Table 2 Clinical characteristics of myelodysplastic syndrome patients
From: The Dawn of next generation DNA sequencing in myelodysplastic syndromes- experience from Pakistan
Variable | Â |
|---|---|
Number of patients (N) | 22 |
Age (Median and SD) | 48.5 ± 9.19 |
Male to Female ratio | 3:01 |
Hemoglobin (Hb) (mg/dl), (Median and SD) | 8.7 ± 1.6 |
Total leucocyte count (TLC) (*10^9/l), (Median and SD) | 9.7 ± 14.3 |
Platelet count (*10^9/l), (Median and SD) | 90 ± 77.6 |
Absolute neutrophils count (ANC) (*10^9/l), (Median and SD) | 1.55 ± 0.91 |
MDS Category | |
 Low Risk | |
  MDS-MLD | 9 (41%) |
  MDS-SLD | 2 (9.09%) |
  MDS-SLD-RS | 1 (4.54%) |
  MDS-U | 1 (4.54%) |
 High Risk | |
  MDS-EB2 | 7 (31.80%) |
  MDS-EB1 | 1 (4.54%) |
  MDS-AML | 1 (4.54%) |
Cytogenetics | |
 Normal karyotype | 12 (54.54%) |
 Del5q | 3 (13.60%) |
 Del7q | 3 (13.60%) |
 Complex karyotype | 3 (13.60%) |
 Monosomy 20 | 1 (4.54%) |
Total number of mutations | |
 No mutation | 10 (45.45%) |
 Mutations | 12 (54.54%) |
Mutations in high risk MDS group | 7 (58%) |
 p.Gly12Ser NRAS | 3 (25%) |
 p.Pro384Leu (het) RunX1 | 1 (8.3%) |
 ASXL1 C2077C > T,BCORL1 C.331 T > C,TET2 c.1064G > A | 1 (8.3%) |
 BCORL1 c.3315 T > C,EZH2c.553G > C | 1 (8.3%) |
 p. Arg107His RunX1,p.Pro75His CDKN2A,p.Thr358Pro GATA2 | 1 (8.3%) |
Mutations in low risk MDS group | 5 (42%) |
 p.Ile428Thr(het) RunX1 | 1 (8.3%) |
 p. Pro75Leu CDKN2A | 1 (8.3%) |
 Tet-2 c5162 T > G mutation | 1 (8.3%) |
 p.Gln1039Ter (het) ASXL1 | 1 (8.3%) |
 DNMT3A(c.2645 G > A), Arg 882 His,Npm1 c.859–860 ins TCTG p. Trp 288.Cysfs Ter 12 | 1 (8.3%) |