ecancermedicalscience

Case Report

VUS-type alteration in POLD1 and microsatellite instability in a metastatic luminal B breast cancer patient

21 Jan 2020
Catarina Marchon da Silva, Denis Shimba, Denise Oishi, Allyne Cagnacci, Ana Carolina Ribeiro Chaves de Gouvea, Felipe Ades

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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