The Chromosomal Catastrophes Behind Esophageal Cancer

A study using whole genome sequencing has shown that esophageal cancer patients have highly mutated and rearranged genomes.

AsianScientist (Nov. 6, 2014) – Researchers have determined that sudden “chromosomal catastrophes” may trigger a third of esophageal tumors, the fastest rising cancer in Australia. Their results have been published in Nature Communications.

The study, involving scientists from QIMR Berghofer Medical Research Institute, the University of Queensland (UQ) School of Medicine and UQ’s Institute for Molecular Bioscience (IMB), opens the way for further research into what triggers the catastrophic events and whether patients at risk could take measures that may prevent tumors from developing.

IMB’s Dr. Nic Waddell, who co-led the study, said the research was based on genome-wide sequencing of 22 patients with esophageal adenocarcinoma (EAC) from three Brisbane hospitals.

“In 32 percent of patients there had been a catastrophic event that damaged the DNA which resulted in highly mutated and rearranged genomes and we confirmed this finding in another 101 patients,” Dr. Waddell said. “In all patients there was evidence of genetic scarring or ‘footprints’ of damage to the DNA in the tumor cells.”

“These findings have given us an important clue as to how these tumors might have eventuated,” she added.

UQ School of Medicine’s Dr. Andrew Barbour said EAC had one of the poorest outlooks of all solid tumors, with only 14 percent of patients surviving five years.

“Removing the tumor is their best hope, but fewer than 50 percent of patients are diagnosed early enough for surgery,” Dr. Barbour said.

He said the most significant risk factor for EAC was the pre-malignant lesion known as Barrett’s esophagus.

“Patients with Barrett’s are routinely monitored for development of malignant tumors but reflux, smoking and obesity are other risk factors and men account for eight in every nine EAC cases,” Dr. Barbour said.

“The number of patients diagnosed with esophageal cancer has doubled in the past 20 years and is expected to double again in the next two decades,” he added.

The article can be found at: Nones et al. (2014) Genomic Catastrophes Frequently Arise in Esophageal Adenocarcinoma and Drive Tumorigenesis.

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Source: QIMR Berghofer Medical Research Institute; Photo: Ryan Johnson/Flickr/CC.
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