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This document describes the polymerase chain reaction (PCR) assay for detecting microsatellite instability (MSI) in patients at risk for Lynch syndrome, detailing clinical indications, laboratory
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How to fill out Microsatellite Instability Testing in Colon and Endometrial Cancer

01
Gather all necessary medical records and patient information.
02
Discuss the need for testing with the healthcare provider.
03
Select the appropriate tissue sample (tumor biopsy preferred).
04
Ensure the sample is properly preserved and labeled.
05
Send the tissue sample to a certified laboratory specializing in MSI testing.
06
Follow up for results, which may take a few weeks.
07
Review the test results with the healthcare provider to determine further treatment options.

Who needs Microsatellite Instability Testing in Colon and Endometrial Cancer?

01
Patients with a personal or family history of colorectal or endometrial cancer.
02
Individuals diagnosed with colorectal cancer at age 50 or younger.
03
Patients with suspected Lynch syndrome based on clinical criteria.
04
Patients with tumors exhibiting certain characteristics such as poor differentiation or advanced stage.
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Immunohistochemistry staining is an important adjunct in distinguishing the diagnosis of endometrial adenocarcinoma from primary colorectal carcinomas. Primary colon cancers are cytokeratin-7 negative and cytokeratin-20 positive, whereas endometrial cancers are cytokeratin-7 positive and cytokeratin-20 negative.
One of the molecular alterations associated with endometrioid type (Type I endometrial cancer) is microsatellite instability (MSI), which indicates defects in the DNA mismatch repair system (MMR). Microsatellites are short repetitive nucleotide sequences in the human genome [9, 10].
Précis: Historically, microsatellite instability testing has been used to identify endometrial cancer patients with Lynch Syndrome. Now, it is also being used to identify those who may be immunotherapy candidates.
Microsatellite instability (MSI) is the condition of genetic hypermutability (predisposition to mutation) that results from impaired DNA mismatch repair (MMR). The presence of MSI represents phenotypic evidence that MMR is not functioning normally.
Researchers developed a panel of 28 methylated DNA markers that could distinguish between endometrial cancer and noncancerous tissue with 96% specificity (proportion of samples correctly identified as positive) and 76% sensitivity (proportion of samples correctly identified as negative) in vaginal fluid.
MSI testing is performed on samples from a patient's tumor. It's generally based on five microsatellite markers. This type of testing may determine whether a tumor has high MSI, low MSI or is stable. High (MSI-H): Tumors have a high MSI if at least two of the five markers show instability.
MSI value as a prognostic factor in sporadic endometrial carcinomas is also not clear. At least one study has found a link between MSI-high status and a higher survival rate [24], in other, though, MSI-high was related with a poor prognosis but only in FIGO I stage of endometrial carcinomas [31].

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Microsatellite Instability Testing (MSI testing) is a molecular test used to identify changes in microsatellite sequences of DNA, which can indicate problems with DNA repair mechanisms in cells, particularly in colon and endometrial cancers. It helps determine the presence of certain genetic markers associated with Lynch syndrome and can impact treatment decisions.
Microsatellite Instability Testing is typically required for patients diagnosed with colorectal or endometrial cancers, especially if they have a family history of Lynch syndrome or exhibit other clinical features suggestive of hereditary cancer syndromes.
To fill out the MSI testing requisition, healthcare providers need to provide patient identification, clinical history, specimen type, and any relevant family history associated with Lynch syndrome. Additionally, information about prior treatments and previous cancer diagnoses may also be required.
The purpose of MSI testing is to assess the stability of microsatellite regions in tumor DNA, which helps identify patients at risk for Lynch syndrome and informs treatment options. It can also guide the use of immunotherapy in certain patients.
The report for MSI testing typically includes the MSI status (i.e., stable, low-level instability, or high-level instability), test methodology, interpretation, and any genetic counseling recommendations based on the findings.
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