PMID- 25212680
OWN - NLM
STAT- MEDLINE
DCOM- 20150923
LR  - 20211021
IS  - 1865-3774 (Electronic)
IS  - 0925-5710 (Linking)
VI  - 101
IP  - 3
DP  - 2015 Mar
TI  - Molecular pathogenesis of atypical CML, CMML and MDS/MPN-unclassifiable.
PG  - 229-42
LID - 10.1007/s12185-014-1670-3 [doi]
AB  - According to the 2008 WHO classification, the category of 
      myelodysplastic/myeloproliferative neoplasms (MDS/MPN) includes atypical chronic 
      myeloid leukaemia (aCML), chronic myelomonocytic leukaemia (CMML), 
      MDS/MPN-unclassifiable (MDS/MPN-U), juvenile myelomonocytic leukaemia (JMML) and 
      a "provisional" entity, refractory anaemia with ring sideroblasts and 
      thrombocytosis (RARS-T). The remarkable progress in our understanding of the 
      somatic pathogenesis of MDS/MPN has made it clear that there is considerable 
      overlap among these diseases at the molecular level, as well as layers of 
      unexpected complexity. Deregulation of signalling plays an important role in many 
      cases, and is clearly linked to more highly proliferative disease. Other 
      mutations affect a range of other essential, interrelated cellular mechanisms, 
      including epigenetic regulation, RNA splicing, transcription, and DNA damage 
      response. The various combinations of mutations indicate a multi-step 
      pathogenesis, which likely contributes to the marked clinical heterogeneity of 
      these disorders. The delineation of complex clonal architectures may serve as the 
      cornerstone for the identification of novel therapeutic targets and lead to 
      better patient outcomes. This review summarizes some of the current knowledge of 
      molecular pathogenetic lesions in the MDS/MPN subtypes that are seen in adults: 
      atypical CML, CMML and MDS/MPN-U.
FAU - Zoi, Katerina
AU  - Zoi K
AD  - Haematology Research Laboratory, Biomedical Research Foundation, Academy of 
      Athens, Athens, Greece.
FAU - Cross, Nicholas C P
AU  - Cross NC
LA  - eng
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PT  - Review
DEP - 20140912
PL  - Japan
TA  - Int J Hematol
JT  - International journal of hematology
JID - 9111627
SB  - IM
MH  - Animals
MH  - Cytogenetic Analysis
MH  - DNA Damage
MH  - Epigenesis, Genetic
MH  - Gene Expression Regulation, Neoplastic
MH  - Humans
MH  - Leukemia, Myeloid, Chronic, Atypical, BCR-ABL 
      Negative/*genetics/metabolism/pathology
MH  - Leukemia, Myelomonocytic, Chronic/*genetics/metabolism/pathology
MH  - Mutation
MH  - Myelodysplastic-Myeloproliferative 
      Diseases/classification/*genetics/metabolism/pathology
MH  - RNA Splicing
MH  - Signal Transduction
EDAT- 2014/09/13 06:00
MHDA- 2015/09/24 06:00
CRDT- 2014/09/13 06:00
PHST- 2014/07/13 00:00 [received]
PHST- 2014/09/02 00:00 [accepted]
PHST- 2014/09/02 00:00 [revised]
PHST- 2014/09/13 06:00 [entrez]
PHST- 2014/09/13 06:00 [pubmed]
PHST- 2015/09/24 06:00 [medline]
AID - 10.1007/s12185-014-1670-3 [doi]
PST - ppublish
SO  - Int J Hematol. 2015 Mar;101(3):229-42. doi: 10.1007/s12185-014-1670-3. Epub 2014 
      Sep 12.