Your browser doesn't support javascript.
loading
Show: 20 | 50 | 100
Results 1 - 19 de 19
Filter
1.
Chinese Journal of Hematology ; (12): 276-283, 2023.
Article in Chinese | WPRIM | ID: wpr-984615

ABSTRACT

Objective: To evaluate the clinical characteristics and prognostic factors of patients with Philadelphia-negative myeloproliferative neoplasm-accelerated phase/blast phase (MPN-AP/BP) . Methods: A total of 67 patients with MPN-AP/BP were enrolled from February 2014 to December 2021 at the Institute of Hematology and Blood Diseases Hospital, Chinese Academy of Medical Sciences. Their clinical features and prognostic factors were analyzed retrospectively. Results: ① Sixty-seven patients with MPN-AP/BP with a median age of 60 (range, 33-75) years, including 31 males (46.3% ) and 36 females (53.7% ) , were analyzed. Forty-eight patients progressed from primary myelofibrosis (PMF) , and 19 progressed from other myeloproliferative neoplasms (MPNs) , which included polycythemia vera, essential thrombocythemia, and MPN unclassifiable. Patients who progressed from PMF had higher lactate dehydrogenase (LDH) levels than those who progressed from other MPNs (925.95 vs. 576.2 U/L, P=0.011) , and there were higher proportions of patients who progressed from PMF with splenomegaly (81.4% vs. 57.9% , P=0.05) , a myelofibrosis grade of ≥2 (93.6% vs. 63.2% , P=0.004) , and a shorter duration from diagnosis to the transformation to AP/BP (28.7 vs. 81 months, P=0.001) . ② JAK2V617F, CALR, and MPLW515 were detected in 41 (61.2% ) , 13 (19.4% ) , and 3 (4.5% ) patients, respectively, whereas 10 (14.9% ) patients did not have any driver mutations (triple-negative) . Other than driver mutations, the most frequently mutated genes were ASXL1 (42.2% , n=27) , SRSF2 (25% , n=16) , SETBP1 (22.6% , n=15) , TET2 (20.3% , n=13) , RUNX1 (20.3% , n=13) , and TP53 (17.2% , n=11) . The ASXL1 mutation was more enriched (51.1% vs. 21.1% , P=0.03) , and the median variant allele fraction (VAF) of the SRSF2 mutation (median VAF, 48.8% vs. 39.6% ; P=0.008) was higher in patients who progressed from PMF than those who progressed from other MPNs. ③ In the multivariate analysis, the complex karyotype (hazard ratio, 2.53; 95% confidence interval, 1.06-6.05; P=0.036) was independently associated with worse overall survival (OS) . Patients who received allogeneic stem cell transplantation (allo-HSCT) (median OS, 21.3 vs. 3 months; P=0.05) or acute myeloid leukemia-like (AML-like) therapy (median OS, 13 vs. 3 months; P=0.011) had significantly better OS than those who received supportive therapy. Conclusion: The proportions of patients with PMF-AP/BP with splenomegaly, myelofibrosis grade ≥2, a higher LDH level, and a shorter duration from diagnosis to the transformation to AP/BP were higher than those of patients with other Philadelphia-negative MPN-AP/BP. The complex karyotype was an independent prognostic factor for OS. Compared with supportive therapy, AML-like therapy and allo-HSCT could prolong the OS of patients with MPN-AP/BP.


Subject(s)
Male , Female , Humans , Adult , Middle Aged , Aged , Blast Crisis/drug therapy , Primary Myelofibrosis/genetics , Prognosis , Splenomegaly , Retrospective Studies , Myeloproliferative Disorders/genetics , Mutation , Leukemia, Myeloid, Acute , Janus Kinase 2/genetics
2.
Article in Chinese | WPRIM | ID: wpr-939693

ABSTRACT

OBJECTIVE@#To explore the relationship between clinical features, peripheral blood cell count, coagulation function, gene mutation and hemorrhagic events and thrombotic events in essential thrombocythemia (ET), polycythemia vera (PV), and primary myelofibrosis(PMF) patients.@*METHODS@#Clinical data of 78 patients with ET, PV, and PMF who were admitted to the Second Affiliated Hospital of Chongqing Medical University between September 2019 and August 2020 were retrospectively analyzed. Information about sex, age, gene mutation, peripheral blood cell count, coagulation function, and hemorrhagic and thrombotic events was included, and the influence of these data on the occurrence of hemorrhagic and thrombotic events was estimated.@*RESULTS@#Among the 78 patients with myeloproliferative neoplasms, there were 47 cases of ET, 15 cases of PV, and 16 cases of PMF.A total of 10 patients (12.82%) experienced hemorrhagic events and 27 (34.62%) experienced thrombotic events. Male,patients aged ≥ 60 years, and patients with a JAK2V617F mutation were more likely to experience thrombotic events (P<0.05). Patients with thrombotic events had higher platelet (PLT) counts and fibrinogen (FIB) levels than patients without hemorrhagic-thrombotic events (P<0.05).White blood cell (WBC) count, red blood cell (RBC) count, hemoglobin (HGB) level, prothrombin time (PT), activated partial thromboplastin time (APTT), thrombin time (TT) and international normalized ratio (INR) showed no statistical difference between patients with thrombotic events and patients without hemorrhagic-thrombotic events (P>0.05). There was also no significant difference in the above-mentioned indexes between patients with hemorrhagic events and patients without hemorrhagic-thrombotic events (P>0.05). Among JAK2V617F positive myeloproliferative neoplasm patients, male patients were more likely to have thrombotic events (P<0.05), and patients with thrombotic events had higher platelet counts than those without hemorrhagic-thrombotic events (P<0.05). There was no significant difference in age, white blood cell count, red blood cell count, hemoglobin level, PT, APTT, FIB, TT or INR between patients with thrombotic events and patients without hemorrhagic-thrombotic events (P>0.05).@*CONCLUSION@#Sex, age, JAK2V617F mutation and platelet count have a certain value for predicting thrombosis in patients with myeloproliferative neoplasms.


Subject(s)
Humans , Male , Hemoglobins/genetics , Hemorrhage , Janus Kinase 2/genetics , Mutation , Myeloproliferative Disorders/genetics , Polycythemia Vera/genetics , Retrospective Studies , Thrombocythemia, Essential , Thrombosis
3.
Journal of Experimental Hematology ; (6): 1242-1246, 2021.
Article in Chinese | WPRIM | ID: wpr-888545

ABSTRACT

OBJECTIVE@#To explore the expression level of ETV6-ABL fusion gene in different cell populations in patients with myeloproliferative neoplasm (MPN) and therapeutic effect of tyrosine kinase inhibitor (TKI).@*METHODS@#A 42-year-old man who presented with fever, marked leukocytosis and chronic myelogenous leukemia (CML) like MPN was reported. ETV6-ABL fusion gene was detected by real-time PCR and confirmed by direct sequencing. ETV6-ABL mRNA expression in each cell population sorted from peripheral blood by flow cytometry was detected by real-time PCR.@*RESULTS@#ETV6-ABL fusion gene was found out in bone marrow cells and confirmed as type A by direct sequencing. ETV6-ABL fusion gene transcript level in polymorphonuclear cells was nearly 3.6-fold relative to that in total cells, which was significantly higher than that in T cell, B cell and monocyte subsets. The complete blood count (CBC) returned to normal level after treatment with imatinib (400 mg) daily for three months. After TKI treatment for 6 months, the ratio of ETV6-ABL/ABL decreased from 174.1% to 1.9%.@*CONCLUSION@#ETV6-ABL fusion gene positive MPN may have a CML clinical presentation and is sensitive to TKI. ETV6-ABL fusion gene is specifically expressed in polymorphonuclear cells.


Subject(s)
Adult , Humans , Male , Fusion Proteins, bcr-abl/genetics , Genes, abl , Hematopoietic Stem Cell Transplantation , Imatinib Mesylate , Leukemia, Myelogenous, Chronic, BCR-ABL Positive/genetics , Myeloproliferative Disorders/genetics
4.
Journal of Experimental Hematology ; (6): 1236-1241, 2021.
Article in Chinese | WPRIM | ID: wpr-888544

ABSTRACT

OBJECTIVE@#To analyze the comprehensive laboratory test data of BCR-ABL1 fusion gene and JAK2 V617F mutation co-expressed in myeloproliferative neoplasm (MPN) patients, and investigate its relative clinical significance.@*METHODS@#Data of 1 332 MPN patients were comprehensively analyzed, BCR-ABL1 (P190/P210/P230) fusion gene and JAK2 V617F mutation were detected by real time-polymerase chain reaction (RT-PCR) technique, the CALR, MPL, JAK2 12 and 13 exon mutations were detected by the First Generation Sequencing, the bone marrow cell morphology and pathological characteristics were evaluated by bone marrow smear and biopsy technique, the immune phenotypes of bone marrow cells were evaluated by flow cytometry, the chromosome karyotypes of bone marrow cells were analyzed by chromosome G banding technique.@*RESULTS@#Four of the 1 332 patients were found to have the co-existence of BCR-ABL1 fusion gene and the JAK2 V617F mutation, with a 0.3% incidence and a median age of 70 years old, including 2 cases of polycythemia vera, 1 case of primary myelofibrosis, and 1 case of chronic myeloid leukemia-accelerated phase. The clues of double positive genes of such patients at the time of initial diagnose could not be cued only by age, physical signs and cell morphology, they should be analyzed by comprehensive test data.@*CONCLUSION@#The co-existence of BCR-ABL1 fusion gene and JAK2 V617F mutation in the same case is a kind of disease with special clinical significance. The application of multiple detection methods can improve the detection of this disease, which is conducive to early detection, reasonable diagnosis and treatment by clinicians.


Subject(s)
Aged , Humans , Fusion Proteins, bcr-abl/genetics , Janus Kinase 2/genetics , Laboratories , Mutation , Myeloproliferative Disorders/genetics , Polycythemia Vera
5.
Journal of Experimental Hematology ; (6): 1540-1547, 2021.
Article in Chinese | WPRIM | ID: wpr-922292

ABSTRACT

OBJECTIVE@#To analyze the disease types, clinical manifestations, efficacy and outcome of JAK2 V617F and BCR-ABL double-mutant myeloproliferative neoplasms (MPN), and provide a reference for the diagnosis, treatment and prognosis of MPN.@*METHODS@#The clinical characteristics, diagnosis, therapeutic efficacy and outcome of JAK2 V617F and BCR-ABL double-mutant MPN were analyzed comprehensitively by combining a clinical case diagnosed and treated in our hospital with literature cases from CNKI and PubMed databases.@*RESULTS@#A total of 38 related literatures were retrieved from the two databases by searching "JAK2 V617F" and "BCR-ABL" as key words from 1990 to 2019, and 59 cases were involved. Among all the 60 cases, 41 were males (68.3%) with a median age of 61 (32-77) years old, while 19 were females (31.7%) with a median age of 58 (21-82) years old. The BCR-ABL fusion gene and JAK2 V617F mutation were found simultaneously in 21 cases (35%), 19 cases (31.7%) with JAK2 V617F mutation were found during the treatment of Philadelphia chromosome (Ph)-positive chronic myelogenous leukemia (CML). Ph@*CONCLUSION@#As cases of BCR-ABL and JAK2 V617F double-mutant MPN are reported, simultaneous detection of JAK2 V617F mutation and BCR-ABL fusion gene in MPN patients is necessary to avoid misdiagnosis and missed diagnosis.


Subject(s)
Adult , Aged , Aged, 80 and over , Female , Humans , Male , Middle Aged , Young Adult , Fusion Proteins, bcr-abl/genetics , Janus Kinase 2/genetics , Myeloproliferative Disorders/genetics , Polycythemia Vera , Thrombocythemia, Essential
6.
Journal of Experimental Hematology ; (6): 1533-1539, 2021.
Article in Chinese | WPRIM | ID: wpr-922291

ABSTRACT

OBJECTIVE@#To investigate the relationship between JAK2 gene mutation and clinical indicators in patients with myeloproliferative neoplasms (MPN).@*METHODS@#122 MPN patients in the Department of Hematology, Xiyuan Hospital, China Academy of Chinese Medical Sciences from September 2017 to January 2020 were retrospectively analyzed. The relationship between JAK2 gene mutation and sex, age, peripheral blood cell count, splenomegaly, and thrombosis and bleeding events were analyzed.@*RESULTS@#In 122 patients with MPN, the patients with polycythemia vera (PV) accounted for 36 (29.5%), the patients with essential thrombocythemia (ET) accounted for 56 (45.9%), the patients with myelofibrosis (MF) accounted for 30 (24.6%). The JAK2 gene mutation rate in MPN patients was 64.6% (79/122), and the JAK2 gene mutation rate in PV, ET and MF groups were 77.7% (28/36), 60.7% (34/56) and 56.7% (17/30), the JAK2 gene mutation rate of the patients in PV group was statistically significant as compared with those in the ET group (P<0.05). The hemoglobin (Hb) count of the patients in JAK2 gene mutation group was higher than those in wild-type group [(150.0±39.6)g/L vs (129.4±38.9)g/L, P<0.05]; the white blood cell (WBC) count of the patients in JAK2 gene mutation group was higher than those in the wild type group [(9.5±4.7)×10@*CONCLUSION@#The mutation rate of JAK2 gene in MPN patients is higher, and the mutation rate of JAK2 gene in PV patients is higher than that in ET and MF patients; JAK2 gene mutations in MPN patients are related to hemogram index; the incidence of splenomegaly is the highest in MF patients, and splenomegaly is related to the occurrence of JAK2 gene mutations in MF patients.


Subject(s)
Humans , Janus Kinase 2/genetics , Mutation Rate , Myeloproliferative Disorders/genetics , Polycythemia Vera , Retrospective Studies
7.
Article in Chinese | WPRIM | ID: wpr-880050

ABSTRACT

OBJECTIVE@#To deeply understand the clinical manifestation, laboratory examination characteristics, diagnosis and treatment of an eight p11 myeloproliferative syndrome (EMS) with rare phenotypes.@*METHODS@#The clinical and laboratory characteristics and the process of allogeneic hematopoietic stem cell transplantation (allo-HSCT) were summarized in 1 rare EMS case involving T/B/myeloid cells. Meanwhile, 2 similar cases in the previous literature were also discussed.@*RESULTS@#The bone marrow examination indicated that the patient with B-cell acute lymphocytic leukemia. The lymph node biopsy showed that the patient was T lymphoblastic/myeloid lymphoma. The 8p11 abnormality was found by the examination of bone marrow chromosomes. The RT-PCR examination showed that the BCR-ABL fused gene was negtive. The FGFR1 breakage was found by using the FISH with FGFR1 probe in lymph node. The Mutation of FMNL3, NBPF1 and RUNX1 genes was found by using the whole exome sequencing. The patient received allo-HSCT under CR2. By the follow-up till to September 2019, the patient survived without the above-mentioned disease.@*CONCLUSION@#EMS manifest as neoplasms involving T-lineage, B-lineage, and myeloid-lineage simultaneously is extremely rare. Although the FGFR1 gene-targeted therapy can be conducted, allo-HSCT should be actively considered.


Subject(s)
Humans , Bone Marrow , Chromosomes, Human, Pair 8 , Formins , Hematologic Neoplasms , Myeloproliferative Disorders/genetics , Phenotype , Receptor, Fibroblast Growth Factor, Type 1/genetics , Translocation, Genetic
8.
Journal of Experimental Hematology ; (6): 1869-1874, 2021.
Article in Chinese | WPRIM | ID: wpr-922215

ABSTRACT

OBJECTIVE@#To investigate the overview of thrombosis in myeloproliferative neoplasms(MPN) patients, and to explore the risk factors of thrombosis at diagnosis and during follow-up.@*METHODS@#The clinical data of 388 MPN patients treated in our hospital were collected. The patients were followed up by outpatient and phone. The risk factors of thrombosis were analyzed by statistical methods.@*RESULTS@#Among 388 MPN patients, 161 patients (41.49%) showed thromboses at diagnosis or during follow-up. Among them, 92.55% were arterial thromboses, 146 cases (96.27%) were complicated with thromboses at diagnosis, and 36 cases (11.46%) showed newly thromboses or progression of previous thromboses among the 314 received full follow-up patients. Age (P<0.001, HR:1.033, 95%CI:1.016-1.051), JAK2V617F mutation (P=0.037, HR:1.72, 95%CI: 1.033-2.862), hypertension (P<0.001, HR:2.639, 95%CI:1.659-4.197) and hyperlipidemia (P<0.001, HR:2.659, 95%CI:1.626-4.347) were the independent risk factors affecting thrombosis at diagnosis of the patients. During the follow-up, age (P=0.016, HR:1.032, 95%CI: 1.006-1.059) and previous thrombosis history (P=0.019, HR:2.194, 95%CI: 1.135-4.242) were the independent risk factors affecting the progression of thrombosis at different sites or on the basis of the previous thrombosis in the patients.@*CONCLUSION@#Patients with advanced age, JAK2V617F mutation or complicated with hypertension and hyperlipidemia shows a higher risk of thrombosis at diagnosis, while the patients with advanced age or previous thrombosis history shows a higher risk of progression of thrombosis during the follow-up.


Subject(s)
Humans , Myeloproliferative Disorders/genetics , Neoplasms , Philadelphia Chromosome , Risk Factors , Thrombosis
9.
Journal of Experimental Hematology ; (6): 1998-2003, 2020.
Article in Chinese | WPRIM | ID: wpr-880005

ABSTRACT

OBJECTIVE@#To evaluate the proformance of multiplex PCR and capillary electrophoresis(MPCE) in the detection of JAK2V617F and CALR mutation in myeloproliferative neoplasms(MPN).@*METHODS@#The specificity primers of JAK2617F gene mutation and the primers of CALR gene were designed at the same time. The JAK2V617F and CALR gene primers were labeled with Cy5 fluorescence, all the primers were mixed in one tube for multiplex PCR and the PCR prodcuts were analysised by capillary electrophoresis. Then detection limit and sensitivity of MPCE were evaluated, and compared with comercial diagnostic kit.@*RESULTS@#JAK2V617F and CALR gene mutations could be detect by MPCE in one PCR test. JAK2V617F mutation could be detected at 0.01 ng genomic DNA, double positive JAK2V617F and CLAR gene mutations could be detected at 0.1 ng genomic DNA, at least 0.1% JAK2V617F positive mutation could be detected. The consistency between MPCE and commercial diagnostic gene mutation kit was 100%.@*CONCLUSION@#It is developed that a new gene mutation detection method of JAK2 V617F and CLAR gene based on MPCE in our experiment and it can be used as a new reagent for molecular diagnosis of MPN patients.


Subject(s)
Humans , Calreticulin/genetics , Electrophoresis, Capillary , Janus Kinase 2/genetics , Mutation , Myeloproliferative Disorders/genetics , Neoplasms , Patients , Polymerase Chain Reaction
10.
Bol. méd. Hosp. Infant. Méx ; 76(2): 87-94, mar.-abr. 2019. tab
Article in Spanish | LILACS | ID: biblio-1055272

ABSTRACT

Resumen Introducción: Los niños con trisomía 21 enfrentan una amplia gama de problemas en la región de la cabeza y el cuello, por lo cual es importante reconocer las manifestaciones otorrinolaringológicas que presentan, así como su apropiado manejo. Métodos: Estudio de serie de casos retrospectivo de pacientes pediátricos con trisomía 21. De cada caso se analizó el espectro de manifestaciones otorrinolaringológicas, el manejo establecido y los resultados. Resultados: Se incluyeron 171 niños. La edad media de la primera valoración por otorrinolaringología en la institución fue de 7.2 ± 4.2 años. Las manifestaciones otológicas más frecuentes fueron la estenosis del conducto auditivo externo y la disfunción de la trompa de Eustaquio. Más de la mitad de los pacientes (63 %) presentaron hipoacusia, principalmente de tipo conductivo bilateral, y hasta el 75 % de los pacientes con afectación otológica requirieron algún procedimiento quirúrgico. Las manifestaciones rinológicas más comunes fueron la rinosinusitis crónica y la rinitis alérgica. La apnea obstructiva del sueño estuvo presente en el 30% de los pacientes. El tratamiento principal fue la amigdalectomía, seguida del tratamiento con dispositivos de presión positiva de la vía aérea. Menos del 5 % de los pacientes presentaron un compromiso laríngeo. Conclusiones: Los pacientes pediátricos con trisomía 21 deben ser remitidos sistemáticamente a una evaluación otorrinolaringológica periódica, debido a la alta incidencia de manifestaciones en esta región. Se deben ofrecer tratamientos oportunos para mejorar su salud y calidad de vida.


Abstract Introduction: Children with trisomy 21 face a wide range of conditions in the head and neck region, for which it is important that physicians are aware and have a strong understanding of the ear, nose, and throat (ENT) disorders, and their management as well. Methods: Retrospective case series of pediatric patients with trisomy 21. The spectrum of otolaryngological manifestations, their management, and outcomes of each case were analysed. Results: One hundred and seventeen pediatric patients were included. The mean age was 7.2 ± 4.2 years. More than half of the patients (63 %) had hearing loss (HL). The most frequent presentation was conductive HL, predominating the mild and bilateral type. The most common otological manifestations found were external ear canal stenosis and Eustachian tube dysfunction. Up to 75 % of the patients with otologic involvement required some surgical procedure. The most common rhinological manifestations were chronic rhinosinusitis and allergic rhinitis. Obstructive sleep apnea (OSA) was present in 30% of all patients, which main treatment was tonsillectomy, followed by continuous positive and biphasic positive airway pressure treatments. Less than 5 % of the patients presented a laryngeal compromise. Conclusions: Pediatric patients with trisomy 21 systematically should be referred to periodic ENT assessment due to the high incidence of manifestations in this region. Timely treatments should be offered in order to improve the health and the quality of life of the patient.


Subject(s)
Humans , Chromosomes, Human, Pair 7/genetics , Chromosome Deletion , In Situ Hybridization, Fluorescence , Hematologic Neoplasms/genetics , Karyotyping/methods , Myeloproliferative Disorders/genetics , Prognosis , Myelodysplastic Syndromes/diagnosis , Myelodysplastic Syndromes/genetics , Leukemia, Myeloid, Acute/diagnosis , Leukemia, Myeloid, Acute/genetics , Cohort Studies , Hematologic Neoplasms/diagnosis , Hematologic Neoplasms/pathology , Gene Frequency , Myeloproliferative Disorders/diagnosis , Myeloproliferative Disorders/pathology
11.
Braz. j. med. biol. res ; 52(2): e8194, 2019.
Article in English | LILACS | ID: biblio-984032

ABSTRACT

Cytogenetics is essential in myeloid neoplasms (MN) and pre-analytical variables are important for karyotyping. We assessed the relationship between pre-analytical variables (time from collection to sample processing, material type, sample cellularity, and diagnosis) and failures of karyotyping. Bone marrow (BM, n=352) and peripheral blood (PB, n=69) samples were analyzed from acute myeloid leukemia (n=113), myelodysplastic syndromes (n=73), myelodysplastic syndromes/myeloproliferative neoplasms (n=17), myeloproliferative neoplasms (n=137), and other with conclusive diagnosis (n=6), and reactive disorders/no conclusive diagnosis (n=75). The rate of unsuccessful karyotyping was 18.5% and was associated with the use of PB and a low number of nucleated cells (≤7×103/µL) in the sample. High and low cellularity in BM and high and low cellularity in PB samples showed no metaphases in 3.9, 39.7, 41.9, and 84.6% of cases, respectively. Collecting a good BM sample is the key for the success of karyotyping in MN and avoids the use of expensive molecular techniques.


Subject(s)
Humans , Male , Female , Adolescent , Adult , Middle Aged , Aged , Aged, 80 and over , Young Adult , Specimen Handling/methods , Myelodysplastic Syndromes/genetics , Bone Marrow Cells/pathology , Leukemia, Myeloid/genetics , Karyotyping/methods , Myeloproliferative Disorders/genetics , Specimen Handling/standards , Myelodysplastic Syndromes/diagnosis , Leukemia, Myeloid/diagnosis , Myeloproliferative Disorders/diagnosis
13.
Article in English | WPRIM | ID: wpr-36803

ABSTRACT

The genetic variant rs16754 of Wilms tumor gene 1 (WT1) has recently been described as an independent prognostic factor in AML patients. It is of great interest to test whether WT1 single nucleotide polymorphism can be used as a molecular marker in other types of cancer, to improve risk and treatment stratification. We performed sequencing analysis of exons 7 and 9 of WT1, which are known mutational hotspots, in a total of 73 patients with BCR-ABL1-negative myeloproliferative neoplasm (MPN) and 93 healthy controls. No previously reported WT1 mutations were identified in the present study. In Korean patients with BCR-ABL1-negative MPN, WT1 genetic variant rs16754 had no significant impact on clinical outcomes. We observed a significant difference in the allelic frequencies of WT1 rs16754 in Koreans between BCR-ABL1-negative MPN cases and healthy controls. Individuals carrying variant G alleles of WT1 rs16754 showed a relatively low prevalence of BCR-ABL1-negative MPN, compared with those carrying wild A alleles of WT1 rs16754 (Hazard ratio 0.10-0.65, P<0.05). Therefore, possession of the variant G allele of WT1 rs16754 may reduce the risk of developing BCR-ABL1-negative MPN.


Subject(s)
Adult , Aged , Aged, 80 and over , Female , Humans , Male , Middle Aged , Young Adult , Alleles , Asian People/genetics , Case-Control Studies , Exons , Fusion Proteins, bcr-abl/genetics , Gene Frequency , Genotype , Leukemia, Myeloid, Acute/pathology , Myeloproliferative Disorders/genetics , Polymorphism, Single Nucleotide , Prognosis , Proportional Hazards Models , Republic of Korea , Risk , Sequence Analysis, DNA , WT1 Proteins/genetics
14.
Clinics ; 68(1): 5-9, Jan. 2013. ilus, tab
Article in English | LILACS | ID: lil-665911

ABSTRACT

OBJECTIVE: The JAK2 46/1 haplotype has recently been described as a major contributing factor to the development of myeloproliferative neoplasm, whether positive or negative forthe JAK2 V617F mutation. The G allele, identified by a single-nucleotide polymorphism known as JAK2 rs10974944, is part of the JAK2 46/1 haplotype. The aim of this study was to verify the association between the presence of the G allele and the development of BCR-ABL-negative chronic myeloproliferative neoplasms in our population. METHODS: Blood and oral mucosa swab samples were obtained from 56 patients of two local Brazilian hospitals who had previously been diagnosed with BCR-ABL-negative chronic myeloproliferative neoplasms. Blood samples from 90 local blood donors were used as controls. The presence of the G allele was assessed using a PCR-RFLP assay after extracting DNA from the samples. RESULTS: The presence of the G allele was strongly associated with the presence of BCR-ABL-negative chronic myeloproliferative neoplasms (p = 0.0001; OR = 2.674; 95% CI = 1.630-4.385) in the studied population. CONCLUSION: In agreement with previous reports, the JAK2 46/1 haplotype, represented in this study by the presence of the G allele, is an important predisposing factor in the oncogenetic development of these neoplasms in our population.


Subject(s)
Aged , Aged, 80 and over , Female , Humans , Male , Middle Aged , Young Adult , Haplotypes/genetics , /genetics , Myeloproliferative Disorders/genetics , Brazil , Chi-Square Distribution , Chronic Disease , Fusion Proteins, bcr-abl/genetics , Gene Frequency , Mutation/genetics , Polymerase Chain Reaction , Polymorphism, Restriction Fragment Length/genetics , Sex Distribution
15.
Esculapio. 2013; 9 (1): 15-16
in English | IMEMR | ID: emr-143126

ABSTRACT

To document the impact of JAK2 mutation on hemoglobin [Hb] level in patients with IMF. Thirty five patients were studied out of which 19 were JAK2 positive and 16 were JAK2 negative. Sample collection technique was purposive non-probability sampling. Variations were observed among the studied JAK2 positive and JAK2 negative patients regarding hemoglobin level. In JAK2 positive and negative patients mean hemoglobin level was 10.6g/dl and 8.6g/dl respectively [p=0.29]. Due to the better hemoglobin level, patients with JAK2 mutation have less transfusion requirements and are partially protected against severe anemias compared to patients with no mutation.


Subject(s)
Primary Myelofibrosis/genetics , Myeloproliferative Disorders/genetics , Mutation , Hemoglobins/genetics , Blood Transfusion
16.
Article in English | IMSEAR | ID: sea-135604

ABSTRACT

Background & objectives: The Janus-associated Kinase-2 mutation JAK2 V617F in chronic myeloproliferative disorders (CMPDs) has been described as a frequent genetic event in majority of patients with polycythemia vera (PV), essential thrombocythemia (ET) and idiopathic myelofibrosis (IMF). Its frequency varies in different populations but there are no data from India. We therefore, looked for JAK2 V617F mutation in Indian patients with chronic myeloproliferative disorders. Methods: Mutation screening for JAK2 V617F in patients with polycythemia vera, essential thrombocythemia and idiopathic myelofibrosis was performed in 75 patients attending Haematology clinic in a tertiary care hospital in north India, by polymerase chain reaction and restriction enzyme-based assay. Results: JAK2 V617F mutation was found in 51 of 75 cases (68%) of CMPD, 82 per cent in PV, 70 per cent in ET and 52 per cent of IMF. The presence of JAK2 V617F mutation was associated with a higher haemoglobin level (P<0.05), a higher white blood cell count (P<0.01) and higher age (P<0.05). Interpretation & conclusion: The JAK2 V617F mutation was detected in 86 per cent of patients with CMPD disorders. Peripheral blood mutation screening for JAK2 V617F can be incorporated into the initial evaluation of patients suspected to have CMPD.


Subject(s)
Age Factors , Electrophoresis, Agar Gel , Genetic Predisposition to Disease/genetics , Hemoglobins/analysis , Humans , India/epidemiology , Janus Kinase 2/genetics , Leukocyte Count , Mutation, Missense/genetics , Myeloproliferative Disorders/epidemiology , Myeloproliferative Disorders/genetics , Polymerase Chain Reaction , Prevalence , Restriction Mapping , Statistics, Nonparametric
17.
Medical Sciences Journal of Islamic Azad University. 2010; 20 (1): 29-35
in Persian | IMEMR | ID: emr-105434

ABSTRACT

Detection of JAK2V617F mutation was widely used in the diagnosis and classification of myeloproliferative neoplasms. In this study, frequency of JAK2V617F mutation among Iranian patients with polycythemia vera [PV], essential thrombocythemia [ET] and primary myelofibrosis [PMF] was studied. In this basic study, blood samples of 174 patients with polycythemia vera [n=57], essential thrombocythemia [n=84] and primary myelofibrosis [n=33] were evaluated for JAK2V617F mutation. Genomic DNA was extracted from peripheral blood. After quality control of extracted DNA, the JAK2-V617F mutation was analyzed using allele-specific PCR. All PCR products were analyzed by polyacrylamide gel [5%] electrophoresis and silver staining. One hundred and eleven out of 174 patients [63.8%] were positive for the presence of the JAK2V617F mutation. Frequency of mutation was 82% [47/57] in PV, 57% [48/84] in ET and 48% [16/33] in PMF. This study showed that detection of JAK2-V617F mutation using allele-specific PCR lead to better diagnosis and treatment of Iranian patients with different MPNs


Subject(s)
Humans , Mutation , Myeloproliferative Disorders/genetics , Polycythemia Vera/genetics , Thrombocythemia, Essential/genetics , Primary Myelofibrosis/genetics , Alleles
SELECTION OF CITATIONS
SEARCH DETAIL