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Table 1 Overview of the study participants and their clinicopathological features overall and by tumor type

From: A tumor focused approach to resolving the etiology of DNA mismatch repair deficient tumors classified as suspected Lynch syndrome

 

CRC

EC

SST

Total

Number of individuals, n (%)

78 (57.8%)

33a (24.4%)

24b (17.8%)

135 (100%)

Number of tumors tested, n (%)

80 (58.4%)

33 (24.1%)

24 (17.5%)

137 (100%)

Study, n (%)

 ANGELS

79 (98.7%)

33 (100%)

0 (0%)

112 (81.8%)

 MTS

1 (1.3%)b

0 (0%)

24 (100%)

25 (18.2%)

Sex, n (%)

 Male

40 (50%)

0 (0%)

20 (83.3%)

60 (43.8%)

 Female

40 (50%)

33 (100%)

4 (16.7%)

77 (56.2%)

Age at diagnosis

 Mean ± SD

47.4 ± 13.2

61.0 ± 9.3

65.2 ± 10.7

53.8 ± 14.1

 Min.—Max

24–74

41–79

39–81

24–81

  ≤ 50 years

46 (57.5%)

3 (9.1%)

4 (16.7%)

53 (38.7%)

  > 50 years

34 (42.5%)

30 (90.9%)

20 (83.3%)

84 (61.3%)

MMR IHC pattern of losse

 MLH1/PMS2

37 (46.3%)

19 (57.6%)

7 (29.2%)

63 (46%)

 MSH2/MSH6

29 (36.3%)

5 (15.2%)

15 (62.5%)

49 (35.8%)

 MSH6

6 (7.5%)

9 (27.3%)

1 (4.2%)

16 (11.7%)

 PMS2

4 (5%)

0 (0%)

1 (4.2%)

5 (3.6%)

 MSH6 and PMS2

2 (2.5%)

0 (0%)

0 (0%)

2 (1.5%)

 Loss of all four MMR proteins

2 (2.5%)c,d

0 (0%)

0 (0%)

2 (1.5%)

Colorectal cancer

 Tumor site, n (%)

  Proximal

55 (68.8%)

–

–

–

  Distal

16 (20%)

–

–

–

  Rectum

9 (11.2%)

–

–

–

 Tumor grade, n (%)

  Well differentiated

8 (10%)

–

–

–

  Moderately differentiated

43 (53.8%)

–

–

–

  Poorly differentiated

26 (32.5%)

–

–

–

  Undifferentiated

1 (1.2%)

–

–

–

  Unknown

2 (2.5%)

   

Histological type, n (%)

 Adenocarcinoma

67 (83.8%)

–

–

–

 Mucinous

12 (15%)

–

–

–

 Other

1 (1.2%)

–

–

–

Endometrial cancer

 FIGO staging, n (%)

  Stage 1

–

19 (57.6%)

–

–

  Stage 2

–

8 (24.2%)

–

–

  Stage 3

–

6 (18.2%)

–

–

Histological type, n (%)

  Endometrioid

–

30 (90.9%)

–

–

  Clear cell

–

2 (6.1%)

–

–

  Carcinosarcoma

–

1 (3%)

–

–

Sebaceous skin tumor

 Tumor site, n (%)

  Head and neck

–

–

14 (58.3%)

–

  Trunk and limb

–

–

10 (41.7%)

–

Histological type, n (%)

  Sebaceoma

–

–

1 (4.2%)

–

  Sebaceous adenoma

–

–

21 (87.5%)

–

  Sebaceous carcinoma

–

–

2 (8.3%)

–

  1. CRC colorectal cancer, EC endometrial cancer, SST sebaceous skin tumor, ANGELS Applying Novel Genomic approaches to Early-onset and suspected Lynch Syndrome colorectal and endometrial cancers, MTS Muir-Torre Syndrome, SD standard deviation, AM II Amsterdam II criteria, FIGO International Federation of Gynecology and Obstetrics, MMR DNA mismatch repair, IHC immunohistochemistry
  2. aOne individual developed an EC @55 and a CRC @58 years old (person was counted in ECs because the EC had a younger age at diagnosis)
  3. bOne individual developed a CRC @55 and an SST @61 (person counted in SSTs because the person was recruited through the MTS study)
  4. cClinical testing identified a germline MSH2 pathogenic variant resulting in loss of MSH2/MSH6 protein expression. The cause for MLH1/PMS2 loss, however, was unexplained and therefore categorised as SLS
  5. dTotal loss of MLH1/PMS2 staining in malignant mass with loss of MSH2/MSH6 staining in less differentiated areas of the tumor
  6. eMMR IHC results determined prior to study
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Journal of Translational Medicine

ISSN: 1479-5876

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