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- Title
Leukemic transformation driven by an ASXL1 mutation after a JAK2V617F-positive primary myelofibrosis: clonal evolution and hierarchy revealed by next-generation sequencing.
- Authors
Ferrer-Marín, Francisca; Bellosillo, Beatriz; Martínez-Avilés, Luz; Soler, Gloria; Carbonell, Pablo; Luengo-Gil, Ginés; Caparrós, Eva; Torregrosa, José M .; Besses, Carlos; Vicente, Vicente
- Abstract
We have characterized the molecular changes underlying the transformation of a JAK2V617F+-myelofibrosis with trisomy 8, into a JAK2V617F-negative leukemia. Leukemic clone did not carry JAK2V617F mutation, but showed ASXL1 mutation (R693X). This mutation was identified in a low percentage at diagnosis by next-generation sequencing. Using this technology in serial specimens during the follow-up, we observed a progressive expansion of the ASXL1-mutated minor clone, whereas the JAK2V617F+-clone carrying trisomy 8 decreased. Hematologic progression occurred simultaneously with an ASXL1-R693X-negative lung-cancer. This is the first report showing a clear association between the expansion of an ASXL1-mutated clone and the leukemic transformation of myelofibrosis.
- Subjects
MYELOFIBROSIS; NUCLEOTIDE sequence; HEMATOLOGIC malignancies; CANCER invasiveness; TRISOMY; CHROMOSOME abnormalities
- Publication
Journal of Hematology & Oncology, 2013, Vol 6, Issue 1, p1
- ISSN
1756-8722
- Publication type
Article
- DOI
10.1186/1756-8722-6-68