Table 2 Clinical characteristics of patients with unusual and classical MMR-D tumors.

From: An unusual phenotype occurs in 15% of mismatch repair-deficient tumors and is associated with non-colorectal cancers and genetic syndromes

Characteristics

Unusual MMR-D (n = 89)

Typical MMR-D (n = 496)

p

Mean age at diagnosis (years)

57.5

59.7

0.15

Gender (%)

 Female

57.3 (n = 51)

56 (n = 278)

0.83

 Male

43.7 (n = 38)

44 (n = 218)

–

Histological type (%)

 Colorectal carcinoma

67.4 (n = 60)

86.9 (n = 431)

<0.001

 Non-colorectal GI carcinoma

9 (n = 8)

3.6 (n = 18)

–

 Endometrial carcinoma

11.2 (n = 10)

6.5 (n = 32)

–

 Other tumors

12.4 (n = 11)

3 (n = 15)

–

Stage at diagnosis (%)

 0 to III

85.4 (n = 76)

81 (n = 402)

0.74

 IV

12.4 (n = 11)

15.7 (n = 78)

–

 Missing data

2.2 (n = 2)

3.2 (n = 16)

–

Genetic investigation (%)

 Yes

60.7 (n = 54)

52.8 (n = 262)

0.17

 No

39.3 (n = 35)

47.2 (n = 234)

–

Genetic syndrome identified (%)

 Yes

44.9 (n = 40)

21.4 (n = 106)

<0.001

 Lynch Syndrome

42.7 (n = 38)

21.4 (n = 106)

–

 POLE

1.1 (n = 1)

0

–

 CMMR-D

1.1 (n = 1)

0

–

 No

55.1 (n = 49)

78.6 (n = 390)

 

Genetic syndrome identified among patients investigated (%)

   

 Yes

74.1 (n = 40)

40.5 (n = 106)

<0.001

 No

25.9 (n = 14)

59.5 (n = 156)

–

  1. GI gastrointestinal, POLE polymerase E deficiency syndrome, CMMR-D constitutional mismatch repair deficiency.
  2. Other tumors included: for the 11 unusual MMR-D: 6 sebaceous tumors, 1 urothelial carcinoma, 1 glioblastoma, 2 ovarian carcinomas and 1 sarcoma and for the 15 classical MMR-D: 6 sebaceous tumors, 3 urothelial carcinomas, 1 melanoma, 4 ovarian carcinomas and 1 neuroendocrine tumor.
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