Clinical significance of recurrent copy number aberrations in B-lineage acute lymphoblastic leukaemia without recurrent fusion genes across age cohorts.
Monica MessinaSabina ChiarettiAnna Lucia FedulloAlfonso PiciocchiMaria Cristina PuzzoloAlessia LaurettiValentina GianfeliciValerio ApicellaPaola FaziGeertruy Te KronnieAnna Maria TestiAntonella VitaleAnna GuariniRobin FoàPublished in: British journal of haematology (2017)
Copy number aberrations (CNAs) represent cooperating events in B-lineage acute lymphoblastic leukaemia (B-ALL); however, their clinical relevance across different age cohorts is unclear. We analysed the recurrent CNAs in 157 age-stratified B-ALL negative cases for recurrent rearrangements (B-NEG ALL), and their association with patients' clinico-biological features. We found that: (i) CDKN2A/RB1-deleted and EBF1-deleted adults had a shorter disease-free survival than those with wild-type, (ii) among the unfavourable markers, CDKN2A/RB1 deletions and K/NRAS mutations retained their impact in multivariate analysis, encouraging the evaluation of CDKN2A/RB1 deletions and RAS mutations in the diagnostic/prognostic workflow to refine ALL risk assessment.
Keyphrases
- copy number
- mitochondrial dna
- genome wide
- free survival
- risk assessment
- liver failure
- dna methylation
- end stage renal disease
- respiratory failure
- chronic kidney disease
- ejection fraction
- drug induced
- aortic dissection
- prognostic factors
- electronic health record
- extracorporeal membrane oxygenation
- bioinformatics analysis