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Table 2 CSF3R and SETBP1 mutations in CNL

From: CSF3R, SETBP1 and CALR mutations in chronic neutrophilic leukemia

 

Gotlib J et al. (2013) [[7]]

Pardanani A et al. (2013) [[3]]

This series

Total

T618I only

1

5

1

7

T618I + SETBP1

4

4

6

14

Compound CSF3R mutationsa only

2

1

0

3

Compound CSF3R mutations + SETBP1 mutations

1

0

0

1

Others

1b

2c

1d

4

  1. a: compound CSF3R mutations mean nonsense or frameshift mutations that truncate the cytoplasmic tail (truncation mutations) combined with point mutations in the extracellular domain (membrane proximal mutation). In the 3 cases of compound CSF3R mutations Tyner et al. reported, two patients harbored T618I and one harbored T615A in the membrane proximal domain. In Tefferi's study, the compound CSF3R mutation showed T618I + c.2341_2342insC.
  2. b: A case with JAK2 mutation only.
  3. c: A case with I598I and a case with M696T in CSF3R.
  4. d: A case with CSF3R T618I and CALR frameshift mutation.