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A 7-gene signature depicts the biochemical profile of early prefibrotic myelofibrosis

Skov, Vibe; Burton, Mark; Thomassen, Mads; Larsen, Thomas Stauffer; Riley, Caroline H.; Madelung, Ann Brinch; Kjær, Lasse; Bondo, Henrik; Stamp, Inger and Ehinger, Mats LU , et al. (2016) In PLoS ONE 11(8).
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 theWorld Health Organization (WHO) 2008 classification, bone marrow histology is a major component in the distinction between these disease entities. However, the differential diagnosis between themmay 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... (More)

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 theWorld Health Organization (WHO) 2008 classification, bone marrow histology is a major component in the distinction between these disease entities. However, the differential diagnosis between themmay 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, andMMP8, 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.

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PLoS ONE
volume
11
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8
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Public Library of Science
external identifiers
  • scopus:84991492547
  • wos:000382877400028
ISSN
1932-6203
DOI
10.1371/journal.pone.0161570
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English
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yes
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06627567-40de-4764-b10c-d57312369bed
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2016-11-04 11:43:59
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2017-10-01 05:25:23
@article{06627567-40de-4764-b10c-d57312369bed,
  abstract     = {<p>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 theWorld Health Organization (WHO) 2008 classification, bone marrow histology is a major component in the distinction between these disease entities. However, the differential diagnosis between themmay 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, andMMP8, 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.</p>},
  articleno    = {e0161570},
  author       = {Skov, Vibe and Burton, Mark and Thomassen, Mads and Larsen, Thomas Stauffer and Riley, Caroline H. and Madelung, Ann Brinch and Kjær, Lasse and Bondo, Henrik and Stamp, Inger and Ehinger, Mats and Dahl-Sørensen, Rasmus and Brochmann, Nana and Nielsen, Karsten and Thiele, Jürgen and Jensen, Morten K. and Bjerrum, Ole Weis and Kruse, Torben A. and Hasselbalch, Hans Carl},
  issn         = {1932-6203},
  language     = {eng},
  month        = {08},
  number       = {8},
  publisher    = {Public Library of Science},
  series       = {PLoS ONE},
  title        = {A 7-gene signature depicts the biochemical profile of early prefibrotic myelofibrosis},
  url          = {http://dx.doi.org/10.1371/journal.pone.0161570},
  volume       = {11},
  year         = {2016},
}