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Recurrent mutations refine prognosis in chronic lymphocytic leukemia
- Source :
- Leukemia
- Publication Year :
- 2014
-
Abstract
- Through the European Research Initiative on chronic lymphocytic leukemia (CLL) (ERIC), we screened 3490 patients with CLL for mutations within the NOTCH1 (n=3334), SF3B1 (n=2322), TP53 (n=2309), MYD88 (n=1080) and BIRC3 (n=919) genes, mainly at diagnosis (75%) and before treatment (>90%). BIRC3 mutations (2.5%) were associated with unmutated IGHV genes (U-CLL), del(11q) and trisomy 12, whereas MYD88 mutations (2.2%) were exclusively found among M-CLL. NOTCH1, SF3B1 and TP53 exhibited variable frequencies and were mostly enriched within clinically aggressive cases. Interestingly, as the timespan between diagnosis and mutational screening increased, so too did the incidence of SF3B1 mutations; no such increase was observed for NOTCH1 mutations. Regarding the clinical impact, NOTCH1 mutations, SF3B1 mutations and TP53 aberrations (deletion/mutation, TP53ab) correlated with shorter time-to-first-treatment (P
- Subjects :
- Oncology
Male
Cancer Research
Time Factors
Chronic lymphocytic leukemia
DNA Mutational Analysis
medicine.disease_cause
0302 clinical medicine
Recurrence
hemic and lymphatic diseases
Receptor, Notch1
0303 health sciences
Mutation
Hematology
Middle Aged
Prognosis
3. Good health
Europe
Leukemia
030220 oncology & carcinogenesis
Female
RNA Splicing Factors
IGHV@
medicine.medical_specialty
Polymorphism, Single Nucleotide
03 medical and health sciences
Cytogenetics
Internal medicine
medicine
Humans
Clinical significance
neoplasms
030304 developmental biology
Aged
business.industry
Ribonucleoprotein, U2 Small Nuclear
medicine.disease
Phosphoproteins
Leukemia, Lymphocytic, Chronic, B-Cell
Lymphoma
Immunology
Multivariate Analysis
Tumor Suppressor Protein p53
business
Trisomy
Gene Deletion
Subjects
Details
- ISSN :
- 08876924
- Database :
- OpenAIRE
- Journal :
- Leukemia
- Accession number :
- edsair.doi.dedup.....fea8e91e55fe6f021a540b616364c58d
- Full Text :
- https://doi.org/10.1038/leu.2014.196