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Ring sideroblasts in chronic phase of polycythemia vera identifies a subset of patients with an increased risk of progression to blast phase.

08:00 EDT 19th March 2019 | BioPortfolio

Summary of "Ring sideroblasts in chronic phase of polycythemia vera identifies a subset of patients with an increased risk of progression to blast phase."

Blast phase of PV is often associated with a complex karyotype (CK) and bilineage dysplasia. We hypothesized that BM morphologic abnormalities detected in the Chronic phase (CP) can identify patients with an increased risk of developing blast phase (BP). We also compared cases of BP PV to a group of acute myeloid leukemia cases with JAK2 mutation (AML-JAK2mut). We collected morphological, cytogenetics (CG), and molecular information at the time of diagnosis and at time of diagnosis of BP. We evaluate the presence of splicing factor mutations at BP. A total of 60/477 (12.5%) patients with diagnosis of BP of PV were identified, 17 of them had BM sample available during CP. Ten patients with PV CP were used as control group. We found that dyserythropoiesis during evolution were more frequent in patients who develop BP than in patients who remain in CP (13/17 vs. 3/10; P = .0402). Similarly, ring sideroblast (RS) increase during CP were more frequent in patients who develop BP (8/16 vs. 0/10. P = .0095). By ELN risk stratification for CG risk in BP all patients had adverse or intermediate risk; in AML-JAK2mut 2/11 patients (18%) had favorable as risk category. TP53 mutations were significantly more frequent in BP than in AML-JAK2mut (7/14 vs. 1/11, P = .0421). Mutation analysis for splicing factor at BP was performed on 13 patients. Only 2 patients with >15% RS had SRSF2 (2 patients) and SF3B1 (1 patient) mutations. The other patients were wild type. Dyserythropoiesis and the acquisition of RS precede other markers of disease progression to BP. CK and TP53 mutation are more frequent in BP than in AML-JAK2mut. SF3B1 mutations are rare in BP.

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Journal Details

This article was published in the following journal.

Name: Annals of diagnostic pathology
ISSN: 1532-8198
Pages: 45-48

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The phase of chronic myeloid leukemia following the chronic phase (LEUKEMIA, MYELOID, CHRONIC-PHASE), where there are increased systemic symptoms, worsening cytopenias, and refractory LEUKOCYTOSIS.

Clonal hematopoetic disorder caused by an acquired genetic defect in PLURIPOTENT STEM CELLS. It starts in MYELOID CELLS of the bone marrow, invades the blood and then other organs. The condition progresses from a stable, more indolent, chronic phase (LEUKEMIA, MYELOID, CHRONIC PHASE) lasting up to 7 years, to an advanced phase composed of an accelerated phase (LEUKEMIA, MYELOID, ACCELERATED PHASE) and BLAST CRISIS.

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The initial phase of chronic myeloid leukemia consisting of an relatively indolent period lasting from 4 to 7 years. Patients range from asymptomatic to those exhibiting ANEMIA; SPLENOMEGALY; and increased cell turnover. There are 5% or fewer blast cells in the blood and bone marrow in this phase.

A myeloproliferative disorder of unknown etiology, characterized by abnormal proliferation of all hematopoietic bone marrow elements and an absolute increase in red cell mass and total blood volume, associated frequently with splenomegaly, leukocytosis, and thrombocythemia. Hematopoiesis is also reactive in extramedullary sites (liver and spleen). In time myelofibrosis occurs.

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