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Updated: Apr 19, 2026
Comprehensive DNA Methylation Analysis Using a Methyl-CpG-binding Domain Capture-based Method in Chronic Lymphocytic Leukemia Patients
Published on: June 16, 2017
PDGFB hypomethylation is a favourable prognostic biomarker in primary myelofibrosis
Claudia Augello1, Umberto Gianelli2, Rossella Falcone3
1Department of Pathophysiology and Transplantation, Università degli Studi di Milano, Milano, Italy.
Abstract:
Primary myelofibrosis (PMF) is a myeloproliferative neoplasm characterised by the clonal proliferation of the haematopoietic precursors together with the progressive development of bone marrow fibrosis. This stromal alteration is an important clinical issue and specific prognostic markers are not currently available. In bone marrow biopsies from 58 PMF patients, we explored the methylation pattern of genes encoding cytokines involved in the stromal reaction, namely platelet-derived growth factor-beta (PDGFB), transforming growth factor-beta (TGFB) and basic fibroblast growth factor (FGF2). We also evaluated the methylation profile of the Long Interspersed Nucleotide Element 1 (LINE-1). PDGFB, FGF2 and LINE-1, but not TGFB, were significantly differently methylated in PMF compared to controls. Significantly, PDGFB hypomethylation (<16%) was correlated with a favourable PMF prognosis (grade of marrow fibrosis, p=0.03; International Prognostic Scoring Systems p=0.01 and Dynamic International Prognostic Scoring Systems, p=0.02). Although the basis of the association of PDGFB hypomethylation with favourable prognosis remains to be clarified, we speculate that hypomethylation in PMF could represent the effect of acquired somatic mutations in genes involved in epigenetic regulation of the genome.
Insights
Hypomethylation of platelet-derived growth factor-beta (PDGFB) in primary myelofibrosis (PMF) patients correlates with a favorable prognosis. This finding may offer new prognostic markers for this myeloproliferative neoplasm.
Area of Science:
- Hematology
- Oncology
- Epigenetics
Background:
- Primary myelofibrosis (PMF) is a myeloproliferative neoplasm characterized by bone marrow fibrosis.
- Current prognostic markers for PMF are limited, highlighting the need for novel indicators.
- Stromal alterations, including fibrosis, are key clinical features of PMF.
Purpose of the Study:
- To investigate the methylation patterns of genes involved in stromal reactions in PMF.
- To explore the potential of these methylation patterns as prognostic markers for PMF.
- To evaluate the methylation profile of Long Interspersed Nucleotide Element 1 (LINE-1) in PMF.
Main Methods:
- Analysis of bone marrow biopsies from 58 PMF patients and controls.
- Assessment of methylation patterns for platelet-derived growth factor-beta (PDGFB), transforming growth factor-beta (TGFB), and basic fibroblast growth factor (FGF2) genes.
- Evaluation of the methylation profile of LINE-1 repetitive elements.
Main Results:
- PDGFB, FGF2, and LINE-1 showed significantly different methylation in PMF patients compared to controls.
- TGFB methylation did not differ significantly between PMF patients and controls.
- PDGFB hypomethylation (<16%) was significantly correlated with a favorable PMF prognosis, including lower marrow fibrosis grade and better scores on International Prognostic Scoring Systems and Dynamic International Prognostic Scoring Systems.
Conclusions:
- Aberrant methylation of PDGFB, FGF2, and LINE-1 occurs in PMF.
- PDGFB hypomethylation serves as a potential prognostic marker for favorable outcomes in PMF patients.
- The underlying mechanisms for PDGFB hypomethylation and its association with favorable prognosis warrant further investigation, possibly involving somatic mutations in epigenetic regulators.
