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

Overview of attention for article published in BMC Cancer, May 2017
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Title
Characterization of genetic aberrations in a single case of metastatic thymic adenocarcinoma
Published in
BMC Cancer, May 2017
DOI 10.1186/s12885-017-3282-9
Pubmed ID
Authors

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

Abstract

Thymic adenocarcinoma is an extremely rare subtype of thymic epithelial tumors. Due to its rarity, there is currently no sequencing approach for thymic adenocarcinoma. We performed whole exome and transcriptome sequencing on a case of thymic adenocarcinoma and performed subsequent validation using Sanger sequencing. 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. Thymic adenocarcinoma shows highly malignant characteristics with alterations in several cancer-related genes.

Twitter Demographics

The data shown below were collected from the profiles of 2 tweeters who shared this research output. Click here to find out more about how the information was compiled.

Mendeley readers

The data shown below were compiled from readership statistics for 13 Mendeley readers of this research output. Click here to see the associated Mendeley record.

Geographical breakdown

Country Count As %
United States 1 8%
Unknown 12 92%

Demographic breakdown

Readers by professional status Count As %
Student > Bachelor 4 31%
Student > Master 3 23%
Student > Postgraduate 2 15%
Researcher 1 8%
Professor > Associate Professor 1 8%
Other 1 8%
Unknown 1 8%
Readers by discipline Count As %
Medicine and Dentistry 6 46%
Agricultural and Biological Sciences 2 15%
Computer Science 1 8%
Immunology and Microbiology 1 8%
Psychology 1 8%
Other 1 8%
Unknown 1 8%

Attention Score in Context

This research output has an Altmetric Attention Score of 1. This is our high-level measure of the quality and quantity of online attention that it has received. This Attention Score, as well as the ranking and number of research outputs shown below, was calculated when the research output was last mentioned on 17 May 2017.
All research outputs
#12,698,323
of 16,638,522 outputs
Outputs from BMC Cancer
#3,540
of 6,075 outputs
Outputs of similar age
#182,510
of 270,602 outputs
Outputs of similar age from BMC Cancer
#1
of 1 outputs
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