Jean Gabert
Hopitaux de Marseille, France
Title: CALR gene mutations in primary myelo-proliferative syndromes for personalized medicine
Biography
Biography: Jean Gabert
Abstract
A new mutated cancer gene (CALR) has been discovered in December 2013 aff ecting mainly primary myelo-proliferative syndromes (MPS). Th e patients with mutated CALR have a lower risk of thrombosis and longer overall survival than patients with mutated jak2 gene and the clinicians continue to face challenges during diagnosis of un-mutated MPS. CALR mutations are present in 70 to 80% of un-mutated Jak2 MPS. Th e mutations are located on exon 9 of the gene with a loss of KDEL sequence (signal sequence for endoplasmic reticulum) and loss of calcium biding sites with a new basic (instead of acidic) C terminal region. We will present our data: although the fi rst papers were based on new generation sequencing, we wanted to set up a prospective screening based on High Resolution Melting (HRM) followed by Sanger sequencing using the same pair of primers to speed up the process. We tested 180 samples including for suspicion of Essential Th rombocytemia (ET) and primary myelo-fi brosis. We found 21 CALR mutations including one deletion which has not been reported so far. Until 12 years ago the diagnosis of MPS patients was only on elimination; Jak2 and MPL mutations, we can today, with CALR mutations in addition, fi nd one mutated gene for 90% of the MPS patients which improves the medical care of such patients. Th e personalized therapeutic approach is under process