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Multicenter Study
. 2015 Sep;100(9):1117-30.
doi: 10.3324/haematol.2014.114660.

An International MDS/MPN Working Group's perspective and recommendations on molecular pathogenesis, diagnosis and clinical characterization of myelodysplastic/myeloproliferative neoplasms

Tariq I Mughal  1 , Nicholas C P Cross  2 , Eric Padron  3 , Ramon V Tiu  4 , Michael Savona  5 , Luca Malcovati  6 , Raoul Tibes  7 , Rami S Komrokji  3 , Jean-Jacques Kiladjian  8 , Guillermo Garcia-Manero  9 , Attilio Orazi  10 , Ruben Mesa  7 , Jaroslaw P Maciejewski  4 , Pierre Fenaux  8 , Raphael Itzykson  8 , Ghulam Mufti  11 , Eric Solary  12 , Alan F List  3
Affiliations
Multicenter Study

An International MDS/MPN Working Group's perspective and recommendations on molecular pathogenesis, diagnosis and clinical characterization of myelodysplastic/myeloproliferative neoplasms

Tariq I Mughal et al. Haematologica. 2015 Sep.

Abstract

In the 2008 WHO classification, chronic myeloid malignancies that share both myelodysplastic and myeloproliferative features define the myelodysplastic/myeloproliferative group, which includes chronic myelomonocytic leukemia, juvenile myelomonocytic leukemia, atypical chronic myeloid leukemia, refractory anemia with ring sideroblasts and thrombocytosis, and myelodysplastic/myeloproliferative unclassified. With the notable exception of refractory anemia with ring sideroblasts and thrombocytosis, there is much overlap among the various subtypes at the molecular and clinical levels, and a better definition of these entities, an understanding of their biology and an identification of subtype-specific molecular or cellular markers are needed. To address some of these challenges, a panel comprised of laboratory and clinical experts in myelodysplastic/myeloproliferative was established, and four independent academic MDS/MPN workshops were held on: 9(th) March 2013, in Miami, Florida, USA; 6(th) December 2013, in New Orleans, Louisiana, USA; 13(th) June 2014 in Milan, Italy; and 5(th) December 2014 in San Francisco, USA. During these meetings, the current understanding of these malignancies and matters of biology, diagnosis and management were discussed. This perspective and the recommendations on molecular pathogenesis, diagnosis and clinical characterization for adult onset myelodysplastic/myeloproliferative is the result of a collaborative project endorsed and supported by the MDS Foundation.

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Figures

Figure 1.
Figure 1.
Myeloproliferative neoplasms and myelodysplastic syndromes.
Figure 2.
Figure 2.
A schematic description of genotypic diversity in patients with myelodysplastic syndromes (MDS) and myeloproliferative neoplasms (MPN).
Figure 3.
Figure 3.
A photomicrograph from a patient with chronic myelomonocytic leukemia (CMML)-1. (A) Peripheral blood smear showing three abnormal monocytes and one neutrophil. (B and C) Bone marrow aspirate and the corresponding napthyl butyrate esterase image of the aspirate. (D) Bone marrow trephine biopsy.
Figure 4.
Figure 4.
Early clonal dominance (CD34+/CD38−cells) in chronic myelomonocytic leukemia (CMML) compared to myeloproliferative neoplasms (MPN). Adapted from Itzykson et al.
Figure 5.
Figure 5.
A simplified prognostic score for chronic myelomonocytic leukemia (CMML) that includes ASXL1 mutations. Adapted from Itzykson et al.
Figure 6.
Figure 6.
Hematologic parameters in a cohort of 121 patients with atypical chronic myeloid leukemia (aCML).
Figure 7.
Figure 7.
Emerging molecular fingerprints of myelodysplastic syndromes (MDS) and myeloproliferative neoplasms (MPN).
See this image and copyright information in PMC

References

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