Striking similarities in genetic aberrations between a rectal tumor and its lung recurrence

Abstract

We are reporting on a colorectal cancer patient with the longest disease-free interval ever published, where chromosomal microarray analysis was used to confirm the link between the primary and metastatic lesions. This rare case reports on a patient with late recurrence of colorectal cancer in the lung 19 years after its initial diagnosis. We used high-resolution array CGH (aCGH) to analyze the genetic aberrations of both the primary rectal and the recurrent metastatic lung lesions. Interestingly, we found striking similarities between the two lesions, despite the 19 years disease-free interval. In addition, most of the genes that were previously reported to be associated with a high recurrence score showed copy number gains by aCGH in one or both lesions. Our findings suggest that aCGH may be a helpful tool in analyzing the origin of metastases and underline the need for a better understanding of the characteristics of rectal tumors that have a late recurrence potential.

Keywords: Colorectal cancer; Genetic aberrations; Delayed; Recurrence; High-resolution array CGH.

Core tip: The role of genetic profiling in determining the risk of recurrence in colorectal cancer has been under serious investigation. This case report not only represents the longest rectal cancer disease-free interval in the literature, but also applies genetic analysis as a tool to confirm the similarity of the original and metastatic tumor and to predict the risk of recurrence.