Paroxysmal nocturnal hemoglobinuria in the differential diagnosis of thrombocytopenia

Paroxysmal nocturnal hemoglobinuria (PNH) is a disease which diagnosis may be delayed due to variable clinical findings. We describe herein a case of PNH in a 21 year old woman who admitted with complaints of chronic weakness, intermittent spontaneous ecchymoses, and an intermittent abdominal pain. On laboratory tests thrombocytopenia and iron deficiency anemia without any clinical findings were found. Flow cytometric evaluations showed a PNH clone of 15% for erythrocytes, 64% for monocytes, and 60% for granulocytes. The patient was diagnosed with PNH and an eculizumab therapy was initiated. Following initiation of eculizumab therapy, the frequency of abdominal pain attacks decreased, hemoglobin level normalized, and platelet values increased slightly. In patients submitting with a triad of symptoms such as thrombocytopenia, iron deficiency anemia, and abdominal pain attacks of unknown etiology we suggest considering PNH. We also encourage physicians to share their similar observations in order to raise the knowledge on infrequent presentations of PNH

BCR-ABL1-Negative Chronic Myeloproliferative Neoplasms and Pulmonary Hypertension: A Prospective Long-Term Follow-up Study of the Impact of Pulmonary Hypertension on Survival

WOS:000621041700024PubMed: 32919926This prospective study assessed the prevalence of pulmonary hypertension (PHT) related to chronic myeloproliferative neoplasms (CMPNs) and evaluated the impact of PHT on survival during long-term follow-up. in a large group of BCR-ABL1-negative CMPN patients, there was a low prevalence of PHT. The impact of PHT on survival was negligible. Purpose: To assess the prevalence of PHT in patients with BCR-ABL1-negative CMPN and to evaluate impact of PHT on survival during long-term follow-up. Patients and Methods: A total of 122 patients with BCP-ABL1-negative CMPN underwent transthoracic echocardiographic (TTE) evaluation at the beginning of study. Patients undergoing PHT on TTE examination were also evaluated by a pulmonologist. Patients were divided into 3 groups. Group A comprised patients with CMPN-related PHT; group B, patients with no PHT; and group C, patients with PHT due to secondary causes. Patients were evaluated again every 3 to 6 months. Results: PHT was detected in 33 (27%) of 122 patients. Eight (6.5%) had CMPN-related PHT and the remaining 25 (20.5%) had non-CMPN-related PHT. Positivity for JAK2 V617F mutation in the study population was 72.9%. Groups were similar with respect to hematologic parameters and gender. Follow-up times were as follows: median (range) time from diagnosis to TTE and study end were 34 (1-158) months and 107 (16-251) months, respectively, and from TTE to study end was 88 (7-110) months. No significant differences found among the groups in terms of median time from diagnosis to TIE, follow-up, and overall survival. Conclusion: BCR-ABL1-negative CMPN patients had a lower prevalence of PHT compared to earlier studies. There was no statistically significant difference in median overall survival between patients with or without PHT. This may be because patients with PHT were asymptomatic and PHT was mild. The impact of PHT on survival was negligible. (C) 2020 Elsevier inc. All rights reserved

FAS/FASL gene polymorphisms in Turkish patients with chronic myeloproliferative disorders

Introduction : Chronic myeloproliferative disorders (CMPD) are chronic myeloid hematological disorders, characterized by increased myeloid cell proliferation and fibrosis. Impaired apoptotic mechanisms, increased cell proliferation, uncontrolled hematopoietic cell proliferation and myeloaccumulation may contribute to the pathogenesis of CMPD. The aim of our study was to show the possible role of FAS/FASL gene polymorphisms in CMPD pathogenesis and investigate the association with clinical parameters and susceptibility to disease. Material and methods : We included 101 (34 polycythemia vera (PV), 23 primary myelofibrosis (PMF), 44 essential thrombocythemia (ET)) CMPD patients diagnosed according to the WHO classification criteria and 95 healthy controls in this study. All the patients and the controls were investigated for FAS/FASL gene expression, allele frequencies and phenotype features, and also FAS mRNA levels were analyzed. Results : Chronic myeloproliferative disorders patients showed increased FAS-670AG + GG genotype distribution compared with the control group (p G gene polymorphism and some clinical parameters such as splenomegaly and thrombosis (p > 0.05). No statistically significant difference in FASL+843C>T genotype or allele frequency was found between groups (p > 0.05). Moreover, no statistically significant difference was detected in FASL and JAK2V617F mutations (p > 0.05). FAS mRNA expression was 1.5-fold reduced in patients compared to healthy subjects. Conclusions : According to our findings, FAS/FASL gene expression may contribute to the molecular and immunological pathogenesis of CMPD. More investigations are needed to support these data

JAK2 V617F Mutation Status of 232 Patients Diagnosed With Chronic Myeloproliferative Neoplasms

The aim of this study was to investigate the presence of Janus kinase 2 (JAK2) V617F mutation in patients with BCR-ABL negative chronic myeloproliferative neoplasms (CMPNs) in our center. JAK2 V617F mutation frequencies in our PV and ET patients were similar to those reported previously. JAK2 V617F mutation frequency in our PMF patients was greater than in previous reports

Turkish Acute Lymphoblastic Leukemia Registry, Retrospective Phase Data

Background and Aim: Significant developments have occurred in clinical management of acute lymphoblastic leukemia (ALL) in adults over recent decades. However, treatment results are still not satisfactory especially in routine practice. The aim of the study was to evaluate the general clinical features, treatment details and outcomes of a large group of patients followed up in multiple centers in Turkey with a diagnosis of ALL