Detection and analysis of common pathogenic germline mutations in Peutz-Jeghers syndrome

Table 1 Clinical characteristics of 24 enrolled Peutz-Jeghers syndrome patients

No.	Gender	Specimen	Time since onset of pigment spots (yr)	Early or late onset	Family history (members)	Number of hospitalizations	Number of operations	Stomach and enteroscopy times	Age at initial diagnosis of polyps	Age at first treatment	Polyp pathology	Load of Gastric polyps/Max. diameter (mm)	Load of small intestinal polyps/Max. diameter (mm)	Load of colorectal polyps/Max. diameter (mm)
1	Male	Paraffin section	20	Late	No	2	1	6	20	15	1	/	20/30	/
2	Male	Paraffin section	6	Late	Yes (mother and sister)	1	2	3	9	9	1	2/16	20/40	1/8
3	Female	Paraffin section	4	Late	No	2	1	4	9	9	1	/	3/28	/
4	Male	Paraffin section	5	Late	No	1	2	1	21	21	3	20/4	6/50	/
5	Male	Paraffin section	1	Early	Yes (mother)	4	2	1	4	4	1	2/12	2/60	/
6	Female	Blood	5	Late	Yes (father)	1	0	1	29	29	1	/	/	/
7	Female	Blood	1	Early	Yes (father and sister)	4	0	11	7	7	1	1/8	2/30	3/40
8	Male	Blood	0	Early	Yes (father and sister)	1	0	1	10	10	1	/	10/50	/
9	Male	Blood	6	Late	Yes (mother and grandmother)	4	1	7	6	7	1	5/12	2/30	3/35
10	Female	Blood	2	Early	No	1	0	3	7	7	1	2/15	/	1/30
11	Male	Blood	3	Late	No	1	4	0	22	32	1	/	1/30	/
12	Male	Blood	2	Early	No	2	1	10	4	4	1	1/6	2/50	/
13	Male	Blood	2	Early	No	1	2	1	25	24	1	/	10/20	/
14	Female	Blood	3	Late	No	8	2	8	6	6	1	1/10	8/80	1/20
15	Male	Blood	5	Late	No	1	2	3	20	19	2	1/6	1/80	2/30
16	Male	Blood	1	Early	Yes (mother)	3	0	2	10	9	1	/	1/25	/
17	Male	Blood	1	Early	No	3	1	4	6	6	1	8/40	10/30	/
18	Female	Blood	1	Early	No	6	2	9	11	10	1	1/15	3/35	1/50
19	Female	Blood	3	Late	Yes (mother)	2	0	4	15	15	1	1/12	2/12	1/25
20	Female	Blood	3	Late	Yes (father, uncle, and grandmother)	2	2	5	7	7	1	/	18/50	/
21	Female	Blood	1	Early	Yes (mother, uncle, and aunt)	2	0	4	31	31	1	/	10/50	10/40
22	Female	Blood	2	Early	Yes (father and brother)	1	0	1	6	6	1	10/10	8/50	/
23	Male	Blood	5	Late	No	1	0	2	11	11	1	1/30	5/70	1/30
24	Male	Blood	2	Early	No	1	0	4	5	4	1	10/15	/	/

(1) STK11 mutation, SLX4 mutation, other gene mutation groups: 0: None 1: Yes; (2) Early onset: Pigment spots appeared at < 3 years of age; Late onset: Pigment spots appeared at ≥ 3 years of age; (3) Polyp pathology: 1 hamartoma, 2 hamartoma with adenoma, 3 hamartoma with cancer; (4) Polyp load is the number of polyps, the largest diameter unit is mm; and (5) 6 was an outpatient, the results of previous endoscopy are unknown.