Objective To evaluate the clinical outcome of autologous hemopoietic stem cell transplantation (AHSCT) for hematological malignancies. Methods Data of 61 patients with hematological malignancies who underwent AHSCT in Xiangya Hospital from April 1994 to August 2008 were retrospectively analyzed. There were 30 acute non-lymphoblastic leukemias (ANLL), 25 non-Hodgkin lymphoma (NHL), 3 Hodgkin lymphoma (HL), and 3 plasmacytoma. Mel 160 mg/m2 + Ara-C 2.0/2.5 g × 2 +Cy 1.8 g/m2 × 2, or TBI 8-10 Gy + Cy 1.8 g/m2 × 2 were mainly included in pretreatment regimens. Results All patients had rapid hemopoietic reconstitution. There was one patient who died of heart failure during the transplantation process. The rate of AHSCT related death was 1.6 %. The median follow up duration was 52(2-211) months. Forty-seven of 61 patients were still alive during the analysis. The probabilities of disease free survival (DFS) at 5 years were significantly different between these two groups: (77.5±5.5) % for AHSCT groups and (31.6±7.3) % for synchronous intensive chemotherapy groups(P ＜0.01). Conclusion AHSCT can be safely performed as an important treatment constituent for hematological malignancies.

OBJECTIVE: To study the efficacy of allogeneic hemotopoietic stem cell transplantation (allo-HSCT) for hematological malignancy. METHODS: A total of 104 patients with hematological malignancy, who underwent allo-HSCT in Xiangya Hospital from December 1999 to January 2010, were retrospectively analyzed. Of the patients, the transplantation related mortality (TRM), relapse rate (RR), 5-year overall survival (OS) and disease free survival (DFS) were estimated by Kaplan-Meier analysis. The unfavorable prognostic factors were also statistically examined. RESULTS: Hematopoietic reconstitution was achieved in 101 patients. At the last data of follow-up, the incidences of severe acute graft versus host disease (aGVHD) and extensive chronic GVHD were 15.38% and 25.53%, and the TRM and RR were 15.66% and 21.76%, respectively. The estimated 5-year OS and DFS for all patients were (73.49±4.59)% and (63.10±5.32)%, respectively. Those for acute myeloid leukemia (AML) patients were (63.00±9.51)% and (49.30±9.96)%, and those for chronic myeloid leukemia (CML) patients were (83.87±5.06)% and (74.55±6.79)%, respectively. The survival analysis suggested the poor prognostic factors for allo-HSCT recipients including female sex, severe aGVHD and refractory hematological malignancy. Further multivariate analyses revealed that severe aGVHD and refractory hematological malignancy were the independent risk factors of poor prognosis for the recipients (P<0.05). The 5-year DFS of severe aGVHD and refractory hematological malignancy patients was (48.22±12.69)% and (42.09±12.31)%, respectively. The TRM of severe aGVHD, HLA-mismatched graft and unrelated donor transplant was significantly higher than that of the corresponding control groups (57.14% vs. 4.81%, 33.33% vs. 10.41%, 26.09% vs. 9.28%; P<0.05). The RR of refractory hematological malignancy was significantly higher than that of the control group (41.09% vs. 15.63%, P<0.05). CONCLUSION The treatment of allo-HSCT can improve the disease free survival of patients with hematological malignany and is an important therapeutic method for hematological malignancy. Severe aGVHD and refractory hematological malignancy are the independent risk factors of poor prognosis for the allo-HSCT recipients with hematological malignancy.
Adolescent ; Adult ; Child ; China ; epidemiology ; Female ; Graft vs Host Disease ; epidemiology ; Hematologic Neoplasms ; therapy ; Hematopoietic Stem Cell Transplantation ; methods ; Humans ; Leukemia, Myelogenous, Chronic, BCR-ABL Positive ; therapy ; Leukemia, Myeloid, Acute ; therapy ; Male ; Middle Aged ; Retrospective Studies ; Transplantation, Homologous ; Young Adult

Objective:To report the clinical phenotype and mutation site of a patient with grey matter heterotopia caused by a de novo heterozygous missense mutation in the TUBB2B gene, and to expand the phenotypic and mutational spectrum of TUBB2B mutations. Methods:One patient with TUBB2B mutation who presented to the Department of Neurology, the First Affiliated Hospital of Air Force Medical University in July 2017 was collected and analyzed for clinical features and mutation site, and a review of previous studies was performed. Results:The male patient started at the age of 18 and presented mainly with seizures, poor left-handed fine motor skills and poor spatial imagination. Magnetic resonance imaging showed nodular grey matter heterotopia in the right cerebral hemisphere, right frontoparietal-temporal localized cerebral gyrus, and cerebral sulcus shallow flat.The whole exon gene test suggested a heterozygous missense mutation in the TUBB2B gene: c.776 C>T (p.Pro259Leu), which was wild-type in both of his parents. The mutation site was located between the tubulin and tubulin-c structural domains and did not affect the function of the essential structural domain. After treatment with magnesium valproate in combination with levetiracetam, the patient′s seizure symptoms were significantly controlled and he has been seizure-free for 3 years now. Conclusions:The TUBB2B gene c.776 C>T (p.Pro259Leu) heterozygous missense mutation is a novel missense mutation causing grey matter heterotopia. The patient had a good prognosis, and the combination of two antiepileptic drugs resulted in complete seizure control.