Clinicopathological features of familial adenomatous polyposis in Korean patients

Table 1 Main characteristics of the patients with or without colorectal cancer (n = 135)

	Total(n = 135)	with CRC(n = 51)	without CRC (n = 84)	P value1
Age distribution2	31 (15-78)	34 (15-78)	28 (15-64)	0.002
< 20	11 (8.2)	5 (9.8)	6 (7.1)
20-39	86 (63.7)	23 (45.1)	63 (75.0)
40-59	34 (25.2)	21 (41.2)	13 (15.5)
≥ 60	4 (3.0)	2 (4.0)	2 (2.4)
Sex ratio (M:F)	1:0.78	1:0.59	1:0.91	0.239
CRC FHx	72 (53.3)	20 (39.2)	52 (61.9)	0.010
FAP FHx	39 (28.9)	7 (13.7)	32 (38.1)	0.003
Malignancy FHx	86 (63.7)	28 (54.9)	59 (70.2)	0.071
Follow-up (mo)2	54.2 (1-271)	55.5 (1-271)	53.49 (1-212)	0.855
Alive at follow-up	122 (90.4)	40 (78.4)	82 (97.6)	< 0.001
No. of polyps2	435	427	440	0.866
OP procedures				0.846
Handsewn TPC/IPAA	84 (62.2)	29 (56.8)	55 (65.5)
Stapled TPC/ IPAA	33 (24.4)	10 (19.6)	23 (27.4)
TPC/end ileostomy	8 (5.9)	8 (15.7)	0
TC	10 (7.4)	4 (7.8)	6 (7.1)
Mortality	13 (9.6)	11 (21.6)	2 (2.9)	< 0.001
Cancer specific	10 (7.4)	10 (19.6)	0
Other reason	3 (2.2)	1 (2.0)	2 (2.4)

¹Pearson χ² test or Fisher's exact test for categorical variable, t-test for continuous variable;

²Data are expressed as median (range). Data are expressed as number (%) unless otherwise stated. CRC: Colorectal cancer; FAP: Familial adenomatous polyposis; FHx: Family history; TPC/IPAA: Total proctocolectomy with ileal pouch anal anastomosis; TC: Total colectomy.

Table 2 Initial symptoms and extracolic manifestations (n = 135)

		n (%)
Chief complaint	Hemotochezia	34 (25.2)
	Diarrhea	23 (17.0)
	Abdominal pain	14 (10.4)
	Constipation	8 (5.9)
	Abdominal mass	2 (1.5)
	None	47 (34.8)
	Others	7 (5.2)
Extracolic manifestation	Fundic polyps	57 (42.2)
	UGI adenoma	46 (34.1)
	CHRPE	29/100 (29.0)
	Desmoid tumor	20 (14.8)
	Dental anomaly	11/96 (11.5)
	Osteoma	9/84 (10.7)
	Epidermoid cyst	7 (5.2)
	Papillary thyroid cancer	6 (4.4)
	Ampulla of vater adenoma	5 (3.7)
	Adrenal adenoma	4 (3.0)
	Gastric cancer	4 (3.0)

UGI: Upper gastrointestinal; CHRPE: Congenital retinal pigment epithelial hypertrophy.

Table 3 Clinicopathologic characteristics of the patients with colorectal cancer (n = 51)

	n (%)
Tumor location
Colon	32 (62.7)
Rectum	19 (37.3)
Synchronous lesion	24 (47.0)
Definitive stoma	8 (15.7)
Neoadjuvant treatment	2 (3.9)
Tumor grade
WD-MD	46 (88.2)
PD	5 (11.8)
Final pathological staging
Tumor size (mm)1	41 (2.44)
LVI	12 (23.5)
PNI	8 (15.9)
pT0-1	15 (29.4)
pT2	6 (11.8)
pT3	25 (49.0)
pT4	5 (9.8)
Lymph node invasion	25 (49.0)
Distance metastasis	7 (13.7)
Staging
0-1	18 (35.3)
2	6 (11.8)
3	20 (39.2)
4	7 (13.7)
Local relapse	0
Systemic relapse	13 (25.5)

¹Data are expressed as mean (standard deviation). CRC: Colorectal cancer; WD: Well differentiated; MD: Moderately differentiated; PD: Poorly differentiated; pT: Pathologic T status; LVI: Lymphovascular invasion; PNI: Perineural invasion.

Table 4 Genotype-phenotypic correlations for unrelated Korean patients

Exons (introns, I)	Nucleotide change	AA change	Mutationtype	Age ofdiagnosis	Patient characteristics
					CRC	No. of polyps	CHRPE	PTC	DT
7	778C>T	p.Gln260X	Nonsense	49	No	400
10	1378G>T1	p.Glu460X	Nonsense	21	No	1300	O
10	1381G>T1	p.Glu461X	Nonsense	23	No	400			O
11	1495C>T	p.Arg499X	Nonsense	28	Yes	500
13	1690C>T	p.Arg564X	Nonsense	54	Yes	400
15	2797-2800delAACA	p.Asn933LeufsX21	Frameshift	29	No	300	O
15	2805C>G	p.Tyr935X	Nonsense	32	Yes	600	O	O
15	3183-3187delACAAA	p.Lys1061fsX	Frameshift	28	No	400	O
15	3183-3187delACAAA	p.Lys1061fsX	Frameshift	12	No	800
15	3505-3509delGAGAA	p.Glu1169ThrfsX8	Frameshift	38	No	700	O
15	3523C>T	p.Gln1175X	Nonsense	22	No	1400	O
				20	No	450	O
15	3578delA	p.Gln1193ArgfsX72	Frameshift	34	No	100
15	3595-3596delAA	p.Lys1199GlufsX8	Frameshift	28	No	100	O	O
15	3631-3632delAT	p.Met1211fsX5	Frameshift	31	No	200
15	3709C>T	p.Gln1237X	Nonsense	20	No	100	O
15	3925-3928delGAAA2	p.Glu1309ArgfsX11	Frameshift	30	Yes	200	O	O	O
15	3927-3931delAAAGA2	p.Glu1309AspfsX4	Frameshift	17	Yes	2500
15	4393-4394delAG	p.Ser1465TrpfsX3	Frameshift	31	No	130			O
15	4393-4394delAG	p.Ser1465TrpfsX3	Frameshift	31	No	360			O
15	4519-4520insTGAGCTCA1	p.Ser1507MetfsX6	Frameshift	26	Yes	1000	O
15	4782-4785delAGCC	p.Ala1595ArgfsX54	Frameshift	41	Yes	100
(I 4)	532-2A>C		Splice-site	39	Yes	100
(I 4)	532-2A>C		Splice-site	38	No	100
(I 14)	1958+3A>T1		Splice-site	19	No	740

¹APC mutation identified as novel mutations;

²APC mutation located in MCR. CHRPE: Congenital retinal pigment epithelial hypertrophy; CRC: Colorectal cancer; PTC: Papillary thyroid cancer; DT: Desmoid tumor.