Cytogenetics and genomics in CML and other myeloproliferative neoplasms.
Best Pract Res Clin Haematol
; 37(2): 101552, 2024 Jun.
Article
in En
| MEDLINE
| ID: mdl-39098796
ABSTRACT
Chronic myeloid leukemia is defined by the presence of the Philadelphia translocation t (9; 22) resulting in the BCRABL1 fusion. The other myeloproliferative neoplasms (MPN) subtypes also carry typical chromosomal abnormalities, which however are not pathognomonic for a specific entity of MPN. According to the WHO classification the distinction between these entities is still based on the integration of cytological, histopathological and molecular findings. Progression of CML into accelerated and blastic phase is usually driven by additional chromosome abnormalities and ABL1 kinase mutations. In the other MPN subtypes the additional mutations besides driver gene mutations in JAK2, MPL and CALR have a decisive impact on the propensity for progression. In addition, the sequence in which the driver mutations and risk conveying additional mutations have been acquired appears to play an important role. Here, we review cytogenetic and molecular changes in CML and MPN that should be evaluated during diagnosis and disease monitoring.
Key words
Full text:
1
Collection:
01-internacional
Database:
MEDLINE
Main subject:
Leukemia, Myelogenous, Chronic, BCR-ABL Positive
/
Janus Kinase 2
/
Mutation
/
Myeloproliferative Disorders
Limits:
Humans
Language:
En
Journal:
Best Pract Res Clin Haematol
Journal subject:
HEMATOLOGIA
Year:
2024
Document type:
Article
Country of publication:
Países Bajos