MSH2
Alias/Synonym: DNA Mismatch Repair Protein, MutS Protein Homolog 2
CPT Code: 88342
- Includes:
- Specimen Type, Preferred:
- Formalin fixed paraffin embedded tissue
- Specimen Type, Alternate:
- Sample Quantity, Preferred:
- 1 block
- 2 slides
- Sample Quantity, Minimum:
- N/A
- Transport Container:
- Paraffin block
- Unstained slides
- Transport Temperature:
- Room temperature
- Collection Instructions:
- Block and slide identifiers should be clearly written and match exactly with the specimen ID and specimen labeling as noted on the requisition.
- Slides should be positively charged and cut at 3-4 microns for each stain/antibody ordered.
- Specimen Stability:
- N/A
- Rejection Criteria:
- No liquid specimens.
- Uncharged slides
- Clinical Significance:
- MSH2 is a 100 kDa nuclear antigen and encodes a protein of 934 amino acids. This protein is one of the DNA mismatch repair enzymes. Loss of a DNA mismatch repair protein can lead to an accumulation of DNA replication errors in the proliferating cells, particularly in areas of short repetitive nucleotide sequences (microsatellite instability). These defects in MMR have been related to human carcinogenesis. Although not very common, mutation of the MSH-2 gene (and concomitant loss of its protein expression detected by IHC) is a strong indicator for possible Lynch syndrome. It also correlates with high microsatellite instability (MSI-H), which has both prognostic and therapeutic implications for colon cancer. When deficient in MSH-2 by IHC, MSH-6 protein is often also lost, as these proteins associate with each other and loss of one often leads to destabilization of the other protein.
- Limitations:
- Turnaround Time:
- 1 day(s)
- Reference Ranges:
- N/A