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Table 1 Tumour samples are listed along with their pathogenic variant detected either by diagnostic test or by whole genome sequencing where known (column 2)

From: A comprehensive characterisation of phaeochromocytoma and paraganglioma tumours through histone protein profiling, DNA methylation and transcriptomic analysis genome wide

 

(ALL) N = 52

N

Group

 

52

 HRAS

2 (3.85%)

 

 IDH3B

1 (1.92%)

 

 NF1

1 (1.92%)

 

 Normal

2 (3.85%)

 

 RET

1 (1.92%)

 

 SDHA

1 (1.92%)

 

 SDHB

14 (26.9%)

 

 SDHD

5 (9.62%)

 

 Sporadic

20 (38.5%)

 

 VHL

5 (9.62%)

 

Location

 

50

 EAPGL

21 (42.0%)

 

 HNPGL

7 (14.0%)

 

 PCC

22 (44.0%)

 

Metastatic

 

50

 No

20 (40.0%)

 

 Unknown

22 (44.0%)

 

 Yes

8 (16.0%)

 

Primary

 

50

 No

4 (8.00%)

 

 Unknown

22 (44.0%)

 

 Yes

24 (48.0%)

 

Recurring

 

50

 No

21 (42.0%)

 

 Unknown

22 (44.0%)

 

 Yes

7 (14.0%)

 

Clinically aggressive

 

50

 No

17 (34.0%)

 

 Unknown

22 (44.0%)

 

 Yes

11 (22.0%)

 

ATRX double mutation:

 

50

 No

24 (48.0%)

 

 Unknown

22 (44.0%)

 

 Yes

4 (8.00%)

 

Cluster

 

52

 Cluster 1A

21 (40.4%)

 

 Cluster 1B

5 (9.62%)

 

 Cluster 2

4 (7.69%)

 

 Normal

2 (3.85%)

 

 Sporadic

20 (38.5%)

 

Sex

 

52

 F

15 (28.8%)

 

 M

21 (40.4%)

 

 Unknown

16 (30.8%)

 

Tissue

 

52

 Normal adrenal medulla

2 (3.85%)

 

 Tumour

50 (96.2%)

 
  1. The location of the tumour site is listed (location) since this is relevant to DNA methylation pattern. The behaviour of the tumour is described as aggressive or metastatic or neither. EAPGL: Extra-adrenal paraganglioma (i.e. of the thorax, abdomen or pelvis). HNPGL: Head and neck paraganglioma. PCC: Phaeochromocytoma