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Molecular pathogenesis of atypical CML, CMML and MDS/MPN-unclassifiable

Molecular pathogenesis of atypical CML, CMML and MDS/MPN-unclassifiable
Molecular pathogenesis of atypical CML, CMML and MDS/MPN-unclassifiable
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.
0925-5710
229-242
Zoi, Katerina
0bcb986d-3fef-49dc-b9f8-18daf79e8bfb
Cross, Nicholas C.P.
f87650da-b908-4a34-b31b-d62c5f186fe4
Zoi, Katerina
0bcb986d-3fef-49dc-b9f8-18daf79e8bfb
Cross, Nicholas C.P.
f87650da-b908-4a34-b31b-d62c5f186fe4

Zoi, Katerina and Cross, Nicholas C.P. (2015) Molecular pathogenesis of atypical CML, CMML and MDS/MPN-unclassifiable. International Journal of Hematology, 101 (3), 229-242. (doi:10.1007/S12185-014-1670-3).

Record type: Article

Abstract

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.

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More information

Accepted/In Press date: 12 September 2014
Published date: March 2015
Organisations: Human Development & Health

Identifiers

Local EPrints ID: 369106
URI: http://eprints.soton.ac.uk/id/eprint/369106
ISSN: 0925-5710
PURE UUID: e3405457-b788-4242-b6ee-26df6d0c47bb
ORCID for Nicholas C.P. Cross: ORCID iD orcid.org/0000-0001-5481-2555

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Date deposited: 25 Sep 2014 12:55
Last modified: 15 Mar 2024 03:11

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Author: Katerina Zoi

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