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Theses

Subclonal evolution in neuroblastoma

Abstract : Neuroblastoma is the most frequent solid extra-cranial cancer of childhood. This cancer displays a high heterogeneity both at clinical and molecular levels. Even though in some patients spontaneous remission can be observed, some others relapse despite treatment and surgical resection. It may be wondered which are the factors that distinguish these two cases. In order to answer this question, identification of populations coexisting at diagnosis and/or relapse in the patients which have relapsed is a prerequisite. This would allow, between other things, to study the pathways differently altered in clones that are specific to each time point. With this in mind, we hereby present QuantumClone, a clonal reconstruction algorithm from sequencing data. In addition, we applied this method to a cohort of patients suffering from neuroblastoma. On these data, our method identified differences in the functional mutation rate, i.e. the number of putative functional variants by total number of variants, between the ancestral clones, clones expanding at relapse, and clones shrinking at relapse.
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Submitted on : Wednesday, August 23, 2017 - 5:01:08 PM
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  • HAL Id : tel-01576703, version 1

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Paul Deveau. Subclonal evolution in neuroblastoma. Cancer. Université Paris Saclay (COmUE), 2017. English. ⟨NNT : 2017SACLS140⟩. ⟨tel-01576703⟩

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