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Table 2 Case analysis of seven patients with discordant results between IHC and PCR

From: A next-generation sequencing-based strategy combining microsatellite instability and tumor mutation burden for comprehensive molecular diagnosis of advanced colorectal cancer

Patient ID

Stage

Pathology

Tumor site

IHC interpretation

Absent protein of IHC

MSI-PCR

MSI-NGS

TMB (muts/Mb)

MMR relative alterations

Review or Retest of IHC

14,167

IV

Adenocarcinoma

Ascending colon

pMMR

None

MSI-H

MSS

7.1

 

Not enough tissue

31,713

IV

Adenocarcinoma

Rectum

dMMR

MLH1 and PMS2

MSS

MSS

20.2

MLH1 R265C and BRAF V600E

Not enough tissue

12,563

IV

Signet ring cell

Rectum

dMMR

PMS2

MSS

MSS

1.1

 

Retest as pMMR

11,640

IV

Adenocarcinoma

Ileocecal junction

dMMR

PMS2

MSS

MSS

7.1

 

Review as Misinterpretation

12,873

II

Adenocarcinoma

Ascending colon

dMMR

PMS2

MSS

MSS

280.9

PMS2 p.R563* and POLE p.P286R

Not enough tissue

12,880

II

Adenocarcinoma

Rectum

dMMR

MSH6

MSS

MSS

3.2

 

Retest as pMMR

15,706

IV

Adenocarcinoma

Descending colon

dMMR

MSH6

MSS

MSS

8.1

 

Retest as pMMR