Analysis of NOTCH1 mutations as predictive biomarker for transformation in patients with follicular lymphoma: a 10-year observational retrospective cohort study
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BACKGROUND
Follicular lymphoma is the most common indolent NHL in the western world. As it is an
indolent lymphoma, the typical clinical practice is to only offer treatment when patients
develop symptoms or when a high tumour burden is present.
The prognosis of FL is partially determined by the risk of histological transformation to an
agressive lymphoma (30% transformation rate at 15-y of follow-up). Recent studies have
suggested that early treatment with rituximab could reduce the risk of transformation.
The question that arises is which patients present a higher risk of transformation and
consequently, which patients will benefit from early treatment of their lymphoma. At this time
there are no predictive biomarkers to identify this subset of patients. Some studies have
identified mutations in the NOTCH1 gene as a risk factor for transformation of other indolent
lymphomas and therefore we presume it could be a predictive biomarker of transformation of
FL at diagnosis.
OBJECTIVE
To analize the relationship between the mutational status of the NOTCH1 gene and the risk
of transformation in patients with non-transformed follicular lymphoma at the time of
diagnosis.
METHODS
The study is designed as a 10-year observational retrospective cohort of patients from ICO
Girona-Hospital Dr. Josep Trueta in which 224 cryopreserved samples of non-transformed
FL will be analyzed for the presence of NOTCH1 mutations. Posteriorly, we will assess what
percentage of mutated and wild-type NOTCH1 cases suffered transformation