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Case Rep Gastroenterol. 2018 Nov 28;12(3):729-736. doi: 10.1159/000494751. eCollection 2018 Sep-Dec.

Whole Genome Sequencing Analysis of a Stage IV Colon Cancer Patient with a 10-Year Disease-Free Survival following Systemic Chemotherapy/Bevacizumab.

Author information

1
Gibbs Cancer Center & Research Institute, Spartanburg, South Carolina, USA.
2
Department of Anatomic Pathology, Moffitt Cancer Center & Research Institute, Tampa, Florida, USA.

Abstract

It is rare that stage IV colon cancer is cured with chemotherapy. Here we report the long-term survival of a patient who presented with highly advanced disease characterized by a papillary architecture as well as porta hepatis lymph nodes but responded extremely well to FOLFIRI/bevacizumab. His original tumor underwent comprehensive genomic testing that included whole genome DNA sequencing, targeted sequencing, and RNA sequencing. These genetic results suggest the patient's tumor harbored mutations in APC, KRAS, and TP53 as well as in PIK3CB. Moreover, the RNA-seq data suggested that the tumor belonged to the consensus molecular subtype 4, the "inflamed, immune phenotype," with increased angiogenesis. Deep sequencing of highly responsive cancers may yield molecular insights into mechanisms underpinning a remarkable response.

KEYWORDS:

Bevacizumab; Chemotherapy; Colon cancer; Driver genes; Genomic testing

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