Table 1 Patient characteristics with CCUS, the treatment regimens and outcomes.

From: Treatment outcome of clonal cytopenias of undetermined significance: a single-institution retrospective study

Case no.

Age (years)

Sex

Clinical features

1st NGS-mutated gene (VAF%)

2nd NGS, if available (VAF%)

3rd NGS, if available (VAF%)

Treatment

Response

Follow-up duration (M)

Outcomes

1

60

M

Anemia and thrombocytopenia; Sweet syndrome

TET2 (44%); TET2 (41%)

—

—

HMA (DAC 5d); steroid

SI

6.7

Alive

2

71

M

Neutropenia; a history of chronic lymphocytic leukemia

IDH1 (33%); SRSF2 (39%)

—

—

HMA (DAC 3d)

HI

1.4

Alive

3

74

M

Neutropenia; acquired periodic fever syndrome

IDH2 (37%); ZRSR2 (74%)

—

—

HMA (DAC 3d)

SI

2.4

Alive

4

71

M

Anemia and thrombocytopenia; hypogammaglobinemia; systemic inflammatory response syndrome

DNMT3A (47%)

DNMT3A (44%)

—

HMA (DAC 3d)

HI

12.2

Alive

5

78

M

Pancytopenia

U2AF1 (22%)

—

—

Steroid; IVIG; ESA

Stable

53.3

Alive

6

70

M

Pancytopenia; a history of bladder cancer

TP53 (5%)

—

—

HMA (DAC 5d)

HI

9.6

Alive

7

73

M

Anemia

SF3B1 (34%); TET2 (8%)

—

SF3B1 (32%); IDH1 (48%)

Testosterone; ESA

MDS

87.8

Alive

8

78

M

Pancytopenia

SF3B1 (missing)

—

—

Vitamin B12; iron

MDS

12.1

Alive

9

67

F

Neutropenia and thrombocytopenia

RUNX1 (missing)

BCOR (27%); KRAS (23%); U2AF1 (24%)

KRAS (38.9%); U2AF1 (45.2%)

TPA

Initial HI, then AML

15.5

Alive

10

78

M

Anemia and thrombocytopenia; poly-inflammatory syndrome characterized by vasculitis; bronchogenic carcinoma

KDM6A (8%); TET2 (22%); U2AF1 (18%); ZRSR2 (92%)

—

—

HMA (DAC 3d)

SI

2.3

Alive

11

64

M

Neutropenia and thrombocytopenia

CUL3 (25.7%); SRSF2 (43.5%); TET2 (4.5%); TET2 (1.5%)

SRSF2 (43%); TET2 (11%)

—

Rituximab

Stable

1.7

Alive

12

81

M

Neutropenia and thrombocytopenia

IDH1 (12%); SRSF2 (15%)

—

—

Steroid; GCSF

HI

6.6

Alive

13

88

M

Anemia

ZRSR2 (34%)

—

—

Testosterone

Stable

48.3

Alive

14

74

M

Pancytopenia

DDX41 (5%); DNMT3A (7%)

—

—

GCSF

Stable

3.5

Alive

15

24

M

Neutropenia and thrombocytopenia

ASXL1 (32%)

—

—

GCSF; ESA

Initial HI, then progressed with worsening cytopenia (s)

18.5

Dead

16

76

M

Anemia and thrombocytopenia

SRSF2 (32%); TP53 (22%)

TP53 (missing)

—

ESA

Stable

18.9

Alive

17

69

F

Pancytopenia; history of lung cancer

JAK2 (2%); TP53 (16%)

JAK2 (10%); TP53 (13%); U2AF1 (6%)

—

Steroid; cyclosporine; ESA

Worsening cytopenia (s)

15.4

Dead

18

78

M

Pancytopenia

U2AF1 (25%)

ASXL1 (9%); U2AF1 (18%)

—

ESA; testosterone

Stable

10.7

Alive

19

69

F

Anemia and neutropenia

IDH1 (38%); SRSF2 (43%); TP53 (42%)

—

—

ESA

SI

22

Alive

20

75

M

Pancytopenia

BCOR (19%); U2AF1 (9%)

—

—

Cyclosporine

Worsening cytopenia (s)

10.2

Dead

21

33

M

Pancytopenia; recurrent skin, soft tissue infection, diverticulitis; myopericarditis; history of congenital neutropenia

SETBP1 (50%)b

—

—

Allogeneic stem cell transplantation

HI

32.6

Alive

22

58

F

Pancytopenia; irritable bowel syndrome; fibromyalgia; and inflammatory purpura without vasculitis

ASXL1 (25%)

—

ASXL1 (27%); SETBP1 (12%); SETBP1 (9%)

HMA (DAC 3d)

Initial HI, then MDS

26.3

Alive

23

77

M

Anemia and neutropenia;

ASXL1 (missing); U2AF1 (missing)

—

—

HMA (AZAa)

MDS

9

Alive

24

70

M

Pancytopenia; AML

BCOR (19%); DNMT3A (19%); PHF6 (15%); RUNX1 (9%); SF3B1 (12%); STAG2 (22%); TET2 (9%)

BCOR (64%); DNMT3A (37%); FLT3 (39%); PHF6 (9%); RUNX1 (32%); SF3B1 (36%); STAG2 (68%); TET2 (32%)

—

HMA (AZA 3d)

AML

4.7

Alive

  1. NGS next-generation sequencing, VAF variant allele frequency, MDS myelodysplasia neoplasm, AML acute myeloid leukemia, SI symptomatic improvement, HI hematologic improvement, HMA hypomethylating agents, ESA erythropoietin-stimulating agents, GCSF granulocyte-stimulating factor, TPA thrombopoietin receptor agonist, IVIG intravenous immunoglobulin, DAC 5d decitabine 5 days regimen, DAC 3d decitabine 3 days regimen, AZA 3d azacitadine 3 days regimen, M month.
  2. aMissing details.
  3. bNon-germline mutation.