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Aims.  To develop a fast and robust DNA-based assay to detect insertions and deletions mutations in exon 34 that encodes the PEST domain of  NOTCH1  in order to evaluate patients with chronic lymphocytic leukemia (CLL).  Methods.  We designed a multiplexed allele-specific polymerase chain reaction (PCR) combined with a fragment analysis assay to detect specifically the mutation c.7544_7545delCT and possibly other insertions and deletions in exon 34 of  NOTCH1 .  Results.  We evaluated our assay in peripheral blood samples from two cohorts of patients with CLL. The frequency of  NOTCH1  mutations was 8.4% in the first cohort of 71 unselected CLL patients. We then evaluated a second cohort of 26 CLL patients with known cytogenetic abnormalities that were enriched for patients with trisomy 12.  NOTCH1  mutations were detected in 43.7% of the patients with trisomy 12.  Conclusions.  We have developed a fast and robust assay combining allele-specific PCR and fragment analysis able to detect  NOTCH1  PEST domain insertions and deletions.

A Novel Assay for the Identification of NOTCH1 PEST Domain Mutations in Chronic Lymphocytic Leukemia