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

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 coul

SUBMITTER: Ostrovnaya I 

PROVIDER: S-EPMC8514156 | biostudies-literature | 2021 Mar

REPOSITORIES: biostudies-literature