RESUMEN
OBJECTIVE: To study the type and corresponding clinical characteristics of primary hemophagocytic lymphohistiocytosis (HLH) associated immune gene mutations in the refractory virus infection or HLH of unknown causes. METHODS: From December 2009 to July 2010, the patients with refractory virus infection or HLH of unknown causes were screened for the primary HLH associated immune genes mutations by DNA sequence analysis, including PRF1, UNC13D, STX11, STXBP2, SH2D1A and XIAP. The clinical characteristics and outcomes were followed up. RESULTS: Totally 25 patients with refractory virus infection or HLH of unknown causes were investigated for the 6 genes and 13 cases were found carrying gene mutations, composing of 6 of PRF1 mutation, 3 of UNC13D, and each one of STX11, XIAP, SH2D1A and STXBP2, respectively. Among the 13 cases with gene mutations, 5 suffered from Epstein-Barr virus associated HLH (EBV-HLH), 1 human herpes virus 7 associated HLH (HHV7-HLH), 1 HLH without causes, 4 chronic activated EB virus infection (CAEBV) with 1 progressing to Hodgkin's lymphoma carrying abnormal chromosome of t(15;17) (q22;q25) and hyperdiploid, 2 EBV associated lymphoma. Among the other 12 patients without gene mutation, 4 suffered from EBV-HLH with 1 progressing to peripheral T lymphoma, 8 suffered from CAEBV. CONCLUSIONS: Primary HLH associated immune gene mutations are critical causes of refractory virus infection of unknown causes, most patients manifest as HLH, some cases appear in CAEBV and EBV associated lymphoma. DNA sequence analysis is helpful to early diagnosis and correct decision-making for treatment.
Asunto(s)
Infecciones por Virus de Epstein-Barr/genética , Linfohistiocitosis Hemofagocítica/genética , Linfohistiocitosis Hemofagocítica/virología , Adolescente , Niño , Preescolar , Análisis Mutacional de ADN , Femenino , Herpesvirus Humano 4 , Humanos , Lactante , Masculino , Proteínas de la Membrana/genética , Proteínas Munc18/genética , Mutación , Perforina , Proteínas Citotóxicas Formadoras de Poros/genética , Proteínas Qa-SNARE/genéticaRESUMEN
OBJECTIVE: To evaluate the clinical outcome of all-ogeneic hematopoietic stem cell transplantation (all-HSCT) for myelodysplastic syndrome (MDS). METHODS: From March 2001 to February 2009, 60 patients with MDS underwent allo-HSCT in our hospital were enrolled in this study. The conditioning regimens were Myleran (BU)/Cyclophosphamide (Cy) or Flu for identical sibling HSCT, and BU/Cy or Flu plus anti-thymocyte globulin (ATG) for haploidentical and unrelated HSCT. Cyclosporine A and short-course MTX were used for graft-versus-host disease (GVHD) prophylaxis. Diseased free survival (DFS) was calculated by Kaplan-Meier analysis. RESULTS: Total DFS rate was 75.3%. The relapse rate was 20%. DFS rates in RA/RAS/5q-, RCMD, RAEB-I/RAEB-II and acute myelocytic leukemia (AML) subgroups were 84.6%, 80.0%, 81.0%, 56.2%, respectively (P > 0.05). DFS rates in IPSS low risk group, intermediate-I risk group, intermediate-I risk group and high risk group were 80.0%, 84.6%, 81.8% and 65.4%, respectively (P > 0.05). DFS rates for allo-HSCT from identical sibling, unrelated or haploidentical donors were 79.2%, 60.0%, 76.9%, respectively (P = 0.028). DFS rates for percentages of blasts in bone marrow pre-transplant were 87.0%, 65.5%, 75.0% in < 5% blasts, 5% - 20% blasts, > 20% blasts subgroups, respectively (P > 0.05). CONCLUSIONS: Since favorable clinical outcomes have been seen in all kinds of MDS by allo-HSCT, HSCT should be the first-line therapy for MDS. No significant differences are found based on different stem cell donors and the percentages of bone marrow blasts pre-HSCT, unrelated or haploidentical donors should be important alternatives if there is no identical sibling available. Chemotherapy before transplantation is not necessary except overt acute leukemia. A larger clinical study is needed to evaluate the clinical outcomes of allo-HSCT in MDS.
Asunto(s)
Trasplante de Células Madre Hematopoyéticas , Síndromes Mielodisplásicos/terapia , Adolescente , Adulto , Supervivencia sin Enfermedad , Femenino , Humanos , Masculino , Persona de Mediana Edad , Síndromes Mielodisplásicos/cirugía , Resultado del Tratamiento , Adulto JovenRESUMEN
OBJECTIVE: To study the incidence, risk factors and prognosis of central nervous system (CNS) complications after hematopoietic stem cell transplantation (HSCT) in order to prevent or reduce its occurrence, provide better diagnosis and treatment and improve the survival of the patients. METHODS: A total of 640 patients who consecutively underwent HSCT in our hospital between May 2001 and December 2007 were included. The clinical outcomes of the patients who developed CNS complications were analyzed. RESULTS: The patients received stem cells from haploidentical family members (Haplo, n = 289), identical siblings (IS, n = 237), unrelated donors (URD, n = 83), unrelated cord blood (n = 14), syngeneic siblings (n = 9) or autologous peripheral blood (n = 8). Fifty-seven of 640 patients (8.9%) developed CNS complications. The incidences were 12.0%, 13.5% and 3.4% in URD-HSCT, Haplo-HSCT and IS-HSCT respectively (P < 0.001). The incidences of CNS complications were 19.4% and 8.3% in cases who received or did not receive conditioning with TBI (P = 0.047). There was no significant difference in the incidences of CNS complications between children (15.3%) and adults (8.3%) (P = 0.072). Similar incidences of CNS complications were seen in patients with hematological malignancies (8.9%) and non-malignant hematological disorders (7.7%) (P = 1.000). Five of the 57 patients developed two kinds of CNS complications. The patterns of CNS complications included relapse (17 cases), infections (15 cases), cyclosporine or FK506 encephalopathy (9 cases), cerebral hemorrhage (8 cases), cerebral infarction (2 cases), Wernicke's encephalopathy (1 case), skull fracture (1 case), drug-related meningitis (1 case), hepatic encephalopathy (3 cases), post-transplant lymphoproliferative disorder (1 case) and undetermined causes (4 cases). The overall mortality in the patients who developed CNS complications was 57.9% and 66.7% of them died of CNS complications. CONCLUSIONS: CNS complications are not uncommon after HSCT and they have high mortality and poor prognosis. Our data suggest that haplo-HSCT, URD-HSCT and conditioning with TBI, but not the age and types of hematological diseases are the risk factors for development of CNS complications. Relapse and infections are the most common CNS complications in HSCT recipients. Early diagnosis and appropriate management are crucial to the improvement of clinical outcomes in these patients.
Asunto(s)
Trasplante de Células Madre Hematopoyéticas , Recurrencia Local de Neoplasia , Enfermedades Hematológicas , Neoplasias Hematológicas/terapia , HumanosRESUMEN
OBJECTIVE: To make through introduction of Wernicke's encephalopathy (WE) following hematopoietic stem cell transplantation (HSCT) in terms of clinical characteristics, diagnostic process and treatment. METHODS: The clinical charactaristics, diagnostic and therapeutic process and prognostic follow-up in 4 patients diagnosed of WE following HSCT between January 2016 to January 2017 at Department of Hematology, Chinese Aerospace Center Hospital were retrospectively analyzed. RESULTS: Four patients included 2 ALL and 2 AML, and 3 males and 1 female, their age ranged from 8 to 20 years old. 4 patients accouted for about 3% of all petients who received HSCT at that time. Typical triad syndrome consisting of ocular motility disorders, ataxia, global confusion was seen in only 1 patient. However, confusion and heterophthongia as onset of this complication were seen in all patients. Cerebral computed tomograph scan was universally unremarkable and useless. Cerebral MRI scan disclosed that typical involvement including thalamus, fourth ventricle, third ventricle, middle cerebral aqueduct was seen in 3, while untypical site including mamillary body was in the remaining 1 patient. All received vitamin B1 supplement therapy by intramuscular injection at a dose of 100 mg each day. Initial response was observed at 2, unknown, 3, 4 days after treatment and all obtained complete remission within 2 weeks without any event of relapse after median follow-up period of 8 (7-12) months. CONCLUSION: Any recipient of HSCT with clinical signs or symptoms of central nervous system should receive vitamin B1 supplementary therapy immediately to decrease risk of mortality of WE even if the diagnosis of WE is uncertain.
Asunto(s)
Encefalopatía de Wernicke , Adolescente , Niño , Femenino , Trasplante de Células Madre Hematopoyéticas , Humanos , Imagen por Resonancia Magnética , Masculino , Estudios Retrospectivos , Tiamina , Adulto JovenRESUMEN
BACKGROUND: Hand injuries are very common in sports, such as skiing and ball sports. One of the major reasons causing hand and finger deformity is due to ligament and tendon injury. The aim of this study was to investigate if the high-resolution 3T magnetic resonance imaging (MRI) can demonstrate the complex anatomy of the fingers and thumb, especially the tendons and ligaments, and provide the accurate diagnosis of clinically important fingers and thumbs deformity due to ligamentous and tendinous injuries during sport activities. METHODS: Sixteen fresh un-embalmed cadaveric hands were harvested from eight cadavers. A total of 20 healthy volunteers' hands and 44 patients with fingers or thumb deformity due to sports-related injuries were included in this study. All subjects had MR examination with T1-weighted images and proton density-weighted imaging with fat suppression (PD FS) in axial, coronal, and sagittal plane, respectively. Subsequently, all 16 cadaveric hands were sliced into 2-mm thick slab with a band saw (six in coronal plane, six in sagittal plane, and four in axial plane). The correlation of anatomic sections and the MRI characteristics of tendons of fingers and the ulnar collateral ligament (UCL) at the metacarpal phalangeal joint (MCPJ) of thumb between 20 healthy volunteers and 44 patients (confirmed by surgery) were analyzed. RESULTS: The normal ligaments and tendons in 16 cadaveric hands and 20 volunteers' hands showed uniform low-signal intensity on all the sequences of the MRI. Among 44 patients with tendinous and ligamentous injuries in the fingers or thumb, 12 cases with UCL injury at MCPJ of the thumb (Stener lesion = 8 and non-Stener lesion = 4), 6 cases with the central slip injury, 12 cases with terminal tendon injury, and 14 cases with flexor digitorum profundus injury. The ligaments and tendons disruption manifested as increased signal intensity and poor definition, discontinuity, and heterogeneous signal intensity of the involved ligaments and tendons. CONCLUSIONS: Sports injury-related fingers and thumb deformity are relatively common. MRI is an accurate method for evaluation of the anatomy and pathologic conditions of the fingers and thumb. It is a useful tool for accurate diagnosis of the sports-related ligaments and tendons injuries in hand.
Asunto(s)
Traumatismos en Atletas/diagnóstico , Deformidades de la Mano/diagnóstico , Traumatismos de los Tejidos Blandos/diagnóstico por imagen , Pulgar/anomalías , Adulto , Traumatismos en Atletas/cirugía , Femenino , Deformidades de la Mano/cirugía , Humanos , Ligamentos/diagnóstico por imagen , Ligamentos/cirugía , Imagen por Resonancia Magnética , Masculino , Articulación Metacarpofalángica/diagnóstico por imagen , Articulación Metacarpofalángica/cirugía , Persona de Mediana Edad , Traumatismos de los Tejidos Blandos/cirugía , Traumatismos de los Tendones/diagnóstico por imagen , Traumatismos de los Tendones/cirugía , Pulgar/cirugíaRESUMEN
BACKGROUND: The injury of the triangular fibrocartilage complex (TFCC) is a common cause of ulnar-sided wrist pain. The aim of this study was to investigate if the high-resolution 3T magnetic resonance imaging (MRI) could demonstrate the detailed complex anatomy of TFCC in Chinese. METHODS: Fourteen Chinese cadaveric wrists (from four men and three women; age range at death from 30 to 60 years; mean age at 46 years) and forty healthy Chinese wrists (from 20 healthy volunteers, male/female: 10/10; age range from 21 to 53 years with a mean age of 32 years) in Beijing Jishuitan Hospital from March 2014 to March 2016 were included in this study. All cadavers and volunteers had magnetic resonance (MR) examination of the wrist with coronal T1-weighted and proton density-weighted imaging with fat suppression in three planes, respectively. MR arthrography (MRAr) was performed on one of the cadaveric wrists. Subsequently, all 14 cadaveric wrists were sliced into 2 mm thick slab with band saw (six in coronal plane, four in sagittal plane, and four in axial plane). The MRI features of normal TFCC were analyzed in these specimens and forty healthy wrists. RESULTS: Triangular fibrocartilage, the ulnar collateral ligament, and the meniscal homolog could be best observed on images in coronal plane. The palmar and dorsal radioulnar ligaments were best evaluated in transverse plane. The ulnotriquetral and ulnolunate ligaments were best visualized in sagittal plane. The latter two structures and the volar and dorsal capsules were better demonstrated on MRAr. CONCLUSION: High-resolution 3T MRI is capable to show the detailed complex anatomy of the TFCC and can provide valuable information for the clinical diagnosis in Chinese.
Asunto(s)
Imagen por Resonancia Magnética/métodos , Fibrocartílago Triangular/diagnóstico por imagen , Articulación de la Muñeca/diagnóstico por imagen , Adulto , Estudios Transversales , Femenino , Humanos , Masculino , Persona de Mediana Edad , Fibrocartílago Triangular/anatomía & histología , Muñeca/anatomía & histología , Muñeca/diagnóstico por imagen , Articulación de la Muñeca/anatomía & histologíaRESUMEN
OBJECTIVE: To evaluate the efficacy of salvaged allogeneic hematopoietic stem cell transplantation (allo-HSCT) for refractory/recurrent acute myeloid leukemia (AML). METHODS: A total of 45 patients with refractory/recurrent AML were enrolled from September 2006 to April 2010. The median blasts in bone marrow (BM) were 36% (20% to 92%) before conditioning. The donors were identical siblings (6) or unrelated ones (9) or haploidentical family members (30). Conditioning regiments were individualized according to patients' status, the regimen with high-dose cytarabine plus BuCy/CY was mostly used (20). The patients with impaired organ function received above regimen except using fludarabine instead of cyclophosphamide (16). FLAG followed by reduced-intensified BuCy was employed for the recipients with more than 40% blasts in BM (6) to reduce leukemia burden. TBI/CY or TBI/Fludarabine was used for the recipients with extramedullary infiltration of leukemia or multidrug resistant leukemia. G-CSF, MTX, NVT, Vm26, Acla or Thaltipa was added into conditioning regiments according to leukemia character. RESULTS: All but 2 patients attained durable engraftment. The incidence of grade II to IV aGVHD and cGVHD were 34%, 59.1%, respectively. With median follow-up 30 (0.5 - 57) months, the relapse rate was 29.2%. Twenty-nine of 45 (60.2%) patients remained in complete remission since salvaged HSCT. Three-years disease-free survival and overall survival were 60.2% and 62.6%, respectively. CONCLUSION: Our results indicated that the combination of salvaged HSCT with prophylactic immunotherapy might be a promising modality for treatment of refractory/recurrent AML, even with high leukemia burden.
Asunto(s)
Trasplante de Células Madre Hematopoyéticas/métodos , Leucemia Mieloide Aguda/terapia , Acondicionamiento Pretrasplante/métodos , Adolescente , Adulto , Niño , Preescolar , Femenino , Humanos , Leucemia Mieloide Aguda/mortalidad , Persona de Mediana Edad , Recurrencia , Tasa de Supervivencia , Resultado del Tratamiento , Adulto JovenRESUMEN
OBJECTIVE: To determine MRI appearances of normal age-related cranial bone marrow and the relationship between MRI patterns and apparent diffusion coefficient (ADC) values. METHODS: Five hundred subjects were divided into seven groups based on ages. Cranial bone marrow MRI patterns were performed based on different thickness of the diploe and signal intensity distribution characteristics. ADC values of the frontal, parietal, occipital and temporal bones on DWI were measured and calculated. Correlations between ages and ADC values, between patterns and ADC values, as well as the distribution of ADC values were analyzed. RESULTS: Normal cranial bone marrow was divided into four types and six subtypes, Type I, II, III and IV, which had positive correlation with age increasing (χ2=266.36, P<0.01). The ADC values of normal parietal and occipital bone marrow showed significant negative correlation with age growing (r=-0.561 and -0.622, P<0.01), while there were no significant differences of that with age increasing in frontal and temporal bone marrow (P>0.05). In addition, there was significant negative correlation between the ADC values and MRI patterns in the normal parietal and occipital bones (r=-0.691 and -0.750, P<0.01). CONCLUSION: The combination of MRI features and ADC values changes in different cranial bones showed significant correlation with age increasing. Familiar with the MRI appearance of the normal bone marrow conversion pattern in different age group and their ADC value will aid the diagnosis and differential of the cranial bone pathology.
Asunto(s)
Médula Ósea/anatomía & histología , Imagen de Difusión por Resonancia Magnética/métodos , Cráneo/anatomía & histología , Adolescente , Adulto , Factores de Edad , Distribución de Chi-Cuadrado , Niño , Preescolar , Femenino , Humanos , Lactante , Masculino , Persona de Mediana Edad , Valores de ReferenciaRESUMEN
OBJECTIVE: To analyse the clinical features, diagnostic methods and risk factors of cytomegalovirus (CMV) enteritis after allogeneic hematopoietic stem cell transplantation (allo-HSCT). METHODS: Analysis was made on 24 cases of CMV enteritis after allo-HSCT in Beijing Daopei Hospital from Aug. 2007 to Jul. 2009, including clinical data, endoscopic diagnosis, histopathological and virological results, and the association between CMV enteritis with viremia and graft-versus-host disease(GVHD). RESULTS: 87.5% of the patients were over 18 years old. The median time to diagnosis of CMV enteritis was 63 days after HSCT. The mucosal lesions in enteroscopic examination had no significant differences between CMV enteritis and gastrointestinal GVHD complicated with the enteritis. The methods used in diagnosis included histopathology (32.1%) and virology (92.9%). The copies of CMVDNA in mucosal samples greater than 10(5)/10(6) PBNC was better diagnosis. A number of risk factors were compared between the survival and death groups: type of transplant, conditioning regimen, the time span of ganciclovir prophylaxis therapy, grade II-IV GVHD before enteritis, the time of diagnosis as GVHD, using MP > or = 1 mg/kg to treat GVHD, the time between GVHD and enteritis, CMV viremia before enteritis, the time of diagnosis as enteritis, CMVDNA quantitation, and there were no any statistic differences. CONCLUSION: Cytomegalovirus enteritis should be carefully diagnosed by histopathology and virology through endoscopic examination. It is better to undertake pan-colon endoscopy as well as terminal ileum examination for more accurate diagnosis. PCR can significantly improve the detection rate. CMVDNA detection in patients' stool may be helpful to diagnosis, especially for those patients who can not stand the endoscopy examination.
Asunto(s)
Infecciones por Citomegalovirus/etiología , Enteritis/etiología , Trasplante de Células Madre Hematopoyéticas/efectos adversos , Adolescente , Adulto , Citomegalovirus , ADN Viral/aislamiento & purificación , Enteritis/virología , Femenino , Enfermedad Injerto contra Huésped , Humanos , Masculino , Factores de Riesgo , Adulto JovenRESUMEN
This study was purposed to investigate the value of Histocheck and HLA-Matchmaker softwares in evaluating influence of HLA protein three dimensional conformation among individuals on outcome of unrelated donor hematopoietic stem cell transplantation (URHSCT). Data of the HLA-A/B/C/DRB1/DQB1 genotypes from 62 cases of URHSCT (HLA-allele 10/10 match 30 cases, 9/10 match 32 cases) were input into Histocheck and HLA-Matchmaker softwares respectively. The relationship between the software dissimilar scores and the 1 year overall survival (OS), incidence of aGVHD of III-IV grade and relapse rate was analyzed. The results showed that (1) with increase of the Histocheck scores, incidence of aGVHD of III-IV increased from 0% to 20% (p = 0.25), while no or mild aGVHD occurred in 70% cases with the high scores. For the relapsed cases, there was no significant difference between the cases with low scores and with highest scores (relapse rate 20%) except that 9 cases had no relapse in the group with higher score (11 - 20). (2) the analysis using HLA matchmaker software showed that incidence of aGVHD of III-IV grade increased with the increase of numbers of mismatch Eplets, arranging from 0% to 30%, the incidence of moderate aGVHD reduced (p = 0.019), whereas 60% cases in highest scores group had moderate aGVHD. No relapse occurred in the group with higher scores (≥ 3) (n = 10), whereas high relapse rate appeared in the lower score group (20%, p = 0.54). It is concluded that the value of Histocheck and HLA-Mtchmaker software for analysing the outcome of URHSCT may be similar despite of different calculating methods; for the certain pair of recipient and donor, correlation of the two score systems with incidence of aGVHD and relapse rate is similar, but with less accuracy; The HLA Matchmaker software appears better than Histocheck software in terms of correlation.
Asunto(s)
Antígenos HLA/genética , Trasplante de Células Madre Hematopoyéticas/métodos , Programas Informáticos , Donantes de Tejidos , Adolescente , Adulto , Alelos , Niño , Preescolar , Femenino , Genotipo , Enfermedad Injerto contra Huésped , Prueba de Histocompatibilidad , Humanos , Masculino , Conformación Proteica , Recurrencia , Adulto JovenRESUMEN
OBJECTIVE: To analyze the clinical and laboratory features of 9 cases of gammadeltaT cell lymphoma or leukemia. METHODS: From 2007 to 2011, 9 patients with gammadeltaT-cell lymphoma/leukemia were diagnosed in our hospital. The immunophenotype of the abnormal cells were detected by flow cytometry, clonal gene rearrangement of IgH, TCRgamma, TCRdelta by PCR, chromosome karyotype analysis by G banding, acute leukemia gene and the DNA of type 1 - 8 human herpes virus by multiple nested PCR, The gammadeltaT cells were determined by T cell with TCR gammadelta chain, the malignant gammadelta T cells by the abnormal expression of T cell antigens and the precursor malignant gammadelta T cells by the expression of CD34, TDT, CD99, CD1 a or acute leukemia genes. RESULTS: In the 9 patients with gammadeltaT cell lymphoma leukemia, significant malignant gammadeltaT cells infiltration of bone marrow were found in 8 with blast morphology. 5 were diagnosed as T-ALL/LBL (gammadeltaT type) and 4 HSgammadelta TCL. The clonal gene rearrangement of TCRgamma and/or TCRB were detected in 6/6 patients. Patients either did not achieve complete remission(CR) after induction therapy or relapsed quickly after CR. Only 4/5 patients remained continuous CR(CCR) at 2, 2, 3,12 months respectively, after allogeneic hematopoietic stem cell transplantation (allo-HSCT), the fifth T-ALL (gammadeltaT) relapsed 1 month after allo-HSCT. CONCLUSIONS: The incidence of gammadelta T cell lymphoma or leukemia may be higher than reported, part of them were T-ALL/LBL with poor prognoses. FCM and clonal gene rearrangement of TCRgamma and/or TCRdelta are helpful to diagnosis. Allo-HSCT may be the only curative approach.
Asunto(s)
Leucemia de Células T/genética , Linfoma de Células T/genética , Receptores de Antígenos de Linfocitos T gamma-delta/genética , Adolescente , Adulto , Femenino , Citometría de Flujo , Humanos , Inmunofenotipificación , Cariotipo , Leucemia de Células T/diagnóstico , Linfoma de Células T/diagnóstico , Masculino , Persona de Mediana Edad , Adulto JovenRESUMEN
This study was purposed to explore the influence of number and locus of HLA allele mismatch on unrelated donor hematopoietic stem cell transplantation (URHSCT) in Chinese Han population. Total 10 alleles within the HLA-A/B/C/DRB1/DQB1 loci were analyzed by PCR-SSP for 101 pairs of donor and recipients who received URHSCT. 101 cases of URHSCT were divided into four groups: HLA-allele 10/10 match (n = 30), 9/10 (n = 32), 8/10 (n = 31) and 7/10 match (n = 8). The correlation of the HLA with overall survival (OS ≥ 1 year), incidence of acute GVHD (aGVHD) of grade II to IV and relapse rate of primary diseases were evaluated. The results showed that (1) The OS rates in HLA-10/10 and 9/10 groups were higher than that in HLA-8/10 match group (78% and 82% vs 50%, p = 0.39); incidence of aGVHD in the HLA-10/10 were lower than that in HLA-9/10 and HLA-8/10 group (0% vs 10% and 10%; p = 0.28); relapse rates among the 3 groups were close (16%, 18% and 20%, respectively). Although there were only 8 cases in HLA-7/10 match URHSCT, the data indicated that they were safe and effective; (2) Compared to the HLA-10/10 match URHSCT (n = 30), the HLA-C mismatch URHSCT (n = 12) harbored higher incidence of severe aGVHD (0% vs 25%, p = 0.006), longer OS (77% vs 85%, p = 0.30), and tendency to low relapse rate (8% vs17%, p = 0.47); (3) According to HLA-C1/C2, the ligands of inhibitory KIR, the 42 cases of HLA-10/10 match URHSCT and HLA-C mismatch URHSCT were grouped into donor/recipient HLA-C1/C2 match and mis-match subgroups. There was no difference between the two subgroups for OS, incidence of aGVHD and relapse rate (78% vs 80%, 14% vs 20%, and 5% vs 20%). It is concluded that for 0 to 2 locus of HLA allele mismatch in URHSCT, the fewer mismatch numbers, the longer OS, but with similar aGVHD incidence and the relapse rate; triple HLA allele mismatch (HLA-7/10 match) is safe in URHSCT. The HLA-C mismatch may be related to higher incidence of aGVHD and lower relapse rate and prolonged OS, remaining to be further studied.
Asunto(s)
Antígenos HLA/genética , Trasplante de Células Madre Hematopoyéticas , Adolescente , Adulto , Alelos , Niño , Preescolar , Femenino , Enfermedad Injerto contra Huésped/epidemiología , Trasplante de Células Madre Hematopoyéticas/métodos , Trasplante de Células Madre Hematopoyéticas/mortalidad , Humanos , Masculino , Persona de Mediana Edad , Recurrencia , Tasa de Supervivencia , Adulto JovenRESUMEN
This study was aimed to analyze the clinical and cytogenetic characteristics of acute leukemia with 11q23/mll rearrangement and explore the reasonable therapeutic principles. Characteristics in general situation, morphology, immunology, molecular biology, cytogenetics, treatment and overall survival of 36 cases of acute leukemias with mll gene rearrangement were studied and analyzed. The results showed that 36 cases with mll gene rearrangement were found positive (7.2%) in 494 patients with acute leukemia. Among the 36 cases of mll rearrangement positive, 32 cases were diagnosed as acute myeloid leukemia (AML) with myeloid antigen expression, of which 5 cases expressed lymphoblastic differentiation antigen; 4 cases were classified as B-lineage acute lymphoblastic leukemia (ALL), of which non-lineage myeloid expression pattern were found in 3 cases. In 29 out of 36 cases (80%) the clonal chromosomal aberration were detected, of which chromosome 11 aberration were observed in 22 cases. All patients received chemotherapy with a total response rate of 47.2%. Of the responded patients, 10 cases relapsed within 6 months, with a recurrence rate of 40%; 9 cases received hematopoietic stem cell transplantation (HSCT), 7 cases of which survived after transplantation. The median survival time of 36 cases was 16 months (range 2 - 46) and their 2-year overall survival rate was 41.4%. The 2-year overall survival rate of 9 patients who received HSCT was 87.5%. It is concluded that acute leukemia patients with mll gene rearrangement show poor response to chemotherapy, high recurrence rate and poor prognosis. Hematopoietic stem cell transplantation may be a reasonable treatment principle to improve these patients' survival situation.
Asunto(s)
Leucemia/genética , Proteína de la Leucemia Mieloide-Linfoide/genética , Adolescente , Adulto , Anciano , Niño , Preescolar , Femenino , Trasplante de Células Madre Hematopoyéticas , N-Metiltransferasa de Histona-Lisina , Humanos , Lactante , Leucemia/clasificación , Leucemia/diagnóstico , Leucemia/terapia , Leucemia Mieloide Aguda/diagnóstico , Leucemia Mieloide Aguda/genética , Leucemia Mieloide Aguda/terapia , Masculino , Persona de Mediana Edad , Leucemia-Linfoma Linfoblástico de Células Precursoras/diagnóstico , Leucemia-Linfoma Linfoblástico de Células Precursoras/genética , Leucemia-Linfoma Linfoblástico de Células Precursoras/terapia , Pronóstico , Tasa de Supervivencia , Adulto JovenRESUMEN
The invasive fungal infections (IFI) in immunocompromised patients are associated with a high mortality rate and diagnostic difficulty. Serological methods such as aspergillus galactomannan assay (GM test) and (1, 3)-beta-D glucan (BG) assay (G test) can be used as an adjunctive method for IFI diagnosis based on their characteristics of easy-operating, rapidness and high sensitivity. Compared with GM test, G test can be more widely used except for the diagnosis of aspergillosis. The purpose of this study was to investigate the value of G test in the diagnosis of IFI in patients with hematological disorders. The plasma was collected from 162 suspected IFI patients with hematological disorders in Beijing Daopei Hospital, including 85 patients after chemotherapy and 77 patients after stem cell transplantation from May 2007 to May 2008, BG level was measured with MB-80 Microbiology Kinetic Rapid Reader and the measured results together with the clinical characteristics were retrospectively analyzed. According to the European Organization for Research and Treatment of Cancer/Mycoses Study Group (EORTC/MSG) criteria, there were 2 patients diagnosed as proven IFI, 18 as probable IFI, 75 as possible IFI and 67 as no IFI. The results showed that at a cutoff of 20 pg/ml, the sensitivity and specificity of G test were 75% and 91% respectively, with a positive predictive value (PPV) of 71.4% and a negative predictive value (NPV) of 92.4%. 51 out of the 75 possible IFI patients with elevated BG level were responsive to antifungal treatment but non responsive to broad-spectrum antibiotics, retrospectively were diagnosed as IFI, suggesting that G test improved the IFI diagnostic rate by 31.4%. In conclusion, G test is a rapid and simple method for early diagnosis of IFI in patients with hematological disorders.