Table 1 The cohort screened for pathogenic TERT promoter variants by massively parallel amplicon-based sequencing assay

From: Pathogenic TERT promoter variants in telomere diseases

 

Telomeropathies

Family members

Control groupa

DC (n = 21)

AA (n = 86)

IPF (with or without AA, MDS, and cirrhosis) (n = 18)

Other phenotypes (n = 11)

(n = 52)

AML (n = 106)

Acquired AA, IPF or other IBMFS (n = 89)

Median age (range)

13 (1–59)

28 (5–73)

54 (27–76)

27 (3–69)

40 (8–72)

50 (2–86)

29 (1–88)

Females/males

4/9

40/46

7/11

3/8

30/22

51/55

44/45

Patients with somatic TERTp (%)

0

4 (4.6%)

5 (28%)

0

5 (9.6%)

0

0

Patients with a germline TERT variant

3

37

14

5

34

0

0

Patients with a somatic TERTp and a germline TERT variant

0

3

5

0

5

0

0

Patients with somatic TERTp variants from the total of patients with TERT germline variants (%)

0

8.1

36

0

14.7

0

0

  1. TERTp pathogenic TERT.
  2. In this study, we screened 136 patients with telomeropathies that presented dyskeratosis congenita (DC, n = 21), aplastic anemia (AA, n = 86), idiopathic pulmonary fibrosis (IPF, n = 18), and other phenotypes that included myelodysplastic syndrome (MDS) or hypoplastic MDS (HypoMDS, n = 7), isolated thrombocytopenia (n = 3), and thrombocythemia (n = 1).
  3. aControl group was composed of patients with acquired AA (n = 70; median age = 28 years), IPF (n = 12; median age = 62 years), other inherited bone marrow failure syndromes (IBMFS; Diamond–Blackfan anemia, n = 4; chronic neutropenia, n = 3), and acute myeloid leukemia (AML, n = 106; Supplementary Tables S2–S3).
Back to article page