Recurrent Germline Mutations of CHEK2 as a New Susceptibility Gene in Patients with Pheochromocytomas and Paragangliomas

Table 3

The detailed clinical manifestations of the four patients with CHEK2 mutations.

Patient

Gender

Age at diagnose

Duration

Tumor

NE

E

DA

Past history

Multiple tumors

Tumor recurrence

Tumor metastasis

Family history

1

Male

55

7

PCC, PGL

537.43

3.54

345.60

Renal cyst, cerebral infarction

Adrenal, abdominal

Recurrence

No

No

2

Male

30

13

PCC

714.71

7.15

472.23

No

No

No

Liver

No

3

Male

41

7

PCC

775.03

2.83

571.37

No

No

No

No

No

4

Female

51

5

PCC

1608.66

4.74

342.87

No

No

No

Bone

No

PCC: pheochromocytoma; PGL: paraganglioma; NE: 24-hour urinary norepinephrine (normal range: 16.7–40.7 μg/24 h); E: 24-hour urinary epinephrine (normal range: 1.7–6.4 μg/24 h); DA: 24-hour urinary dopamine (normal range: 120.9–330.6 μg/24 h); NE, E, and DA were the preoperative hormone levels of each patient and measured in μg/24 h. Age at diagnosis and duration of PPGL were measured in years.