Diagnostic implications of intrapatient genetic tumor heterogeneity

Ana P Berbegall; Samuel Navarro; Rosa Noguera

doi:10.1080/23723556.2015.1079671

Diagnostic implications of intrapatient genetic tumor heterogeneity

Mol Cell Oncol. 2015 Sep 11;3(2):e1079671. doi: 10.1080/23723556.2015.1079671. eCollection 2016 Mar.

Authors

Ana P Berbegall¹, Samuel Navarro¹, Rosa Noguera¹

Affiliation

¹ Pathology Department, Medical School, University of Valencia, INCLIVA Institute , Valencia, Spain.

Abstract

The complex genetic composition of neuroblastoma emphasizes the importance of conscientious and meticulous diagnosis. Clones with amplification or segmental chromosomal aberrations sometimes remain hidden. Several determinations should be performed when sufficient tumor material is available to establish the final diagnosis by combining the results of different techniques on tumor fragments or liquid biopsies.

Keywords: Heterogeneous MYCN amplification; heterogeneous segmental chromosome aberration; intratumoral genetic heterogeneity; neuroblastoma; spatial intrapatient genetic heterogeneity; temporal genetic heterogeneity.