Detection of an activated JAK3 variant and a Xq26.3 microdeletion causing loss of PHF6 and miR-424 expression in myelodysplastic syndromes by combined targeted next generation sequencing and SNP array analysis.

doi:10.1016/j.prp.2014.02.006

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Detection of an activated JAK3 variant and a Xq26.3 microdeletion causing loss of PHF6 and miR-424 expression in myelodysplastic syndromes by combined targeted next generation sequencing and SNP array analysis.

Pathology, research and practice - 1 Jun 2014

Kunze Kristin, Gamerdinger Ulrike, Leßig-Owlanj Jacqueline, Sorokina Marina, Brobeil Alexander, Tur Mehmet Kemal, Blau Wolfgang, Burchardt Alexander, Käbisch Andreas, Schliesser Georg, Kiehl Michael, Rosenwald Andreas, Rummel Mathias, Grimminger Friedrich, Hain Torsten, Chakraborty Trinad, Bräuninger Andreas, Gattenlöhner Stefan

Abstract excerpt

Myelodysplastic syndromes (MDS) are hematopoietic disorders characterized by ineffective hematopoiesis and progression to acute leukemia. In patients ineligible for hematopoietic stem cell transplantation, azacitidine is the only treatment shown to prolong survival. However, with the availability of a growing compendium of cancer biomarkers and related drugs, analysis of relevant genetic alterations for...

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Identifiers

PMID: 24674452
DOI: 10.1016/j.prp.2014.02.006

Genes

JAK3
PHF6
APC
ATM
IDH1
KDR
KRAS
MET
MPL
NPM1
NRAS
PTPN11
STK11

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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