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Indian Journal of Pathology &... Mar 2024
PubMed: 38563691
DOI: 10.4103/ijpm.ijpm_365_23 -
Zhonghua Nei Ke Za Zhi Apr 2024To explore the variables associated with the severity of coronavirus disease 2019 (COVID-19) caused by the SARS-CoV-2 omicron variant during the epidemic in patients...
To explore the variables associated with the severity of coronavirus disease 2019 (COVID-19) caused by the SARS-CoV-2 omicron variant during the epidemic in patients with myeloproliferative neoplasms (MPN). A cross-sectional study. During the SARS-CoV-2 omicron variant pandemic from December 15, 2022, to March 15, 2023, COVID-19 related data for patients with MPN who were treated at Peking University People's Hospital were collected through an online questionnaire-based survey. All questionnaires and clinical data were checked by medical assistants. Logistic multivariate analysis was used to explore the prevalence and variables associated with the severity of COVID-19 in patients with MPN. A total of 239 patients with MPN, including 90 (37.7%) presenting with essential thrombocythemia (ET), 50 (20.9%) with polycythemia vera (PV), and 99 (41.4%) with myelofibrosis (MF), were enrolled in the study. The 99 patients with MF included 87 (87.9%) with primary MF, 5 (5.1%) with post-PV MF, and 7 (7.1%) with post-ET MF. Overall, 239 (100%) patients reported that they experienced COVID-19 during the pandemic. Of these, 226 (94.6%) had mild disease, 4 (1.7%) had moderate disease, 7 (2.9%) had severe disease, and 2 (0.8%) had critical disease. Two (0.8%) patients with severe COVID-19 died, one of which suffered from MT and the other from PV. Multivariate analysis showed that older age (=2.36, 95% 1.24-4.49), MF (=10.22, 95% 1.13-92.80), or comorbidity (=5.25, 95% 1.25-22.03) were associated with a significantly higher risk of developing moderate, severe, or critical COVID-19. Among patients with MF, higher risk stratification reflected an increased risk of developing moderate, severe, or critical COVID-19 (=0.034). During the omicron pandemic, older age, MF (especially higher-risk categories), and comorbidity were associated with a higher risk of developing moderate, severe, or critical COVID-19.
Topics: Humans; SARS-CoV-2; Cross-Sectional Studies; COVID-19; Myeloproliferative Disorders; Polycythemia Vera; Primary Myelofibrosis; Surveys and Questionnaires
PubMed: 38561282
DOI: 10.3760/cma.j.cn112138-20230822-00073 -
Hematology/oncology and Stem Cell... Mar 2024
Topics: Humans; Polycythemia Vera; Janus Kinase 2; Mutation; Primary Myelofibrosis; Exons
PubMed: 38560972
DOI: 10.56875/2589-0646.1121 -
Radiology Case Reports Jun 2024Extramedullary hematopoiesis represents a clinical compensatory condition characterized by the growth of hematopoietic tissue outside the bone marrow. It can mainly...
Extramedullary hematopoiesis represents a clinical compensatory condition characterized by the growth of hematopoietic tissue outside the bone marrow. It can mainly occur in patient with myeloproliferative disorders where alteration or neoplastic invasion of the bone marrow causes ineffective production of blood cells with the recruitment of progenitrix blood cells in non-hematopoietic organs, including kidneys. Renal extramedullary hematopoiesis is a rare condition manifesting as parenchymal or perirenal soft tissue masses with different patterns mimicking neoplasms, infectious or vascular diseases. We describe a unique case of a patient affected by primary myelofibrosis underwent ultrasound and magnetic resonance examinations showing bilateral perirenal alterations to be related to hemopoietic tissue. We also focused on the pathophysiology of this condition with imaging correlation. The case we present emphasises the importance of recognising the main radiological features of renal extramedullary hematopoiesis. MR examination should become part of the diagnostic pathway of the patient with primary myelofibrosis.
PubMed: 38559653
DOI: 10.1016/j.radcr.2024.02.083 -
Expert Opinion on Biological Therapy Apr 2024In patients with myelodysplastic syndromes (MDS), anemia is prevalent affecting 80%-85% of low-risk (LR-MDS) patients, with 40% eventually requiring red blood cell (RBC)... (Review)
Review
INTRODUCTION
In patients with myelodysplastic syndromes (MDS), anemia is prevalent affecting 80%-85% of low-risk (LR-MDS) patients, with 40% eventually requiring red blood cell (RBC) transfusions. Except forlenalidomide, exclusively approved for those with deletion of chromosome 5q,erythropoiesis-stimulating agents (ESAs) are the primary treatment choice for low-risk patients. Those unresponsive to ESAs face limited alternatives, eventually necessitating long-term RBC transfusions, leading to secondary iron overload and adversely affecting quality of life (QoL).
AREA COVERED
Luspatercept is a pioneering erythroid maturation agent. It received approval by both the European Medicines Agency (EMA) and the Food and Drug Administration (FDA) for treating adults experiencing transfusion-dependent anemia associated with LR-MDS or β-thalassemia. Recently, the FDA approved luspatercept as first- line therapy in patients with very low- to intermediate-risk MDS who require RBC transfusions and have not previously received ESAs. This review summarizes the historical impact of luspatercept intreating LR-MDS unresponsive to ESAs and illustrates its potential benefit asfrontline therapy in MDS and its employment in patients with myelofibrosis-induced anemia.
EXPERT OPINION
Luspatercept has revolutionized the therapeutic paradigm of LR-MDS, for which there was a limited therapeutic arsenal, especially in the setting of patients who did not respond or fail after ESA treatment.
Topics: Humans; Myelodysplastic Syndromes; Immunoglobulin Fc Fragments; Hematinics; Recombinant Fusion Proteins; Activin Receptors, Type II; Anemia; Erythrocyte Transfusion; Quality of Life
PubMed: 38555469
DOI: 10.1080/14712598.2024.2336086 -
Journal of Gastrointestinal and Liver... Mar 2024Polycythemia vera (PV) is one of the three BCR-ABL1-negative myeloproliferative neoplasms characterized by activating mutations in JAK2, which clinically presents as...
Polycythemia vera (PV) is one of the three BCR-ABL1-negative myeloproliferative neoplasms characterized by activating mutations in JAK2, which clinically presents as erythrocytosis and has an increased risk of both thromboembolic events and progression to myelofibrosis and acute myeloid leukemia. Splanchnic vein thrombosis is a rare manifestation of venous thromboembolism involving one or more abdominal vessels and is strongly associated with PV. We herein report a case in which hepatic infarction due to PV was saved by conservative treatment.
Topics: Humans; Polycythemia Vera; Hepatic Infarction; Primary Myelofibrosis; Venous Thrombosis
PubMed: 38554424
DOI: 10.15403/jgld-5379 -
Clinical Lymphoma, Myeloma & Leukemia Jul 2024Myelofibrosis is the most aggressive subtype among classical BCR::ABL1 negative myeloproliferative neoplasms. About 90% of cases are driven by constitutive activation of...
BACKGROUND
Myelofibrosis is the most aggressive subtype among classical BCR::ABL1 negative myeloproliferative neoplasms. About 90% of cases are driven by constitutive activation of 1 of 3 genes impacting the JAK/STAT pathway: JAK2, CALR, and MPL. Triple-negative myelofibrosis (TN-MF) accounts for only 5%-10% of cases and carries the worst outcomes. Little has been described about this subset of disease. Given the marked heterogeneity surrounding disease biology, clonal architecture, clinical presentation, and poor outcomes in TN-MF, identification of features of interest and assessment of treatment response are areas in need of further investigation.
PATIENTS AND METHODS
We collected and evaluated baseline clinical and molecular parameters from 626 patients with a diagnosis of myelofibrosis who presented to the H. Lee Moffitt Cancer Center in Tampa (Florida, US) between 2003 and 2021 and compared them based on presence or absence of the three classical phenotypic driver mutations.
RESULTS
A small proportion of patients (6%) harbored TN-MF which correlated with inferior outcomes, marked by a 4-year reduction in overall survival time compared to the non-TN cohort (mOS 37.4 months vs. 85.7 months; P = .009) and higher rates of leukemic transformation. More pronounced thrombocytopenia and anemia, lower LDH, EPO levels, as well as lower percentage of marrow blasts at baseline were more commonly seen in TN-MF (P < .05). Similarly, patients with TN-MF had higher risk disease per DIPSS+ and GIPSS. Mutations impacting RNA splicing, epigenetic modification and signaling, specifically SRSF2, SETBP1, IDH2, CBL, and GNAS, were more commonly seen among those lacking a classical phenotypic driver. The prevalence of co-mutant ASXL1/SRSF2 clones was significantly higher in TN-MF as was trisomy 8. TN patients had fewer responses (46.2% vs. 63.4%) and shorter duration of response to ruxolitinib.
CONCLUSION
TN-MF is invariably associated with significantly decreased survival and more aggressive clinical behavior with higher rates of leukemic transformation and shorter duration of response to ruxolitinib. Mutations impacting RNA splicing, epigenetic modification and signaling (SRSF2, SETBP1, IDH2, CBL, and GNAS) are more common in TN-MF, which likely drive its aggressive course and may account for suboptimal responses to JAK inhibition.
Topics: Humans; Primary Myelofibrosis; Male; Female; Middle Aged; Aged; Mutation; Adult; Treatment Outcome; Aged, 80 and over; Prognosis; Janus Kinase 2
PubMed: 38548563
DOI: 10.1016/j.clml.2024.03.001 -
Medicina (Kaunas, Lithuania) Mar 2024: Several polymorphisms have been described in various DNA repair genes. Nucleotide excision DNA repair (NER) detects defects of DNA molecules and corrects them to...
: Several polymorphisms have been described in various DNA repair genes. Nucleotide excision DNA repair (NER) detects defects of DNA molecules and corrects them to restore genome integrity. We hypothesized that the , , , and gene polymorphisms influence the appearance of myeloproliferative neoplasms (MPNs). : We investigated the 1496C>T (rs2228000, Ala499Val), 2920A>C (rs228001, Lys939Gln), 2251A>C (rs13181, Lys751Gln), -673C>T (rs3136038), 11985A>G (rs254942), and 3507G>C (rs17655, Asp1104His) polymorphisms by polymerase chain reaction-restriction fragment length polymorphism analysis in 393 MPN patients [153 with polycythemia vera (PV), 201 with essential thrombocythemia (ET), and 39 with primary myelofibrosis (PMF)] and 323 healthy controls. : Overall, we found that variant genotypes of 2251A>C were associated with an increased risk of MPN (OR = 1.54, 95% CI = 1.15-2.08, = 0.004), while -673C>T and 11985A>G were associated with a decreased risk of developing MPN (OR = 0.56, 95% CI = 0.42-0.76, < 0.001; and OR = 0.26, 95% CI = 0.19-0.37, < 0.001, respectively). : In light of our findings, 2251A>C polymorphism was associated with the risk of developing MPN and -673C>T and 11985A>G single nucleotide polymorphisms (SNPs) may have a protective role for MPN, while 1496C>T, 2920A>C, and 3507G>C polymorphisms do not represent risk factors in MPN development.
Topics: Humans; DNA-Binding Proteins; Genetic Predisposition to Disease; Neoplasms; Polymorphism, Single Nucleotide; Genotype; DNA Repair
PubMed: 38541232
DOI: 10.3390/medicina60030506 -
Cureus Feb 2024Hematopoiesis is an enormous and complex process. When the primary site of hematopoiesis fails to meet the requirements of the body in conditions like hemoglobinopathies...
Hematopoiesis is an enormous and complex process. When the primary site of hematopoiesis fails to meet the requirements of the body in conditions like hemoglobinopathies or myelofibrosis, various extramedullary sites take on the role of blood formation. Extramedullary hematopoiesis most commonly occurs in the liver, spleen, and lymph nodes and is rarely found in the thymus, heart, breast, adrenal glands, paravertebral regions, intraspinal tissue, and brain. Extramedullary hematopoiesis can mimic neoplasms in which symptoms are caused by the mass effect of the lesion. We report a rare case of a 41-year-old female patient with a fibrohematopoietic adrenal mass mimicking a neoplasm for which she underwent an adrenalectomy.
PubMed: 38523996
DOI: 10.7759/cureus.54598 -
Blood Cancer Journal Mar 2024
Topics: Humans; Primary Myelofibrosis; Longevity; Mutation; Benzamides; Calreticulin; Janus Kinase 2; Pyrimidines
PubMed: 38503764
DOI: 10.1038/s41408-024-01028-4