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to: Retrospective analysis of pacritinib in patients with myelofibrosis and severe thrombocytopenia.Haematologica Apr 2024
PubMed: 38562076
DOI: 10.3324/haematol.2023.284815 -
Acta Medica Indonesiana Jan 2024A 44-year-old female presented with a distended abdomen and fatigue. On physical examination, prominent splenomegaly was found. The laboratory investigations revealed...
A 44-year-old female presented with a distended abdomen and fatigue. On physical examination, prominent splenomegaly was found. The laboratory investigations revealed pancytopenia and decreased albumin-globulin ratio. The abdominal ultrasonography revealed splenomegaly, cholelithiasis, and cystitis, and the bone survey showed osteopenia. Differential diagnoses included leukemia, multiple myeloma, and myelofibrosis therefore bone marrow puncture was performed. However, histopathologic examination found Gaucher-like cells in the bone marrow aspiration. The finding of CD68 positivity in Gaucher-like cells by using the immunohistochemistry staining supporting Gaucher disease. To confirm the diagnosis, an examination of glucocerebroside substrate from the patient's blood plasma was performed. Glucosylsphingosine, a deacylated form of glucosylceramide, was markedly elevated. Therefore, the diagnosis of Gaucher disease was confirmed. This is the first reported adult Gaucher case diagnosed in Indonesia.
Topics: Adult; Female; Humans; Gaucher Disease; Splenomegaly; Indonesia; Pancytopenia; Diagnosis, Differential
PubMed: 38561877
DOI: No ID Found -
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 -
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 Mar 2024Historically, therapeutic clinical trials in myelofibrosis have predominantly focused on targeting patients with higher-risk disease who are at risk of increased... (Review)
Review
Historically, therapeutic clinical trials in myelofibrosis have predominantly focused on targeting patients with higher-risk disease who are at risk of increased morbidity and mortality. The endpoints have been designed to target regularly measured disease parameters that are of immediate pertinence to patient's welfare including splenic volume reduction and symptom reduction. These efforts have resulted in meaningful and measurable improvements in disease parameters in these high-risk study populations and multiple FDA approved agents. However, they have not tackled specific interventions that may be applied to patients with earlier or less advanced disease state. In this review, we summarize evidence from completed and ongoing clinical trials investigating different aspects of intervention targeted at less advanced disease and advocate for the merit of this approach.
PubMed: 38553341
DOI: 10.1016/j.clml.2024.02.015 -
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 -
HemaSphere Mar 2024
PubMed: 38510992
DOI: 10.1002/hem3.60 -
Blood Advances May 2024Cytoreductive therapy is not routinely recommended for younger patients with polycythemia vera (PV) due to concern that treatment toxicity may outweigh therapeutic... (Meta-Analysis)
Meta-Analysis
Cytoreductive therapy is not routinely recommended for younger patients with polycythemia vera (PV) due to concern that treatment toxicity may outweigh therapeutic benefits. However, no systematic data support this approach. To support objective risk/benefit assessment of cytoreductive drugs in patients with PV aged <60 years (PV<60), this systematic review and meta-analysis was conducted to evaluate toxicity and disease-related complications in PV<60 treated with interferon alfa (rIFN-α) or hydroxyurea (HU). A search of PubMed, Scopus, Web of Science and Embase identified 693 unique studies with relevant keywords, of which 14 met inclusion criteria and were selected for analysis. The weighted average age of patients treated with rIFN-α was 48 years (n = 744 patients; 12 studies) and for HU was 56 years (n = 1397; 8 studies). The weighted average duration of treatment for either drug was 4.5 years. Using a Bayesian hierarchical model, the pooled annual rate of discontinuation due to toxicity was 5.2% for patients receiving rIFN-α (n = 587; 95% confidence interval [CI], 2.2-8.2) and 3.6% for HU (n = 1097; CI, 1-6.2). The average complete hematologic response for rIFN-α and HU was 62% and 52%, respectively. Patients experienced thrombotic events at a pooled annual rate of 0.79% and 1.26%; secondary myelofibrosis at 1.06% and 1.62%; acute myeloid leukemia at 0.14% and 0.26%; and death at 0.87% and 2.65%, respectively. No treatment-related deaths were reported. With acceptable rates of nonfatal toxicity, cytoreductive treatment, particularly with disease-modifying rIFN-α, may benefit PV<60. Future randomized trials prioritizing inclusion of PV<60 are needed to establish a long-term benefit of early cytoreductive treatment in these patients.
Topics: Humans; Polycythemia Vera; Treatment Outcome; Interferon-alpha; Hydroxyurea; Adult; Middle Aged; Cytoreduction Surgical Procedures; Age Factors
PubMed: 38507746
DOI: 10.1182/bloodadvances.2023012459 -
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