Recent advances in understanding the molecular pathogenesis of myelodysplastic syndromes

Austin G. Kulasekararaj; Azim M. Mohamedali; Ghulam J. Mufti

doi:10.1111/bjh.12435

Recent advances in understanding the molecular pathogenesis of myelodysplastic syndromes

Austin G. Kulasekararaj, Azim M. Mohamedali, Ghulam J. Mufti^*

^*Corresponding author for this work

Research output: Contribution to journal › Literature review › peer-review

38 Citations (Scopus)

Abstract

The advent of novel genomic sequencing technologies has aided the identification of somatically acquired genetic abnormalities up to 80% of myelodysplastic syndrome (MDS) patients. Novel recurrent genetic mutations in pathways such as RNA splicing, DNA methylation and histone modification and cohesion complexes, underscore the molecular heterogeneity seen in this clinically varied disease. Functional studies to establish a causative link between genomic aberrations and MDS biogenesis are still in their infancy. The deluge of this molecular information, once validated on a larger cohort, will be incorporated into prognostic systems and clinical practise, and also hopefully aid in MDS therapeutics, especially in guiding targeted therapy.

Original language	English
Pages (from-to)	587-605
Number of pages	19
Journal	British Journal of Haematology
Volume	162
Issue number	5
DOIs	https://doi.org/10.1111/bjh.12435
Publication status	Published - Sept 2013

Keywords

molecular pathogenesis
myelodysplastic syndromes
genomic sequencing
ACUTE MYELOID-LEUKEMIA
PROGNOSTIC SCORING SYSTEM
CHRONIC MYELOMONOCYTIC LEUKEMIA
ACQUIRED UNIPARENTAL DISOMY
NUCLEOTIDE POLYMORPHISM ANALYSIS
THERAPY-RELATED MYELODYSPLASIA
CHRONIC LYMPHOCYTIC-LEUKEMIA
METHYLTRANSFERASE GENE EZH2
JAK2 V617F MUTATION
DISEASE PROGRESSION

UN SDGs

This output contributes to the following UN Sustainable Development Goals (SDGs)

Access to Document

10.1111/bjh.12435

Cite this

@article{e581d3593a3543d8b11b8de2d21c7a01,

title = "Recent advances in understanding the molecular pathogenesis of myelodysplastic syndromes",

abstract = "The advent of novel genomic sequencing technologies has aided the identification of somatically acquired genetic abnormalities up to 80% of myelodysplastic syndrome (MDS) patients. Novel recurrent genetic mutations in pathways such as RNA splicing, DNA methylation and histone modification and cohesion complexes, underscore the molecular heterogeneity seen in this clinically varied disease. Functional studies to establish a causative link between genomic aberrations and MDS biogenesis are still in their infancy. The deluge of this molecular information, once validated on a larger cohort, will be incorporated into prognostic systems and clinical practise, and also hopefully aid in MDS therapeutics, especially in guiding targeted therapy.",

keywords = "molecular pathogenesis, myelodysplastic syndromes, genomic sequencing, ACUTE MYELOID-LEUKEMIA, PROGNOSTIC SCORING SYSTEM, CHRONIC MYELOMONOCYTIC LEUKEMIA, ACQUIRED UNIPARENTAL DISOMY, NUCLEOTIDE POLYMORPHISM ANALYSIS, THERAPY-RELATED MYELODYSPLASIA, CHRONIC LYMPHOCYTIC-LEUKEMIA, METHYLTRANSFERASE GENE EZH2, JAK2 V617F MUTATION, DISEASE PROGRESSION",

author = "Kulasekararaj, {Austin G.} and Mohamedali, {Azim M.} and Mufti, {Ghulam J.}",

year = "2013",

month = sep,

doi = "10.1111/bjh.12435",

language = "English",

volume = "162",

pages = "587--605",

journal = "British Journal of Haematology",

issn = "0007-1048",

publisher = "Wiley-Blackwell Publishing Ltd",

number = "5",

}

TY - JOUR

T1 - Recent advances in understanding the molecular pathogenesis of myelodysplastic syndromes

AU - Kulasekararaj, Austin G.

AU - Mohamedali, Azim M.

AU - Mufti, Ghulam J.

PY - 2013/9

Y1 - 2013/9

N2 - The advent of novel genomic sequencing technologies has aided the identification of somatically acquired genetic abnormalities up to 80% of myelodysplastic syndrome (MDS) patients. Novel recurrent genetic mutations in pathways such as RNA splicing, DNA methylation and histone modification and cohesion complexes, underscore the molecular heterogeneity seen in this clinically varied disease. Functional studies to establish a causative link between genomic aberrations and MDS biogenesis are still in their infancy. The deluge of this molecular information, once validated on a larger cohort, will be incorporated into prognostic systems and clinical practise, and also hopefully aid in MDS therapeutics, especially in guiding targeted therapy.

AB - The advent of novel genomic sequencing technologies has aided the identification of somatically acquired genetic abnormalities up to 80% of myelodysplastic syndrome (MDS) patients. Novel recurrent genetic mutations in pathways such as RNA splicing, DNA methylation and histone modification and cohesion complexes, underscore the molecular heterogeneity seen in this clinically varied disease. Functional studies to establish a causative link between genomic aberrations and MDS biogenesis are still in their infancy. The deluge of this molecular information, once validated on a larger cohort, will be incorporated into prognostic systems and clinical practise, and also hopefully aid in MDS therapeutics, especially in guiding targeted therapy.

KW - molecular pathogenesis

KW - myelodysplastic syndromes

KW - genomic sequencing

KW - ACUTE MYELOID-LEUKEMIA

KW - PROGNOSTIC SCORING SYSTEM

KW - CHRONIC MYELOMONOCYTIC LEUKEMIA

KW - ACQUIRED UNIPARENTAL DISOMY

KW - NUCLEOTIDE POLYMORPHISM ANALYSIS

KW - THERAPY-RELATED MYELODYSPLASIA

KW - CHRONIC LYMPHOCYTIC-LEUKEMIA

KW - METHYLTRANSFERASE GENE EZH2

KW - JAK2 V617F MUTATION

KW - DISEASE PROGRESSION

U2 - 10.1111/bjh.12435

DO - 10.1111/bjh.12435

M3 - Literature review

SN - 0007-1048

VL - 162

SP - 587

EP - 605

JO - British Journal of Haematology

JF - British Journal of Haematology

IS - 5

ER -

Recent advances in understanding the molecular pathogenesis of myelodysplastic syndromes

Abstract

Keywords

UN SDGs

Access to Document

Fingerprint

Cite this