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Atypical Chronic Myeloid Leukemia: Comparison
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Please note this is a comparison between Version 1 by Elena Crisa and Version 5 by Vicky Zhou.

Atypical chronic myeloid leukemia,

BCR-ABL1

negative (aCML) is a rare myelodysplastic syndrome (MDS)/myeloproliferative neoplasm (MPN) with a high rate of transformation to acute myeloid leukemia, and poor survival. Until now, the diagnosis has been based on morphological grounds only, possibly making the real frequency of the disease underestimated. Only recently, new insights in the molecular biology of MDS/MPN syndromes have deepened our knowledge of aCML, enabling us to have a better molecular profile of the disease. The knowledge gleaned from next generation sequencing has complemented morphologic and laboratory WHO criteria for myeloid neoplasms and can provide greater specificity in distinguishing aCML from alternative MDS/MPN or MPNs. The most commonly mutated genes (> 20%) in aCML are

SETBP1

,

ASXL1

,

N/K-RAS

,

SRSF2

, and

TET2

,

and less frequently (< 10%)

CBL

,

CSFR3

,

JAK2

,

EZH2

, and

ETNK1.

Several of these mutations affect the JAK-STAT

,

MAPK, and ROCK signaling pathways, which are targetable by inhibitors that are already in clinical use and may lead to a personalized treatment of aCML patients unfit for allogeneic transplant, which is currently the only curative option for fit patients. 

  • Leukemia
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References

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