Table 1

Histopathologic features, BAX and IGF2R microsatellite mutation status, BRAF mutation status, MMR protein expression and mutation status in the rectal and sigmoid MSI-H carcinomas from the test series

Tumor location

(sample ID)

Morphology

Differentiation

Growth pattern

Lymphocytic infiltration

Mucinous

BAX

IGF2R

KRAS

BRAF

MMR protein expression

MMR germline mutation


Rectum (T8)

Exophytic

Moderate/well

Expanding

Moderate

No

Positive

Negative

Negative

Negative

MSH2/MSH6 absence

MSH2 c.388_389del

Rectum (T20)

Ulcerated

Moderate/well

Expanding

Moderate

No

Negative

Negative

Negative

Negative

Normal

N.a.

Rectum (T41)

Ulcerated/exophytic

Moderate/well

Expanding

Moderate

Yes

Positive

Positive

Negative

Negative

MSH2/MSH6 absence

Negative

Sigmoid (T27)

Ulcerated

Well

Infiltrating

Sparse

No

Negative

Negative

Negative

Negative

Normal

N.a.

Sigmoid (T33)

Ulcerated/exophytic

Moderate/well

Expanding/infiltrating

Sparse

No

Negative

Negative

Positive

Negative

Normal

N.a.

Sigmoid (T35)

Exophytic

Poor

Infiltrating

Sparse

No

Negative

Negative

Negative

Positive

Normal

N.a.


MMR - Mismatch repair. MSI-H - microsatellite instability-high. T- test series; N.a. - not analyzed; TGFBR2, MSH3 and MSH6 mutations and MLH1 methylation were not found.

Pinheiro et al. BMC Cancer 2010 10:587   doi:10.1186/1471-2407-10-587

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