Utilizing a Next Generation Sequencing Platform to Investigate Patterns of Chromosome Arm Loss and Gain in Rare Hypomtuated Tumors.

Abstract

Chromosome aneuploidies are the most pervasive genomic aberration seen in cancer. Despite this, much is still unknown about the cellular mechanisms that cause these genomic events and their prognostic value across cancer types. Rare tumors are often overlooked in large clinical trials due to difficulties accruing patients and limited understanding of the cellular biology of these understudied diseases. Initial work in esthesioneuroblastoma (ENB), a rare tumor which generally lack genomic alterations and originate from nerve cells in the naval cavity, identified three subtypes defined by unique patterns of aneuploidies. This led to the hypothesis that other rare tumors lacking genomic alterations may similarly be defined by aneuploidies, rather than other classes of genomic alterations. This study presents exploratory analysis on several rare cancers with the aim of identifying and describing subtypes which are defined by distinct patterns of aneuploidies.