Testing tumors from different anatomic sites for clonal relatedness using somatic mutation data.

Biometrics
Irina OstrovnayaColin B Begg

Abstract

A common task for the cancer pathologist is to determine, in a patient suffering from cancer, whether a new tumor in a distinct anatomic site from the primary is an independent occurrence of cancer or a metastasis. As mutational profiling of tumors becomes more widespread in routine clinical practice, this diagnostic task can be greatly enhanced by comparing mutational profiles of the tumors to determine if they are sufficiently similar to conclude that the tumors are clonally related, that is, one is a metastasis of the other. We present here a likelihood ratio test for clonal relatedness in this setting and provide evidence of its validity. The test is unusual in that there are two possible alternative hypotheses, representing the two anatomic sites from which the single clonal cell could have initially emerged. Although evidence for clonal relatedness is largely provided by the presence of exact mutational matches in the two tumors, we show that it is possible to observe data where the test is statistically significant even when no matches are observed. This can occur when the mutational profile of one of the tumors is closely aligned with the anatomic site of the other tumor, suggesting indirectly that the tumor originated ...Continue Reading

References

Aug 11, 2007·Biometrics·Colin B BeggAmanda J Hummer
Dec 27, 2007·Journal of the National Cancer Institute·Marc A BolletJean-Paul Thiery
Apr 9, 2009·Journal of the National Cancer Institute·Xiaoyan WangLiang Cheng
Aug 13, 2009·Clinical Cancer Research : an Official Journal of the American Association for Cancer Research·Nicolas GirardColin B Begg
Nov 26, 2015·The Annals of Applied Statistics·Irina OstrovnayaColin B Begg
Aug 3, 2017·Cancer Discovery·Kevin LitchfieldCharles Swanton
Sep 19, 2017·International Journal of Cancer. Journal International Du Cancer·Colin B BeggJorge S Reis-Filho
Dec 5, 2019·Nature Communications·Saptarshi ChakrabortyRonglai Shen

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Citations

Mar 27, 2021·Journal of Molecular Medicine : Official Organ of the Gesellschaft Deutscher Naturforscher Und Ärzte·Cindy Hsuan WengChyong-Huey Lai

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