Clinical And Laboratory Characteristics In Patients Of Myelodysplastic Syndrome With PNH Clones

Objective To analyze the clinical, laboratory characteristics and PIG-A gene mutations in patients of myelodysplastic syndromes with PNH clones.Methods 218 MDS patients diagnosed from August 2013 to August 2015 were analyzed. The PIG-A gene mutations were tested in 13 cases of MDS with PNH clones, 17 cases of AA-PNH and 14 cases of PNH selected contemporaneously by PCR and direct sequencing.Results 13(5.96%) MDS patients were detected with PNH clones (13/218 cases), with a median age of 37 (15～64) years old, male to female ratio of 1.6:1,12 patients with RCMD,1 patients with RAEB-Ⅱ, three patients with Abnormal karyotype,9 patients with pancytopenia,9 patients were treated with cyclosporin A (CsA).88.9% of patients showed hematological improvement (HI). There were significant differences between MDS-PNH and PNH patients in terms of red cell clone size, granulocyte clone size and LDH levels (P values were 0.007,0.026,0.049 respectively), while the differences were not statistically significant in patients between MDS-PNH and AA-PNH patients (P values were 0.834,0.079,0.107 respectively). PIG-A gene mutations were detected in 7 MDS-PNH patients, of them, six were missense mutations, one were rameshift mutation and four cases with the same mutation of c.356T> A (R119Q). The PIG-A gene mutations were also detected in 9/11 AA-PNH patients and 11/14 PNH patients, both of them have the mutation of c.356T> A (R119Q). The PIG-A gene mutations of MDS-PNH, AA-PNH, PNH patients were all small mutations, the majority of those(59%) were missense mutation and mainly located in the 2 exon.Conclusion MDS patients with PNH clones had better response to CsA, smaller PNH clone size. The PIG-A gene mutations of MDS-PNH patients mainly located in exon 2, which could be a mutational hotspot of these patients.