primary myelofibrosis


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chronic idiopathic myelofibrosis

A chronic progressive condition characterised by panmyelosis and variable marrow fibrosis, massive splenomegaly secondary to extramedullary haematopoiesis, and leukoerythroblastic anaemia with dysmorphic red blood cells, circulating normoblasts, immature white blood cells and atypical platelets.
 
Clinical findings
Patients are often > age 50, suffer from insidious weight loss, anaemia, and abdominal discomfort due to splenomegaly, often with hepatomegaly; 80% have nonspecific chromosome defects.
 
Diagnosis
Bone marrow biopsy.
 
Management
No specific therapy; packed RBCs for anaemia; androgens may reduce transfusion requirements, but are poorly tolerated in women; recombinant erythropoietin.
 
Prognosis
Survival ± 5 years, often progresses to acute leukaemia.

Terminology
No name used for this condition has proven consistently satisfactory to those who work in the field. Chronic idiopathic myelofibrosis is preferred by the World Health Organisation, while others prefer the term primary myelofibrosis. None of the terms fully take into account the functional defects—e.g., haemopoietic stem cell disturbance, extramedullary haemopoiesis and the pathological changes seen in the bone marrow (e.g., intense marrow fibrosis).
References in periodicals archive ?
JAKARTA is a pivotal phase 3, multicenter, randomized, double-blind, placebo-controlled trial evaluating the efficacy of daily oral doses (400 mg or 500 mg) of fedratinib compared with placebo in patients with intermediate-2 or high-risk primary myelofibrosis, post-polycythemia vera myelofibrosis or post-essential thrombocythemia myelofibrosis with splenomegaly.
Disorders altering the myeloid elements include the following disorders: Polycythemia vera (PV), essential thrombocythemia (ET), primary myelofibrosis (PMF), chronic myelogenous leukemia (CML), chronic neutrophilic leukemia (CNL), hypereosinophilic leukemia/CEL, CMML, and mast cell disease.
Relative fluorescence intensity of myelofibrosis sections (primary myelofibrosis and acute monocytic leukemia with reticulin myelofibrosis) without 4',6-diamidino-2-phenylindole (DAPI) staining in 488-, 561-, and 633-nm channels, with that in 405-nm channel used as control.
Thrombospondin-1 (TSP-1) in primary myelofibrosis (PMF)--A megakaryocyte-derived biomarker which largely discriminates PMF from essential thrombocythemia.
V617F mutation arises in 95% of polycythemia vera, 50-60% of essential thrombocythemia and 30-50% of primary myelofibrosis patients.4,10,12 Majority of PV patients (95%) show V617F mutation while the remaining cases (5%) of PV exhibits Jak2 gene exon 12 mutation.10
Due to the presence of pleural effusion, in combination with RBBB and respiratory alkalosis in a patient with underlying procoagulant condition (primary myelofibrosis), a computerized tomography of pulmonary vessels was performed, which excluded the presence of pulmonary embolism/thrombosis.
October 2016: Diagnosis of primary myelofibrosis with transfusion dependent anemia, thrombocytopenia, and leukopenia.
A diagnosis of paediatric primary myelofibrosis was made on biopsy.
Primary myelofibrosis (PMF) is a myeloproliferative neoplasm characterized by abnormal proliferation of megakaryocytes, bone marrow fibrosis, and extramedullary hematopoiesis.
(1) Between 90% and 98% of patients with polycythemia vera and about 50% of patients with essential thrombocythemia (ET) and primary myelofibrosis (PMF) harbor the JAK2V617F mutation.
In the classical Philadelphia chromosome-negative myeloproliferative neoplasms, several lines of evidence link ASXL1 mutations with BM fibrosis: ASXL1 mutations are associated with a higher degree of BM fibrosis in primary myelofibrosis [31]; ASXL1 mutations are associated with an increased risk of myelofibrotic transformation in patients with essential thrombocythemia and polycythemia vera [32]; and ASXL1 mutations are more frequently detected in overt as opposed to prefibrotic primary myelofibrosis [33].
Adam was diagnosed on July 1st of this year with a rare - and terminal - type of blood cancer (primary myelofibrosis).

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