating hematopoietic malignant disease patients prepared with dose-reduced Bu/Cy+ATG conditioning regimen.Methods Eighteen patients who treated with dose-reduced Bu/Cy+ATG as conditioning regimen(mephalan:4 mg/(kg·d)×3,60 mg/(kg·d)×2,Me-CCNU 450 mg/(m2·d)×1,ATG 3 mg/(kg·d)×2,and graft-versus-host disease(GVHD) prophylaxis included cyclosporin A,MMF and MTX.Results All patients achieved full donor chimerism without graft failure.After a median follow-up period of 22 months(range,3-40 months),10 patients survived event-free,in the patients who treated with HSCT,the survival rate was 66.7%.Conclusion The reduced-intensity conditioning regimen using Bu/Cy+ATG is safe,effective and with less complications in HSCT for patients with hematological malignancies.
    Regimen
    Citations (0)
    62. Hematopoietic Stem Cell Gene Therapy with Lentiviral Vector in 4 Patients with Cerebral X-Linked Adrenoleukodystrophy: Long-Term Outcome and Comparison of Efficacy with Allogeneic Hematopoietic Stem Cell Transplantation
    Molecular Therapy (2013)
    Adrenoleukodystrophy
    Hematopoietic stem cell
    Citations (0)
    HSCT for Fanconi anemia in children: factors that influence early and late results
    Bone Marrow Transplantation (2008)
    J-H Dalle
    Bone marrow failure
    Savior sibling
    Regimen
    Total body irradiation
    FANCD2
    Citations (20)
    Progress and treatment of respiratory complications of hematopoietic stem cell transplantation
    Chinese Journal of Asthma (2010)
    Xiaohong Chen
    Respiratory complications of hematopoietic stem cell transplantation mostly result from kinds of pathogen infection because of inferior immune function.It includes early,medium-term and late complacations,whose clinical manifestations are different. Key words: Hematopoietic stem cell Respiratory; Complications; Infection Pretreatment; Related toxicity
    Hematopoietic stem cell
    Citations (0)
    Research Progress of Hematopoietic Stem Cell Transplantation
    Guoji shuxue ji xueyexue zazhi (2014)
    Tao WuCunbang Wang
    Hematopoietic stem cell transplantation (HSCT) is a important cell therapy developing recent years,which is an important cure method for hematological malignancies and some autoimmune diseases.Now,we make a review in HSCT area about conditioning regimen,complications post transplantation,reconstitution of immune system,as well as graft versus host disease,as follow. Key words: Hematopoietic stem cell transplantation,graft vs host disease;  Complications
    Hematopoietic stem cell
    Citations (0)
    ALLOGENEIC HEMATOPOIETIC STEM CELL TRANSPLANTATION IN CHILDREN: NOW, PROBLEMS AND PROSPECTS
    Russian Journal of Pediatric Hematology and Oncology (2015)
    B. V. АfanasievL. S. ZubarovskayaIvan Moiseev
    Hematopoietic stem cells transplantation (HSCT) is a potentially curative method for patients suffering from different oncological, hemato-logical and inherited diseases. Two variants of these procedures are autologous ( а uto-HSCT) and allogeneic ( а ll о -HSCT) transplantation. Indications, availability of donor (related, unrelated, haploidentical), conditioning regimen (myeloablative, reduce intensity conditioning regimens, non-myeloablative), methods of “graft versus host disease” prophylaxis are taken into account when performing HSCT. In allo-HSCT “graft versus leukemia” effect develops and it is the platform for providing of immunoadoptive therapy.
    Regimen
    Citations (27)
    Clinical Study of Allogeneic Hematopoietic Stem Cell Transplantation for Hemophagocytic Syndrome
    The Practical Journal of Cancer (2013)
    Guo Zhi
    Objective To explore the effect of allogeneic hematopoietic stem cell transplantation(HSCT) for hemophagocytic syndrome(HPS).Methods 2 patients with HPS who had received combined chemotherapy underwent peripheral blood HSCT after reduced-intensity conditioning.Results The 2 patients were all engrafted.1 patient was alive for 16 months without evidence of disease and GVHD.The other one who had central nervous system(CNS) involved relapsed in CNS.Conclusion This study provides further evidence for proloned DFS after FLU/BU/ATG Allo-HSCT for HPS.The reduced-intensity conditioning regimen is effective for HPS who had no CNS complications.Those who had CNS complications before HSCT,the myeloablative regimen may be better.
    Regimen
    Citations (0)
    Influence factors of acute graft versus host disease in allogeneic hematopoietic stem cell transplantation
    Guoji shuxue ji xueyexue zazhi (2017)
    Di YuZhiling Yan
    Acute graft versus host disease (aGHVD) has seriously affected the success rate of allogeneic hematopoietic stem cell transplantation (allo-HSCT) and becomes the significant cause for the transplant-related mortality. Researching the influence factors of aGVHD to reduce the incidence of aGVHD after allo-HSCT is one of the hot topics in the study of scholars at home and abroad.This review will discuss the new research progress of influence factors of aGVHD in allo-HSCT recent years, in aspects of characteristics of donors and recipients, conditioning regimen before transplantation, prophylaxis of graft versus host disease (GVHD), etc.. Key words: Graft vs host disease; Hematopoietic stem cell transplantation, allogene; Influence factors
    Hematopoietic stem cell
    Citations (0)