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.
Highlights
The Philadelphia-negative myeloproliferative neoplasms (MPNs) include essential thrombocythemia (ET), polycythemia vera (PV) and primary myelofibrosis (PMF) [1]
It has been argued that simple blood tests–the hemoglobin (Hb) concentration, the leukocyte count and plasma lactate dehydrogenase (LDH)—may be useful tools to separate genuine ET from early prePMF, the latter disease entity more often being featured by anemia, leukocytosis and elevated LDH [12]
Based on LDH values obtained at the time of diagnosis, 9 patients were assigned to the genuine ET group and 8 patients were assigned to the prePMF group
Summary
The Philadelphia-negative myeloproliferative neoplasms (MPNs) include essential thrombocythemia (ET), polycythemia vera (PV) and primary myelofibrosis (PMF) [1]. The differential diagnosis between these two entities may be challenging and some studies have not been able to distinguish between them [15,16]. Genome wide expression profiling data has been used to perform classification in patients with ET, PV and PMF [17,18,19]. To our knowledge, no study has applied a supervised classification model to distinguish between genuine ET and early prePMF. We report that a simple gene signature–composed of a few genes–in our whole blood gene expression profiling design [20,21,22,23,24,25,26] is able to separate true ET from early prePMF
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