Molecular Pathology Laboratory Network

Microsatellite Instability MSH6

Test Code
I MSH6
Associations
Heridatory CRC; Lynch syndrome (hereditary non-polyposis colorectal cancer, HNPCC)
Methodology
Immunohistochemistry
Clone BC/44
CPT Codes
88342 each marker
Turnaround Time
Less than 2 days
Specimen Requirements
  • Surgical samples received in 10% neutral buffered formalin
  • Formalin fixed paraffin embedded tissue
  • Previously prepared pathology materials (slides,smears, blocks or other samples)
Send reports, history and differential diagnosis
Specimen Stability
Indefinitely at room temperature
Storage & Handling
Ship ambient. In extreme hot weather, ship with a cool pack.
Causes for Rejection
Inadequate fixation; Improper labeling
Related Content
MSI profile; KRAS; BRAF;CellSearch CTC
Description
MSH6 is a heterodimer of MSH2 and binds to DNA containing G/T mismatches. The MSH2-MSH6 complex recognizes a single-based mispairs insertion/deletion loop. An alteration of microsatellite repeats is the result of slippage owing to strand misalignment during DNA replication and is referred to as microsatellite instability (MSI). These defects in DNA repair pathways have been related to human carcinogenesis. Studies have shown the mutations in MSH-1, MSH2 and MSH6 genes contribute to the development of sporadic colorectal carcinoma. The repair of mismatch DNA is essential to maintaining the integrity of genetic information over time.
References
  1. Renkonen E et al.(2003). Altered expression of MLH1, MSH2, and MSH6 in predisposition to hereditary nonpolyposis colorectal cancer. J Clin Oncol.21(19):3629-37
  2. PiƱol V. et al. (2005). Accuracy of Revised Bethesda Guidelines,Microsatellite Instability, and Immunohistochemistry for the Identification of Patients With Hereditary Nonpolyposis Colorectal Cancer. JAMA. 293:1986-1994
  3. Gatalica Z, Torlakovic E.(2008). Pathology of the hereditary colorectal carcinoma. Fam Cancer.7(1):15-26.
  4. Boland, C.R., et al.(1998). A National Cancer Institute Workshop on Microsatellite Instability for cancer detection and familial predisposition: development of international criteria for the determination of microsatellite instability in colorectal cancer. Cancer Research.58(22): 5248-5257.

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