全基因组测序揭示 2 例单纯精原细胞瘤患者双侧睾丸生殖细胞肿瘤的独立克隆起源。
Whole Genome Sequencing Reveals Independent Clonal Origin of Bilateral Testicular Germ Cell Tumors in 2 Patients with Pure Seminoma.
机构信息
Department of Urology, The James Buchanan Brady Urological Institute, Johns Hopkins University School of Medicine, Baltimore, MD.
Divisions of Human Biology and Clinical Research, Fred Hutchinson Cancer Research Center, Seattle, WA; Department of Pathology, University of Washington, Seattle, WA; Department of Pathology, Johns Hopkins University School of Medicine, Baltimore, MD.
出版信息
Urology. 2022 Jul;165:184-186. doi: 10.1016/j.urology.2022.01.025. Epub 2022 Feb 11.
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.
双侧睾丸生殖细胞肿瘤（TGCT）的病理生理学机制尚不清楚。目前尚不清楚它们是独立发展的，还是源自共同的种系基因突变，或者是从一个性腺转移到另一个性腺。我们使用全基因组测序方法，对两例单纯精原细胞瘤的双侧 TGCT 进行了检测，以确定其潜在的基因组改变。结果发现了大的染色体异常和 KIT 扩增，但在配对的 TGCT 中没有共享的单核苷酸变异或结构染色体重排，这表明它们是独立发展的。双侧 TGCT 的生物学行为可能不同，每个肿瘤的分期和预后评估都应独立进行。
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