Clinical course and outcome of patients with high-level microsatellite instability cancers in a real-life setting: a retrospective analysis

Figures & data

Table 1 Characteristics of all MSI-H patients

Characteristic	All MSI-H patients (N=73)	%
Mean age at first disease (years)	52.3 (27–91)
First diagnosis ≤50 years	33	54.8
Female gender	49	67.1
Germline pathogenic MMR mutation	36	49.3
Missing proteins (IHC)
MLH1/PMS2	37	50.6
MSH2/MSH6	18	24.6
Missing data	18	24.6
Number of malignancies per patient
1	48	65.7
2	12	16.4
3	5	6.8
>4	8	10.9
Patients with
Colorectal cancer	56	76.7
GY cancer (all women =49)	18	36.7
GY cancer (all women no	18	45
prophylactic surgery =40)
GU (excluding prostate)	4	5.5
Breast (all women)	9	18.3
Skin (all)	7	9.5
Other	9	12.3
Brain	0	0
Extracolonic malignancy only	17	23.2

Note: Data presented as mean (range) or n.

Abbreviations: MSI-H, high-level microsatellite instability; MMR, mismatch repair; IHC, immunohisto chemistry; GY, gynecological; GU, genitourinary.

Table 2 Characteristics of all MSI-H CRC patients

Characteristic	All CRC patients (N=56, tumors =70)a	Stage 1 (N=3)b	Stage 2 (N=35)b	Stage 3 (N=11)b	Stage 4 (N=15)c
Mean age at first CRC diagnosis (years)	53.4 (27–91)	50 (47–53)	51.8 (27–86)	63.7 (47–91)	52.3 (27–91)
Diagnosis of first CRC ≤50 years	24 (43%)	2 (67%)	16 (46%)	2 (18%)	8 (53%)
Germline pathogenic MMR mutation	25 (45%)	2 (67%)	17 (49%)	3 (27%)	6 (40%)
Tumor site (N=70)
Right	40 (57%)	2 (67%)	26 (74%)	4 (36%)	9 (60%)
Transverse	6 (9%)	0	5 (14%)	0	0
Left	13 (19%)	1 (33%)	3 (9%)	4 (36%)	5 (33%)
Rectum	4 (6%)	0	1 (3%)	2 (18%)	1 (7%)
Missing data	7 (10%)	0	0	1 (9%)	0
Tumor differentiation (N=70)
Well moderate	42 (60%)	1 (33%)	28 (80%)	6 (54.5%)	6 (40%)
Poor	13 (19%)	0	2 (6%)	5 (45.5%)	8 (53%)
Missing data	15 (21%)	2 (67%)	5 (14%)	0	1 (7%)
Recurrent metastatic disease	NA	0	2 (6%)	6 (54.5%)	NA
Patients with synchronous tumors	6 (11%)	0	4 (11%)	1 (9%)	1 (7%)
Patients with metachronous tumors	4 (7%)	0	3 (9%)	1 (9%)	0
First metastatic site
Liver	NA	NA	NA	NA	3 (20%)
Lung	NA	NA	NA	NA	1 (7%)
Retroperitoneum (including LN)	NA	NA	NA	NA	4 (27%)
Peritoneum	NA	NA	NA	NA	3 (20%)
Bones	NA	NA	NA	NA	1 (7%)
Ovary	NA	NA	NA	NA	1 (7%)
Other/multiple sites	NA	NA	NA	NA	2 (13%)
Metastasectomy	NA	NA	NA	NA	8 (53%)

Notes: Data presented as mean (range) or n (%).

a Fifty-six patients had developed a total of 70 CRCs.

b Stage at first CRC diagnosis.

c Stage 4 data include stage 4 patients at diagnosis and recurrence.

Abbreviations: MSI-H, high-level microsatellite instability; CRC, colorectal cancer; MMR, mismatch repair; NA, not applicable; LN, lymph nodes.

Table 3 Patients with gynecological malignancies

Characteristic	Number of patients (N=18)	%
Mean age at diagnosis (years)	52.8 (40–86)
Diagnosis ≤50 years	6	33.3
Pathogenic germline MMR mutation	12	66.7
Tumor sitea
Uterine	16	84.2
Ovary	2	10.5
Cervix	1	5.3
Stage at diagnosis
1	15	78.9
2	0	0
3	1	5.3
4	0	0
Missing data	3	15.8
Adjuvant chemotherapy	5	27.8
Adjuvant radiotherapy	7	38.8
Recurrent metastatic disease	1	5.5

Notes: Data presented as mean (range) or n.

a One patient had synchronous ovarian and uterine tumors.

Abbreviation: MMR, mismatch repair.

Table 4 Patients with breast cancers

Characteristic	Number of patients (N=9)	%
Mean age at diagnosis (years)	61.7 (43–78)
Diagnosis ≤50 years	2	22.2
Pathogenic germline MMR mutation	5	55.5
Stage at diagnosis
1	4	44.5
2	1	11
3	4	44.5
4	0	0
Histology
Invasive ductal carcinoma	7	77.8
Invasive lobular carcinoma	1	11
Papillary carcinoma	1	11
Receptors
ER positive	5	55.5
HER2 positive	0	0
Triple negative	2	22.2
Bilateral breast cancer	2	22.2
Recurrent metastatic disease	0	0

Note: Data presented as mean (range) or n.

Abbreviations: MMR, mismatch repair; ER, estrogen receptor; HER2, human epidermal growth factor receptor 2.