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Sci Rep. 2019 Mar 5;9(1):3586. doi: 10.1038/s41598-019-39956-y.

Shared and unique genomic structural variants of different histological components within testicular germ cell tumours identified with mate pair sequencing.

Author information

1
Division of Hematology and Medical Oncology, Mayo Clinic, Phoenix, Arizona, USA. bryce.alan@mayo.edu.
2
Mayo Clinic Cancer Center, Phoenix, Arizona, USA. bryce.alan@mayo.edu.
3
Center for Individualized Medicine, Mayo Clinic, Rochester, Minnesota, USA. bryce.alan@mayo.edu.
4
Center for Individualized Medicine, Mayo Clinic, Rochester, Minnesota, USA.
5
Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, Minnesota, USA.
6
Division of Medical Oncology, Mayo Clinic, Rochester, Minnesota, USA.
7
Department of Urology, Mayo Clinic, Rochester, Minnesota, USA.
8
Department of Molecular Medicine, Mayo Clinic, Rochester, Minnesota, USA.

Abstract

Post-pubertal testicular germ-cell tumours (TGCTs) can present with a variety of distinct histologies which are nevertheless lineage related and often co-occurring. The exact lineage relationships and developmental pathways leading to the different histologies is debated. In order to investigate the relationship of histologic populations, mate-pair sequencing (MPseq) and exome sequencing (ExomeSeq) were conducted on different histological populations within the same tumour. Ten TGCTs with 1-3 histologic types/tumour were sequenced. Junctions of somatic chromosomal rearrangements were identified on a per genome basis, with germ cell neoplasia in situ possessing the least (median 1, range 0-4) and embryonal carcinoma the most (median 8.5, range 6-12). Copy number variation revealed gains and losses, including isoform 12p (i12p) (10/10 samples), and chromosomes 7, 8, and 21 gains (7/10 samples). Mapping of shared junctions within a tumour revealed lineage relationships, but only i12p was shared between patients. ExomeSeq from two cases demonstrated a high level of copy-neutral loss of heterozygosity. Parallel assessment of separate histologies within a single TGCT demonstrated cumulative and divergent changes, suggesting the importance of parallel sequencing for detection of relevant biomarkers.

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