TY - JOUR
T1 - Whole Genome Sequencing Reveals Independent Clonal Origin of Bilateral Testicular Germ Cell Tumors in 2 Patients with Pure Seminoma
AU - Biles, Michael J.
AU - Haffner, Michael
AU - Hanratty, Brian
AU - Pierorazio, Phillip M.
N1 - Funding Information:
The authors would like to thank Dr. Srinivasan Yegansubramanian, Jennifer Meyers and Anuj Gupta from the Sidney Kimmel Comprehensive Cancer Center at Johns Hopkins Next generation Sequencing Core facility for their help with whole genome sequencing analyses and Brian Hanratty for data analysis support. This work was supported by Bhatia Family Research Fund.
Funding Information:
The authors would like to thank Dr. Srinivasan Yegansubramanian, Jennifer Meyers and Anuj Gupta from the Sidney Kimmel Comprehensive Cancer Center at Johns Hopkins Next generation Sequencing Core facility for their help with whole genome sequencing analyses and Brian Hanratty for data analysis support. This work was supported by Bhatia Family Research Fund.
Publisher Copyright:
© 2022 Elsevier Inc.
PY - 2022/7
Y1 - 2022/7
N2 - 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.
AB - 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.
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U2 - 10.1016/j.urology.2022.01.025
DO - 10.1016/j.urology.2022.01.025
M3 - Article
C2 - 35157907
AN - SCOPUS:85126908359
SN - 0090-4295
VL - 165
SP - 184
EP - 186
JO - Urology
JF - Urology
ER -