Microsatellite instability and MBD4 mutation in unselected colorectal cancer.
BACKGROUND
We investigated the prognostic significance of microsatellite instability (MSI) and the association with clinicopathological factors in colorectal cancer, and further identified MBD4 mutations and their clinicopathological significance.


METHODS
MSI was analyzed in 201 colorectal cancers. Sequencing analysis of MBD4 was performed in 26 MSI and 28 microsatellite stable (MSS) tumors.


RESULTS
Twenty-seven tumors (13.4%) were MSI but did not correlate with improved survival. MSI was significantly correlated with proximal colon tumors (p < 0.001), poor differentiation or mucinous type (p = 0.005) and multiple tumors (p = 0.04). MBD4 mutations were found in 15% MSI but not in MSS tumors. The mutated cases showed female overrepresentation, proximal site and poorly-differentiated/mucinous type.


CONCLUSIONS
MSI was not correlated with survival, but shared other features associated with MSI in colorectal cancer as demonstrated by others. The clinicopathological variables associated with the MBD4 mutations were probably the reflection of MSI features.
Evertson
Sofia
S
Division of Oncology, Department of Biomedicine and Surgery, Linköping University, S-581 85 Linköping, Sweden. sofev@ibk.liu.se
Wallin
Asa
A
Arbman
Gunnar
G
Rütten
Sabine
S
Emterling
Anna
A
Zhang
Hong
H
Sun
Xiao-Feng
XF
D000368:Aged; D015179:Colorectal Neoplasms / Q000201:enzymology / Q000235:genetics* / Q000473:pathology; D004706:Endodeoxyribonucleases / Q000235:genetics*; D005260:Female; D006801:Humans; D008297:Male; D018895:Microsatellite Repeats / Q000235:genetics*; D009154:Mutation
D004706:Endodeoxyribonucleases; C118712:MBD4 protein, human