AI Article Synopsis
- Microsatellite instability (MSI) and POLD1 mutations are more common in colorectal tumours related to polyposis syndrome, but rarely occur in breast tumours.
- A case of a young patient with a metastatic luminal B breast tumour and a strong family history of cancer revealed a Variant of Uncertain Significance (VUS) in POLD1, leading to further investigation of MSI which tested positive.
- Current research suggests that pembrolizumab, an immunotherapy drug, may be a more effective treatment for tumours showing MSI compared to traditional chemotherapy.
Article Abstract
Microsatellite instability (MSI) and POLD1 mutations are usually described in colorectal tumours in patients with polyposis syndrome but rarely found in breast tumours. This case describes a metastatic luminal B breast tumour in a young patient with an important family history of cancer. Mutational studies found a Variant of Uncertain Significance (VUS)-type alteration in POLD1 that motivated the study for MSI, which was found positive. Recent data point towards the use of pembrolizumab as a treatment option for tumour presenting with MSI instead of chemotherapy.
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Source |
|---|---|
| http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7039690 | PMC |
| http://dx.doi.org/10.3332/ecancer.2020.1002 | DOI Listing |
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