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

Nielsen, Maartje; de Miranda, Noel FCC; van Puijenbroek, Marjo; Jordanova, Ekaterina S; Middeldorp, Anneke; van Wezel, Tom; van Eijk, Ronald; Tops, Carli MJ; Vasen, Hans FA; Hes, Frederik J; Morreau, Hans

doi:10.1186/1471-2407-9-184

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.Y179C^b	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.Y179C^b	c.933+3A>C	AC	51	T3N0M0	B2	mod	No	0	+	yes
10	19053.2	p.Y179C^b	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.Y179C^b	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.G396D^b	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.Y179C^b	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.G396D^b	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.Y179C^b	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.Y179C^b	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.G396D^b	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	2^nd 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.Y179C^b	p.Y179C	R	43								CRC metastasis age 63
57				'right'	53	TxN1M1	D
58				'right'	59

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.
^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).

Back to article page

ISSN: 1471-2407

Contact us

Submission enquiries: bmccancer@biomedcentral.com
General enquiries: ORSupport@springernature.com

BMC Cancer

Contact us