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BMC Cancer
Published in: BMC Cancer 1/2017

Open Access 01-12-2017 | Research article

Characterization of genetic aberrations in a single case of metastatic thymic adenocarcinoma

Authors: Yeonghun Lee, Sehhoon Park, Se-Hoon Lee, Hyunju Lee

Published in: BMC Cancer | Issue 1/2017

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Abstract

Background

Thymic adenocarcinoma is an extremely rare subtype of thymic epithelial tumors. Due to its rarity, there is currently no sequencing approach for thymic adenocarcinoma.

Methods

We performed whole exome and transcriptome sequencing on a case of thymic adenocarcinoma and performed subsequent validation using Sanger sequencing.

Results

The case of thymic adenocarcinoma showed aggressive behaviors with systemic bone metastases. We identified a high incidence of genetic aberrations, which included somatic mutations in RNASEL, PEG10, TNFSF15, TP53, TGFB2, and FAT1. Copy number analysis revealed a complex chromosomal rearrangement of chromosome 8, which resulted in gene fusion between MCM4 and SNTB1 and dramatic amplification of MYC and NDRG1. Focal deletion was detected at human leukocyte antigen (HLA) class II alleles, which was previously observed in thymic epithelial tumors. We further investigated fusion transcripts using RNA-seq data and found an intergenic splicing event between the CTBS and GNG5 transcript. Finally, enrichment analysis using all the variants represented the immune system dysfunction in thymic adenocarcinoma.

Conclusion

Thymic adenocarcinoma shows highly malignant characteristics with alterations in several cancer-related genes.
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Metadata
Title
Characterization of genetic aberrations in a single case of metastatic thymic adenocarcinoma
Authors
Yeonghun Lee
Sehhoon Park
Se-Hoon Lee
Hyunju Lee
Publication date
01-12-2017
Publisher
BioMed Central
Published in
BMC Cancer / Issue 1/2017
Electronic ISSN: 1471-2407
DOI
https://doi.org/10.1186/s12885-017-3282-9

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