Title |
Leukemic transformation driven by an ASXL1 mutation after a JAK2V617F-positive primary myelofibrosis: clonal evolution and hierarchy revealed by next-generation sequencing
|
---|---|
Published in |
Journal of Hematology & Oncology, September 2013
|
DOI | 10.1186/1756-8722-6-68 |
Pubmed ID | |
Authors |
Francisca Ferrer-Marín, Beatriz Bellosillo, Luz Martínez-Avilés, Gloria Soler, Pablo Carbonell, Ginés Luengo-Gil, Eva Caparrós, José M Torregrosa, Carlos Besses, 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. |
X Demographics
Geographical breakdown
Country | Count | As % |
---|---|---|
Spain | 3 | 100% |
Demographic breakdown
Type | Count | As % |
---|---|---|
Members of the public | 2 | 67% |
Practitioners (doctors, other healthcare professionals) | 1 | 33% |
Mendeley readers
Geographical breakdown
Country | Count | As % |
---|---|---|
Spain | 1 | 6% |
Unknown | 17 | 94% |
Demographic breakdown
Readers by professional status | Count | As % |
---|---|---|
Student > Ph. D. Student | 6 | 33% |
Researcher | 3 | 17% |
Professor > Associate Professor | 2 | 11% |
Student > Bachelor | 1 | 6% |
Student > Master | 1 | 6% |
Other | 3 | 17% |
Unknown | 2 | 11% |
Readers by discipline | Count | As % |
---|---|---|
Agricultural and Biological Sciences | 6 | 33% |
Medicine and Dentistry | 6 | 33% |
Immunology and Microbiology | 1 | 6% |
Biochemistry, Genetics and Molecular Biology | 1 | 6% |
Unknown | 4 | 22% |