Table 1 Clinical characteristics, and cytogenetics of 176 patients with PHF6 mutated myeloid neoplasms including acute myeloid leukemia, chronic myelomonocytic leukemia, myelodysplastic syndrome and myeloproliferative disorders.

From: Myeloid neoplasms with PHF6 mutations: context-dependent genomic and prognostic characterization in 176 informative cases

Variables

All patients N = 176

Acute myeloid leukemiaa N = 67

Chronic myelomonocytic leukemia N = 49

Myelodysplastic syndrome N = 36

Myeloproliferative neoplasms N = 16

Myelodysplastic/ Myeloproliferative neoplasm N = 8

P-value

Demographics:

 Age in years; median (range)

73 (22–92)

71 (22–92)

71 (35–91)

75 (58–90)

75.5 (54–87)

64 (39–77)

<0.01

 Male; n (%)

134 (76)

50 (75)

36 (73)

27 (75)

14 (87.5)

7 (87.5)

0.7

Laboratory parameters:

 Leukocytes, x 109/L; median (range)

4.3 (0.2–385)

3.4 (0.2–385)

6.2 (2–34)

2.3(1–13.2)

11.5(1.1–118)

4.45 (1.5–58.4)

<0.01

 Hemoglobin < 10 g/dL; n (%)

90 (52)

46 (71)

9 (19)

21 (58)

10 (63)

4 (50)

 

 Platelets, x 109/L; median (range)

57.5 (2–1208)

41 (4–514)

66 (6.4–285)

44 (2–205)

177 (19–1208)

149 (5–985)

<0.01

 Platelet count < 150 ×109/L; n (%)

147 (85)

61 (95)

43 (90)

34 (94)

5 (31)

4 (50)

 Circulating blast %; median (range)

0 (0–97)

16 (0–97)

0 (0–5)

0 (0–2)

0.5 (0–8)

0 (0–6)

<0.01

 Bone marrow blast %; median (range)

5 (0–95)

57 (12–95)

3 (0–19)

3 (0–17)

2 (0–10)

4 (1–15)

<0.01

 Absolute monocyte count x 109/L; median (range)

0.4 (0–54)

0.15 (0–54)

1.4 (0.4–11.2)

0.2 (0–0.9)

0.43 (0–44.8)

0.35 (0.02–2.9)

<0.01

Mutations and cytogenetics

 Cytogenetics:

      

<0.01

 Sole loss of Y chromosome; n (%)

11 (6)

0 (0)

8 (16)

3 (8)

0 (0)

0 (0)

 

 Abnormal; n (%)

70 (40)

36 (54)

11 (22)

12 (33)

7 (44)

4 (50)

 

 PHF6MUT Variant allele frequency; median (range) (evaluable = 168)

30 (2–100)

33 (5–100)

25.5 (4–96)

29.5 (2–98)

14 (3–99)

43 (6–84)

0.1

 PHF6MUT Variant allele frequency > 20%; n(%) (evaluable = 168)

103 (61)

41 (66)

30 (65)

20 (55)

6 (38)

6 (75)

Outcomes:

 Median follow up in monthsb (range)

25 (0–202)

15 (0–104)

81 (1–208)

26 (0–58)

17 (1–71)

10 (5–45)

<0.01

 Deaths; n (%)

110 (63)

46 (69)

25 (51)

23 (64)

10 (63)

7 (88)

0.1

 Blast transformation (excluding AML)b; n (%) Relapse of leukemia (in AML)b; n (%)

18 (17)

11 (16)

5 (10)

6 (17)

4 (25)

3 (38)

0.5

 Documented Allo-SCTc; n (%)

44 (25)

23 (34)

10 (20)

6 (17)

3 (19)

2 (25)

0.2

  1. NR not reached, MUT mutation.
  2. aIncluding 2 patients with myeloid sarcoma without bone marrow disease.
  3. bCensored at the time of allogeneic hematopoietic stem cell transplantation.
  4. cAllo-SCT: Allogeneic hematopoietic stem cell transplantation.
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