Whole Genome Sequencing Reveals Independent Clonal Origin of Bilateral Testicular Germ Cell Tumors in Two Patients with Pure Seminoma.

The pathophysiology of bilateral testicular germ cell tumors (TGCT) is poorly understood. It is unclear if they develop independently, arise from common germline genetic changes, or metastasize from one gonad to the other. We determined the underlying genomic alterations in two cases of bilateral TGCTs with pure seminoma using whole genome sequencing. Large chromosomal aberrations and KIT amplification were identified, but there were no shared single nucleotide variants or structural chromosomal rearrangements in paired TGCTs, suggesting they develop independently. The biological behavior of bilateral TGCTs may be distinct and the staging and prognostic evaluation of each tumor should be performed independently.

Urology. 2022 Feb 11 [Epub ahead of print]

Michael J Biles, Michael C Haffner, Brian Hanratty, Phillip M Pierorazio

Department of Urology, The James Buchanan Brady Urological Institute, Johns Hopkins University School of Medicine, Baltimore, MD 21287. Electronic address: ., Divisions of Human Biology and Clinical Research, Fred Hutchinson Cancer Research Center, 1100 Fairview Ave, N., Seattle, WA 98109; Department of Pathology, University of Washington, 1959 NE Pacific St, Seattle, WA 98195; Department of Pathology, Johns Hopkins University School of Medicine, 600 N Wolfe St, Baltimore, MD 21287., Divisions of Human Biology and Clinical Research, Fred Hutchinson Cancer Research Center, 1100 Fairview Ave, N., Seattle, WA 98109., Department of Urology, The James Buchanan Brady Urological Institute, Johns Hopkins University School of Medicine, Baltimore, MD 21287.