Lynch syndrome association and clinicopathological features in early-onset colorectal cancers: A single-center retrospective study

Table 1 Descriptive statistics and clinical features of the entire study population are summarized, n (%)

Descriptive and clinical features
Age group, median (IQR)	44 (10)
21-30	5 (3.8)
31-40	43 (32.8)
41-50	83 (63.4)
Sex
Male	70 (53.4)
Female	61 (46.6)
Survey (month), median (IQR)	44.5 (44.7)
Tumor diameter (cm), median (IQR)	5 (2.5)
Multiple colorectal tumor
Negative	127 (96.9)
Positive	4 (3.1)
Right colon and transvers colon
Negative	81 (60.0)
Positive	54 (40.0)
Left colon and sigmoid colon
Negative	90 (66.6)
Positive	45 (33.3)
Rectosigmoid colon and rectum
Negative	99 (73.3)
Positive	36 (26.6)
Differentiation degree
Well and moderately	106 (81.5)
Poor	24 (18.5)
Adenocarcinoma component in the tumor
Negative	6 (4.6)
Positive	125 (95.4)
Musinous component in the tumor
Negative	92 (70.2)
Positive	39 (29.8)
Signet-ring cell carcinoma component in the tumor
Negative	122 (93.1)
Positive	9 (6.9)
Lymphovascular invasion
Negative	73 (55.7)
Positive	58 (44.3)
Perineural invasion
Negative	90 (68.7)
Positive	41 (31.3)
Recurrens1
Negative	103 (78.6)
Positive	28 (21.4)
2nd tumor
Negative	120 (91.6)
Positive	11 (8.4)
Family history
Negative	44 (52.4)
Positive	40 (47.6)
LN invasion
Negative	73 (56.5)
Positive	58 (43.5)
T stage
T1	1 (0.8)
T2	9 (6.9)
T3	81 (61.8)
T4a ve T4b	40 (30.5)
N stage
N0	64 (48.9)
N1a, N1b ve N1c	40 (30.5)
N2a ve N2b	27 (20.6)
Metastasis
Negative	99 (75.6)
Positive	32 (24.4)
Stage
1	8 (6.1)
2	48 (37.4)
3	43 (32.8)
4	32 (23.7)
Number of positive LNs, median (IQR)	0 (3)
Number of LNs removed, median (IQR)	20.5 (17)

¹Patients with postoperative metastasis were accepted as relapsed.

IQR: Interquartile range; LN: Lymph node.

Table 2 Clinicopathological comparisons between the two groups based on microsatellite status determined by immunohistochemistry results, n (%)

Descriptive and clinical features	Microsatellite instabil	Microsatellite stabile	P value
Age group, median (IQR)	42 (7)	46 (10)	0.0351
21-30	0 (0)	5 (5)
31-40	14 (46.7)	29 (29)
41-50	16 (53.3)	66 (66)
Sex
Male	21 (70)	48 (48)	0.0342
Female	9 (30)	52 (52)
Survey (month), median (IQR)	52 (42.5)	38 (45)	0.0201
Right colon and transvers colon
Negative	10 (31.2)	71 (69.6)	< 0.0012
Positive	22 (68.7)	31 (30.3)
Rectosigmoid colon and rectum
Negative	29 (90.6)	69 (67.6)	0.0112
Positive	3 (9.3)	33 (29.4)
Musinous component in the tumor
Negative	15 (50)	77 (77)	0.0042
Positive	15 (50)	23 (23)
LN metastasis
Negative	22 (73.3)	51 (51)	0.0312
Positive	8 (26.7)	49 (49)
Number of positive LNs, median (IQR)	0 (1)	0 (3)	0.0311
T stage			-
T1	0 (0)	1 (1)
T2	2 (6.7)	7 (7)
T3	21 (70)	60 (60)
T4a ve T4b	7 (23.3)	32 (32)
N stage			-
N0	21 (70)	42 (42)
N1a, N1b ve N1c	6 (20)	34 (34)
N2a ve N2b	3 (10)	24 (24)
Metastasis
Negative	28 (93.3)	70 (70)	0.0092
Positive	2 (6.7)	30 (30)
Stage			0.0122
1	2 (6.7)	6 (6)
2	18 (60)	30 (30)
3	8 (26.7)	35 (35)
4	2 (6.7)	29 (29)
2nd tumor
Negative	23 (76.7)	96 (96)	0.0033
Positive	7 (23.3)	4 (4)
Next-Generation Sequencing status			< 0.0013
Mutasyon positive	13 (76.5)	1 (2.7)
Mutasyon negative	4 (23.5)	35 (97.3)

¹Mann-Whitney U test.

²Pearson ki-kare test.

³Fisher exact test.

IQR: Interquartile range; LN: Lymph node.

Table 3 Lynch syndrome patients, detailed information

Cases	Sex	Age	Location	Immunohistochemistry-mismatch repair	Next-Generation Sequencing	Ex-on	Mutation	Tumor	Family history
1	Female	36	1	MSH2/MSH6	MSH2	13	c.2074G > A p.P316 L	CRC	Multiple CRC and gastric cancer
2	Male	43	1	MLH1/PMS2	MLH1	15	c.1676T > G p.L559R	CRC	Multiple CRC
3	Female	38	1	MSH2/MSH6	MSH2	12	c.1861C > T p.Arg621Ter	CRC, EC	CRC and EC
4	Male	46	1 ve 1	MSH2/MSH6	MSH2	12	c.1799C > T p.A600V	Synchron CRC, urinary tract ca	Father with CRC, mother with EC
5	Male	46	1	0	MSH6	4	c.2194C > T p.R732*	CRC	Father with CRC, Grandma and 3 aunt with breast cancer
6	Male	42	1	MSH2/MSH6	MSH2	1	c.70C > T p.Gln24Ter	CRC	0
7	Female	45	2	MSH2/MSH6	MSH2, MLH1	12 1	c.1861C > T p.Arg621Terc49A > C/p.Asn17His	CRC	Brother, sister and her doughter with CRC
8	Male	39	1	PMS2	PMS2	3	c.182delA p.Y61fs*15	CRC	Uncle with CRC
9	Male	40	2	MLH1/PMS2	MLH1	Splice site	c.1990-1G > C	CRC	Father and brother with CRC sister with renal cancer
10	Male	40	1	MLH1/PMS2	MLH1, PMS2	İntron 17 exon 8	c.1990-1G > C c1609G > A/p.Glu537 Lys	CRC	Father and brother with CRC sister with renal cancer
11	Male	34	2	MSH2/MSH6	MSH2	5	c.942G > A p.Q314Q	CRC	Father and uncle with CRC
12	Male	44	2	MSH2/MSH6	MSH2	12	C.1927G > T p.E643*	CRC	Father and uncle with gastric cancer
13	Male	43	1	MSH2/MSH6	MSH6	4	c.660A > C p.E220D	CRC, small intestine cancer	Father, uncle and aunt with CRC
14	Male	37	1	MSH2/MSH6	MSH2	2	c.352dupT, p.Y118fs*5	CRC	0

1: Right colon and transvers colon (location).

2: Left colon and sigmoid colon (location).

CRC: Colorectal cancer; EC: Endometrial cancer.