[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 (MDS) 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). 9 patients were treated with cyclosporin A (CsA). Patients showed hematological improvement (HI). There were significant differences between MDS-PNH and PNH patients in terms of granulocyte clone size, red cell clone size and LDH levels [19.2% (1.0%-97.7%) vs 60.2% (3.1%-98.0%), P=0.007; 4.3% (0-67.2%) vs 27.9% (2.5%-83.6%), P=0.026; 246 (89-2014) U/L vs 1137 (195-2239) U/L, P=0.049], while the differences were not statistically significant in patients between MDS-PNH and AA-PNH patients [19.2% (1.0%-97.7%) vs 23.2% (1.5%-96.0%), P=0.843; 4.3% (0-67.2%) vs 14.4% (1.1%-62.8%), P=0.079; 246 (89-2014) U/L vs 406 (192-1148) U/L, P=0.107]. PIG-A gene mutations were detected in 7 MDS-PNH patients, of them, six were missense mutations, one were frameshift mutation and four cases with the same mutation of c.356G>A (R119Q). The PIG-A gene mutations were also detected in 9/11 AA-PNH patients and 11/14 PNH patients, both of them had the mutation of c.356G>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 exon 2.


CONCLUSIONS
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.
State Key Laboratory of Experimental Hematology, Institute of Hematology and Blood Diseases Hospital, CAMS & PUMC, Tianjin 300020, China.
Yan
Y
Li
Tiejun
T
Qin
Zefeng
Z
Xu
Yue
Y
Zhang
Jingya
J
Wang
Bing
B
Li
Liwei
L
Fang
Lijuan
L
Pan
Naibo
N
Hu
Hongli
H
Zhang
Shiqiang
S
Qu
Jinqin
J
Liu
Huijun
H
Wang
Zhijian
Z
Xiao
D000741:Anemia, Aplastic / Q000235:genetics*; D002999:Clone Cells; D004912:Erythrocytes / Q000166:cytology; D005091:Exons; D006098:Granulocytes / Q000166:cytology; D006457:Hemoglobinuria, Paroxysmal / Q000235:genetics*; D006801:Humans; D008565:Membrane Proteins / Q000235:genetics; D009154:Mutation; D009190:Myelodysplastic Syndromes / Q000235:genetics*; D016133:Polymerase Chain Reaction
D008565:Membrane Proteins; C080086:phosphatidylinositol glycan-class A protein