Repeated anastomotic recurrence of colorectal tumors: Genetic analysis of two cases

Table 1 Microsatellite markers used in the loss of heterozygosity study, with relevant cytogenetic locations, putative genes involved and their function, and references to papers describing a role for colonic carcinogenesis

Microsatellite Markers	Cytogenetic band	Gene	Function	Ref.
BAT40	1p13.1			[8]
MYC-L	1p34			[8]
BAT 26	2p16.3	hMSH2	Mismatch repair enzyme	[8]
D2S123	2p16			[8]
D3S1481	3p14	FHIT	Histidine triad gene family (purine metabolism)	[9]
D4S2397	4p15.2			[10]
D5S346	5q21	APC	Antagonist of the Wnt signaling pathway	[8]
D10S1671	10q25
D10S169	10q26.3	MGMT	DNA defense vs O6-methylguanine	[11]
D10S1765	10q23.3	PTEN	Protein tyrosine phosphatase	[12]
D16S421	16q22	CDH1	Ca++ dependent cell-cell adhesion glycoprotein
D16S402	16q23-q24
D16S507	16q23.2
D17S250	17q21			[8]
TP53ALU	17p13.1	TP53	Tumor protein “guardian of the genome”
TP53	17p13	TP53	Tumor protein “guardian of the genome”	[13]
D18S452	18p11.23			[14]
D18S53	18p11.22-p11			[13]
D18S64	18q21	DCC	Receptor for netrin 1	[15]
D18S857	18q22.1	DCC	Receptor for netrin 1
DXYS233	Xp22.32-Yp11.3			[16]
SHOX	Xp22.3			[16]
DXYS154	Xqter-Yqter			[16]
DXS8009	Xq25-q26
DXS8098	Xq24-q25

Table 2 Results of loss of heterozygosity analysis with 25 microsatellite markers amplified in the present cases

	Case 1(adenocarcinoma of the sigmoid colon – pT2N0M0)												Case 2(adenocarcinoma of the rectum – pT1N0M0)
	Initial surgery (left hemicolectomy)				Second procedure (colorectal resection) 12 mo after initial surgery (a.i.s.)			Third procedure (colorectal resection) 21 mo a.i.s.		Follow up (colonoscopy) 134 mo a.i.s.			Initial surgery (proctocolectomy)			Second procedure (endosc. resection) 22 mo a.i.s.	Third procedure (endosc. resection) 26 mo a.i.s.	Follow up (colono-scopy) 40 mo a.i.s.
	Prim. tumor	Peritu. mucosa	Distal mucosa	Prox. mucosa	First recurr.	Peritu. mucosa	Distant mucosa	Second recurr.	Aden	Anast. mucosa	Rectal mucosa	Colon mucosa	Prim. tumor	Peritu. mucosa	Aden.	Adenoma	Adenoma	Anast. mucosa
1p13.1	LOH	NO LOH	NO LOH	NO LOH	NO LOH	NO LOH	NO LOH	NO LOH	NO LOH	NO LOH	LOH	NO LOH	NO LOH	NO LOH	NO LOH	NO LOH	NO LOH	NO LOH
1p34	LOH	NO LOH	NO LOH	NO LOH	NO LOH	NO LOH	NO LOH	NO LOH	NO LOH	NO LOH	NO LOH	NO LOH	LOH	LOH	LOH	LOH	NO LOH	NO LOH
2p16.3	NO LOH	NO LOH	NO LOH	NO LOH	NO LOH	NO LOH	NO LOH	NO LOH	NO LOH	NO LOH	NO LOH	NO LOH	NO LOH	NO LOH	NO LOH	NO LOH	NO LOH	NO LOH
2p16	NI	NI	NI	NI	NI	NI	NI	NI	NI	NI	NI	NI	NI	NI	NI	NI	NI	NI
3p14	NO LOH	NO LOH	NO LOH	NO LOH	NO LOH	NO LOH	NO LOH	NO LOH	NO LOH	NO LOH	NO LOH	NO LOH	LOH	NO LOH	LOH	LOH	LOH	NO LOH
4p15.2	NO LOH	NO LOH	LOH	NO LOH	NO LOH	NO LOH	NO LOH	NO LOH	NO LOH	NO LOH	NO LOH	LOH	NI	NI	NI	NI	NI	NI
5q21	LOH	NO LOH	NO LOH	NO LOH	LOH	NO LOH	NO LOH	LOH	LOH	NO LOH	NO LOH	NO LOH	NO LOH	NO LOH	NO LOH	NO LOH	NO LOH	NO LOH
10q23.3	NI	NI	NI	NI	NI	NI	NI	NI	NI	NI	NI	NI	LOH	LOH	NO LOH	NO LOH	NO LOH	NO LOH
10q25	NI	NI	NI	MSI	NI	NI	NI	NI	NI	NI	NI	NI	NO LOH	NO LOH	NO LOH	NO LOH	NO LOH	NO LOH
10q26.3	NO LOH	NO LOH	LOH	LOH	NO LOH	NO LOH	NO LOH	NO LOH	NO LOH	NO LOH	NO LOH	NO LOH	NI	NI	NI	NI	NI	NI
16q22	NI	NI	NI	NI	NI	NI	NI	NI	NI	NI	NI	NI	NI	NI	NI	NI	NI	NI
16q23.2	NO LOH	NO LOH	NO LOH	MSI	NO LOH	NO LOH	NO LOH	NO LOH	NO LOH	NO LOH	NO LOH	NO LOH	NO LOH	NO LOH	NO LOH	NO LOH	NO LOH	NO LOH
16q23 -q24	NO LOH	LOH	LOH	MSI	NO LOH	LOH	LOH	NO LOH	NO LOH	LOH	NO LOH	NO LOH	NO LOH	NO LOH	NO LOH	NO LOH	NO LOH
17p13	NO LOH	NO LOH	NO LOH	NO LOH	NO LOH	NO LOH	NO LOH	NO LOH	NO LOH	NO LOH	NO LOH	NO LOH	NI	NI	NI	NI	NI	NI
17p13.1	NO LOH	NO LOH	NO LOH	NO LOH	NO LOH	NO LOH	NO LOH	NO LOH	NO LOH	NO LOH	NO LOH	NO LOH	NO LOH	NO LOH	NO LOH	NO LOH	NO LOH	NO LOH
17q21	NO LOH	NO LOH	NO LOH	MSI	NO LOH	NO LOH	NO LOH	NO LOH	NO LOH	NO LOH	NO LOH	NO LOH	NO LOH	NO LOH	NO LOH	NO LOH	NO LOH	NO LOH
18p11.23	LOH	NO LOH	NO LOH	NO LOH	LOH	NO LOH	NO LOH	LOH	LOH	LOH	NO LOH	NO LOH	NO LOH	NO LOH	NO LOH	NO LOH	NO LOH	NO LOH
18p11.22 -p11	NO LOH	NO LOH	LOH	NO LOH	NO LOH	NO LOH	NO LOH	NO LOH	NO LOH	NO LOH	NO LOH	NO LOH	NI	NI	NI	NI	NI	NI
18q21	NO LOH	LOH	MSI	LOH	NO LOH	NO LOH	NO LOH	NO LOH	LOH	NO LOH	LOH	NO LOH	NI	NI	NI	NI	NI	NI
18q22.1	NO LOH	NO LOH	NO LOH	NO LOH	NO LOH	NO LOH	NO LOH	NO LOH	NO LOH	NO LOH	NO LOH	NO LOH	NO LOH	NO LOH	NO LOH	NO LOH	NO LOH	NO LOH
Xp22.32- Yp11.3	NI	NI	NI	MSI	NI	NI	NI	NI	NI	NO LOH	NO LOH	NO LOH	NO LOH	LOH	NO LOH	NO LOH	NO LOH	NO LOH
Xp22.32- Yp11.3	NO LOH	NO LOH	LOH	NO LOH	NO LOH	LOH	NO LOH	NO LOH	NO LOH	LOH	NO LOH	NO LOH	NO LOH	NO LOH	NO LOH	NO LOH	LOH	LOH
Xqter- Yqter	NI	NI	NI	NI	NI	NI	NI	NI	NI	NI	NI	NI	NO LOH	LOH	NO LOH	NO LOH	NO LOH	NO LOH
Xq24-q25	NI	NI	NI	NI	NI	NI	NI	NI	NI	NI	NI	NI	NI	NI	NI	NI	NI	NI
Xq25-q26	NO LOH	NO LOH	NO LOH	NO LOH	NO LOH	NO LOH	NO LOH	NO LOH	NO LOH	NO LOH	NO LOH	NO LOH	NI	NI	NI	NI	NI	NI
FAL (%)	23.5	12.5	29.4	13.3	11.1	11.1	5.9	11.1	16.7	16	10.5	5.2	20	26.7	13.3	13.3	13.3	6.25

LOH: Loss of heterozygosity; NO LOH: Retention of heterozygosity; NI: Not informative; MSI: Microsatellite instability; FAL%: Fractional allelic loss (No. of markers with LOH/total No. of informative markers).