Table 1 Table showing distribution of clinical features, genetic testing, and outcomes for the considered FlowFISH categories in the diagnostic assessment of patients (range or % only provided if n > 1).

From: Clinical and molecular correlates from a predominantly adult cohort of patients with short telomere lengths

Characteristic (median; % or range)

Total (n = 233)

FlowFISH TL centile categories (categorization possible in 233 patients)

P value

Group A (<1st centile TL in both lymphocytes and granulocytes) (n = 14)

Group B (1-10th centile in both lymphocytes and granulocytes, or <1st centile in either lymphocytes or granulocytes) (n = 84)

Group C ( < = 10th centile in lymphocytes only) (n = 53)

Group D (>10th centile in lymphocytes) (n = 82)

Age (in years)

58 (4–83)

50 (6–66)

60 (4–77)

59 (17–70)

49.5 (10–83)

0.04

No. of males (%)

144 (57)

40 (49)

56 (67)

31 (58)

40 (49)

0.1

Family history

63 (25)

4 (29)

28 (33)

13 (25)

18 (22)

0.4

Premature graying of hair (onset at age ≤30 years)

23 (10)

3 (21)

11 (13)

5 (9)

4 (5)

0.2

IIP

135 (54)

9 (64)

60 (71)

28 (53)

35 (43)

0.002

Cytopenias

103 (44)

7 (50)

39 (46)

18 (34)

39 (48)

0.4

Cirrhosis

28 (12)

1 (7)

16 (19)

2 (4)

9 (11)

0.04

NRH

4 (2)

1 (7)

1 (1)

-

2 (2)

0.3

Immunodeficiency

37 (16)

2 (14)

6 (7)

14 (26)

15 (18)

0.02

Clinical likelihood of STSa

Low (1)

123 (53)

7 (50)

33 (39)

29 (55)

54 (66)

0.008

Intermediate (2)

81 (35)

4 (29)

33 (39)

20 (38)

24 (29)

0.5

High (>2)

29 (12)

3 (21)

18 (21)

4 (8)

4 (5)

0.003

Delta TL in lymphocytes (kb)

−1.12 (−5.11 to 2.8)

−2.73 (−5.11 to 2.62)

−1.62 (−3.28–0.7)

−1.4 (−2.5–1)

−0.07 (−1.13–2.8)

<0.0001

Delta TL in granulocytes (kb)

−1.27 (−10.6 to 6.35)

−2.8 (−4.1 to −1.9)

−1.84 (−10.6–2.29)

−1.1 (−2.5–5.72)

−0.4 (−3.4–6.4)

<0.0001

No. of patients with genetic testingb

73 (31)

9 (64)

29 (35)

13 (25)

22 (27)

0.03

No. of patients with telomere-related variants

Pathogenic/likely pathogenic

9 (12)

4 (44)

4 (14)

1 (7)

–

0.008

VUS

16 (22)

2 (22)

5 (17)

3 (20)

5 (23)

0.9

  1. This table includes data on 233 patients out of the total cohort of 252 patients. In 19 patients, data on both lymphocytes and granulocytes was not available for categorization into the TL categories. Significant clinical features for TBD considered were personal history of premature graying of hair (onset at age ≤ 30 years), IPF, unexplained cytopenias, cirrhosis or NRH, and unexplained immunodeficiency, or significant family history of the above (in one or more 1st or 2nd degree relatives).
  2. FlowFISH flow cytometry fluorescence in-situ hybridization, TL telomere length, IIP idiopathic interstitial pneumonia, NRH nodular regenerative hyperplasia, TBD telomere biology disorders, VUS variant of uncertain significance.
  3. aBased on the number of the significant clinical features, clinical likelihood score was defined as low (1), intermediate (2), and high (>2).
  4. bIncluded patients were tested with panels designed to test bone marrow failure-related genes. In other words, patients who underwent genetic testing with hematologic malignancy-based next-generation sequencing panels were excluded.
  5. Bold values indicate statistical significance.
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