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Blood test detects dozens of cancers

Tuesday March 31st, 2020

A blood test can accurately detect more than 50 types of cancer and identify in which tissue the cancer originated – often before symptoms show, it was announced today (31 March 2020).

The test was found to have a 0.7% false positive rate for cancer detection and was able to predict the tissue in which the cancer originated in 96% of samples, with accuracy of 93%.

Writing in the Annals of Oncology, the research team, led by US Oncology, in Texas, USA, analysed methylation, which usually control gene expression because abnormal methylation patterns and the resulting changes in gene expression can contribute to tumour growth.

The blood test targeted approximately one million of the 30 million methylation sites in the human genome and an algorithm was used to predict the presence of cancer and the type of cancer based on the patterns of methylation in the cfDNA shed by tumours.

Dr Michael Seiden, senior author, said: “Our earlier research showed that the methylation approach outperformed both whole genome and targeted sequencing in the detection of multiple deadly cancer types across all clinical stages, and in identifying the tissue of origin. It also allowed us to identify the most informative regions of the genome, which are now targeted by the refined methylation test that is reported in this paper.”

Blood samples were analysed from 6,689 North American participants, of whom 2482 patients had previously untreated cancer and 4207 had no cancer (4207 patients).

They were divided into a training set and a validation set and of these, 4316 participants were available for analysis, of whom 3052 in the training set (1531 with cancer, 1521 without cancer) and 1264 in the validation set (654 with cancer and 610 without cancer).

The blood samples were analysed to identify methylation changes and to classify the samples as cancer or non-cancer, and to identify the tissue of origin.

The research team say performance was consistent in both the training and validation sets, with a false positive rate of 0.7% in the validation set.

There was also consistency in correctly identifying when cancer was present between the two sets. In 12 types of cancer – anal, bladder, bowel, oesophageal, stomach, head and neck, liver and bile duct, lung, ovarian and pancreatic cancers, lymphoma, and cancers of white blood cells – the true positive rate was 67.3% across clinical stages I, II and III.

The true positive rate was 43.9% for all cancer types in the study across the three clinical stages.

Detection also improved with each cancer stage. In the 12 pre-specified cancers, the true positive rate was 39% in stage I, 69% in stage II, 83% in stage III and 92% in stage IV. In more than 50 cancer types, the corresponding rates were 18%, 43%, 81% and 93%, respectively.

The test was also consistent between the training and validation sets in its ability to identify the tissue where cancer had originated, with an accuracy of 93% in the validation set.

Dr Seiden said: “These data support the ability of this targeted methylation test to meet what we believe are the fundamental requirements for a multi-cancer early detection blood test that could be used for population-level screening: the ability to detect multiple deadly cancer types with a single test that has a very low false positive rate, and the ability to identify where in the body the cancer is located with high accuracy to help healthcare providers to direct next steps for diagnosis and care.”

Liu MC, Oxnard GR, Klein EA et al. Sensitive and specific multi-cancer detection and localization using methylation signatures in cell-free DNA. Annals of Oncology 31 March 2020

https://www.annalsofoncology.org/article/S0923-7534(20)36058-0/fulltext

Tags: Cancer | North America

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