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Table 1 MAP patients and histological features of colorectal carcinomas

From: Colorectal carcinomas in MUTYH-associated polyposis display histopathological similarities to microsatellite unstable carcinomas

TumourNr Fam
nr
MUTYH
Mut 1 a
MUTYH
Mut 2
Loc CRC Age CRC TNM stage MAC stage† Differentiation†† Mucinous Chrohn's like infiltrate* TILs** Nec-
rosis~
Remarks/other cancers
1 61883.1 p.R247X p.P405L C 48 T4N0M0 B3 mod No 1 no yes  
2 19036.2 p.Y179C p.Y179C C 41 T2N2M1 D mod No 0 no no  
3     C 41 T2N2M1 D mod No 2 no no  
4     R/S 41 T2N2M1 D muc yes, >50% 1 no no  
5     AC 41 T2N2M1 D muc yes, >50% 1 no yes  
6 19049.1 p.Y179Cb p.Y179C SF 56 T3N0M0 B2       Laryngeal carc. age 57
7     R 69 T3N0M0 B2 mod No 2 + no Urothelial carc. age 67
8 19049.2 p.Y179C p.Y179C AC 53 T3N0M0 B2 mod yes, <50% 2 ++ no  
9 19053.4 p.Y179Cb c.933+3A>C AC 51 T3N0M0 B2 mod No 0 + yes  
10 19053.2 p.Y179Cb c.933+3A>C C 53 T3N0M0 B2 mod No 2 + yes  
11 19221.1 p.Y179C p.P405L C 56 T3N0M0 B2 muc yes, >50% 0 + yes Duodenal carc age 56
12 20090.1 p.Y179C p.P405L AC 50 T3N0M0 B2 mod yes, <50% 2 ++ yes Exo1 mutation IVS12-1 G>C (Jagmohan et al.)
13 20090.6 p.Y179C p.P405L R/S 39 T3N0M1 D poor No 0 no yes Exo1 mut. IVS12-1G>C
14 52240.1 p.P405L p.P405L R 58 T3N0M0 B2 muc yes, >50% 0 + no Breast carc age 54
15 52596.1 p.Y179C p.Y179C C 44 T3N0M0 B muc yes, >50% 2 ++ yes  
16 52654.1 p.P405L p.P405L AC 37 T1N2M0 C1 mod No 2 + no  
17     AC 37 T2N2M0 C1 mod No   + no  
18 53029.1 p.Y179Cb p.P405L C 41 T3N2M0 C2 mod No 1 + no  
19 53231.1 p.G396D p.G396D AC 59 T2N0M0 B1 mod No 0 + yes  
20 54092.2 p.G396Db p.G396D C 60 T2N0M0 B1 mod No 1 + no  
21 54178.1 p.G396D p.P405L S 44 T3N0M0 B2 muc yes, >50% 2 no no  
22 54186.1 p.Y179C p.Y179C AC 45 T4NxM1 D mod No 0 + no Basal cell carc. age 42
23 54186.6 p.Y179Cb p.Y179C S 43 T3N0M0 B2 mod No 0 no no  
24     HF 43 T3N0M0 B2 mod yes, <50% 1 + no  
25 54245.1 p.Y179C p.Y179C R 54         Breast carc age 77&79
26     'left' 57         Basal cell carc. age 53
27     I 77         
28     AC 77 T3N0M0 B2 mod yes, <50% 1 + no  
29 54962.10 p.G396Db p.P405L AC 51 T2N1M0 C1 muc yes, >50% 0 ++ no  
30 55247.1 p.Y179C p.R247X C 46 T2N0M0 B1 muc yes, >50% 2 ++ yes  
31 55535.1 p.Y179C p.Y179C C 45 T3N2M1 D mod yes, <50% 2 + yes  
32 56081.1 p.Y179C p.G396D HF 59 T3N0M0 B2 mod No 2 no yes  
33 56081.2 p.Y179Cb p.G396D AC 49 T3N1M0 C2 mod yes, <50% 2 ++ yes  
34 56566.1 p.Y179C p.G396D TC 67 T3N1M0 C2 mod No 1 + yes  
35 56641.1 p.Y179C p.G396D C 43 T3N0M0 B2 mod yes, <50% 2 + no  
36     TC 46 T3N0M0 B2 mod No 1 + no  
37 57139.1 c.1145delc p.G396D S 42 T2N0M0 B mod No 1 no no  
38     S 42 T1N0M0 A mod yes, <50%   + no  
39 57246.1 p.Y179C p.Y179C C 65 T2N0M0 B1 mod yes, <50% 0 + no Duodenal carc age 64
40     AC 65 T2N0M0 B1 well No 0 ++ no  
41 57249.1 p.Y179C p.Y179C R/S 49 T3N0M0 B2 mod-poor No 1 +   Esophageal carc. (Barret) age 59
42 57249.13 p.Y179Cb p.Y179C R 52 T2N0M0 B1 mod No 0 +   
43 57249.9 p.Y179C p.Y179C C 49 T2N1M0 C1 mod No 1 no no  
44 60322.4 p.Y179C p.G396D 'right' 39 T4N1M0 C3 mod No 0 + yes  
45 52638.4 p.G396Db p.R109W C 52 T3N0M1 D poor No 1 + yes  
46 57449.1 p.Y179C p.Y179C HF 45 T3N0M0 B2 muc yes, >50% 0 + no 2nd carc.(rectum) age 69
47 19047.1 p.G396D p.G396D 'right' 70 TxN1M0 C       
48 19106.1 p.Y179C p.Y179C R 40 TxN0M0 B       
49 57591.1 p.P405L p.Y179C C 40 TxN1M1 D       
50 60406.1 p.E480del p.E480del AC 51 T3N0M0 B2       
51 51063.1 p.Y179C p.Y179C SF 44 T1N0M0 A       
52 54140.1 p.E410fs p.E410fs R 42 TxN0M0 B       Cervical carc. age 27
53 57135.1 p.Y179C p.Y179C HF 46 TxN1M1 D       
54 55356.1 c.1145delc p.P405L R 42 TxN0M0 B       
55 53276.1 p.G396D p.P405L C 48 T1N0M0 A       Basal cell carc. age 58
56 19247.3 p.Y179Cb p.Y179C R 43         CRC metastasis age 63
57     'right' 53 TxN1M1 D       
58     'right' 59         
  1. Blank cells: not done/not ascertainable, CRC = colorectal cancer, R = rectum, S = sigmoid colon, DC = descending colon, SF = splenic flexure, TC = transverse colon, HF = hepatic flexure, AC = ascending colon, C = cecum, I = ileum.
  2. aAccording to the recently changed MUTYH Nomenclature (Human Genome Variation Society), adding 14 amino acids after amino acid position 53. For example: Y165C>Y179C and G382D>G396D, banalysis in DNA from FFPE material. MAC = Modified Astler-Coller, ††mod = moderate, muc = mucinous, *0 = none, 1 = mild reaction, 2 = intense reaction (conspicuous),** tumour infiltrating lymfocytes 0 = none/few, + = moderate, ++ = marked, ~yes = focal necrosis (dirty necrosis within glandular lumina).