Table 2 Overview of large (> 100 cases) pan-childhood cancer germline sequencing studies with reported findings for ependymoma

Zhang, J (NEJM)

2015

95/1120 (8.5%)

21/245 (8.6%)

4/67 (6.0%)

NF1 (n = 2), NF2 (n = 1) and TP53 (n = 1). The latter has later been assessed as likely benign. Limited to intracranial ependymoma

Parsons, DW (JAMA Onc)

2016

13/150 (8.7%)

2/56 (3.6%)

0/9 (0.0%)

Oberg, JA (Genome Med)

2016

18/101 (17.8%)

5/17 (29.4%)

2/3 (66.7%)

ACMG secondary findings in BRCA1 (n = 1) and VHL (n = 1)

Gröbner, SN (Nature)

2018

69/914 (7.6%)

39/542 (7.2%)

0/59 (0.0%)

14 cases are overlapping with Zhang et al. (incl. the patient w the reported TP53 variant). Limited to intracranial ependymoma

Wong, N (Nature Med)

2020

40/247 (16.2%)

17/92 (18.5%)

0/8 (0.0%)

Byrjaldsen, A (PLoS Gen)

2020

29/198 (14.7%)

3/44 (6.8%)

0/4 (0.0%)

Ependymoma cases (n = 4) overlap with the current study

Fiala, EM (Nature Can)

2021

138/751 (18.4%)

30/143 (21.0%)

3/14 (21.4%)

NF1 (n = 1), NF2 (n = 1) and an ACMG secondary finding in FANCA (n = 1)

Newmann, S (Cancer Discovery)

2021

55/300 (18.3%)

19/97 (19.6%)

0/11 (0.0%)

Stedingk, KV (Sci rep)

2021

30/790 (3.8%)

8/149 (5.4%)

0/14 (0.0%)

Limited to SNV analysis

Wagener, R (EJHG)

2021

11/160 (6.9%)

3/32 (9.4%)

0/2 (0.0%)

Total

509/4833 (10.5%)

147/1425 (10.3%)

9/191 (4.7%)

Adjusted total for ependymoma

5/173 (2.9%)

Excl. ACMG secondary findings, 14 cases overlapping in Zhang et al./Gröbner et al. and the four cases reported by Byrjalsen et al. also in the current cohort

Our study

2/34 (5.9%)

Restricted to molecularly confirmed ependymoma

Current best estimate

7/207 (3.4%)