Skov, Vibe, Burton, Mark, Thomassen, Mads, Larsen, Thomas Stauffer, Riley, Caroline H., Madelung, Ann Brinch, Kjaer, Lasse, Bondo, Henrik, Stamp, Inger, Ehinger, Mats, Dahl-Sorensen, Rasmus, Brochmann, Nana, Nielsen, Karsten, Thiele, Juergen, Jensen, Morten K., Bjerrum, Ole Weis, Kruse, Torben A. and Hasselbalch, Hans Carl (2016). A 7-Gene Signature Depicts the Biochemical Profile of Early Prefibrotic Myelofibrosis. PLoS One, 11 (8). SAN FRANCISCO: PUBLIC LIBRARY SCIENCE. ISSN 1932-6203

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Abstract

Recent studies have shown that a large proportion of patients classified as essential thrombocythemia (ET) actually have early primary prefibrotic myelofibrosis (prePMF), which implies an inferior prognosis as compared to patients being diagnosed with so-called genuine or true ET. According to the World Health Organization (WHO) 2008 classification, bone marrow histology is a major component in the distinction between these disease entities. However, the differential diagnosis between them may be challenging and several studies have not been able to distinguish between them. Most lately, it has been argued that simple blood tests, including the leukocyte count and plasma lactate dehydrogenase (LDH) may be useful tools to separate genuine ET from prePMF, the latter disease entity more often being featured by anemia, leukocytosis and elevated LDH. Whole blood gene expression profiling was performed in 17 and 9 patients diagnosed with ET and PMF, respectively. Using elevated LDH obtained at the time of diagnosis as a marker of prePMF, a 7-gene signature was identified which correctly predicted the prePMF group with a sensitivity of 100% and a specificity of 89%. The 7 genes included MPO, CEACAM8, CRISP3, MS4A3, CEACAM6, HEMGN, and MMP8, which are genes known to be involved in inflammation, cell adhesion, differentiation and proliferation. Evaluation of bone marrow biopsies and the 7-gene signature showed a concordance rate of 71%, 79%, 62%, and 38%. Our 7-gene signature may be a useful tool to differentiate between genuine ET and prePMF but needs to be validated in a larger cohort of ET patients.

Item Type: Journal Article
Creators:
CreatorsEmailORCIDORCID Put Code
Skov, VibeUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Burton, MarkUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Thomassen, MadsUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Larsen, Thomas StaufferUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Riley, Caroline H.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Madelung, Ann BrinchUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Kjaer, LasseUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Bondo, HenrikUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Stamp, IngerUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Ehinger, MatsUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Dahl-Sorensen, RasmusUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Brochmann, NanaUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Nielsen, KarstenUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Thiele, JuergenUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Jensen, Morten K.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Bjerrum, Ole WeisUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Kruse, Torben A.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Hasselbalch, Hans CarlUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
URN: urn:nbn:de:hbz:38-266155
DOI: 10.1371/journal.pone.0161570
Journal or Publication Title: PLoS One
Volume: 11
Number: 8
Date: 2016
Publisher: PUBLIC LIBRARY SCIENCE
Place of Publication: SAN FRANCISCO
ISSN: 1932-6203
Language: English
Faculty: Unspecified
Divisions: Unspecified
Subjects: no entry
Uncontrolled Keywords:
KeywordsLanguage
ESSENTIAL THROMBOCYTHEMIA; POLYCYTHEMIA-VERA; IDIOPATHIC MYELOFIBROSIS; GENE-EXPRESSION; CD34(+) CELLS; PANCREATIC ADENOCARCINOMA; CARCINOEMBRYONIC ANTIGEN; CHRONIC INFLAMMATION; DIAGNOSIS; DISEASEMultiple languages
Multidisciplinary SciencesMultiple languages
Refereed: Yes
URI: http://kups.ub.uni-koeln.de/id/eprint/26615

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