PMID- 28506304
OWN - NLM
STAT- MEDLINE
DCOM- 20180226
LR  - 20221207
IS  - 1471-2407 (Electronic)
IS  - 1471-2407 (Linking)
VI  - 17
IP  - 1
DP  - 2017 May 15
TI  - Characterization of genetic aberrations in a single case of metastatic thymic 
      adenocarcinoma.
PG  - 330
LID - 10.1186/s12885-017-3282-9 [doi]
LID - 330
AB  - 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.
FAU - Lee, Yeonghun
AU  - Lee Y
AD  - School of Electrical Engineering and Computer Science, Gwangju Institute of 
      Science and Technology, 123 Cheomdangwagi-ro, Buk-gu, Gwangju, 61005, South 
      Korea.
FAU - Park, Sehhoon
AU  - Park S
AD  - Division of Hematology and Medical Oncology, Department of Internal Medicine, 
      Seoul National University Hospital, 101 Daehakro, Jongnogu, Seoul, 110-744, South 
      Korea.
FAU - Lee, Se-Hoon
AU  - Lee SH
AD  - Division of Hematology and Medical Oncology, Department of Internal Medicine, 
      Seoul National University Hospital, 101 Daehakro, Jongnogu, Seoul, 110-744, South 
      Korea. sehoon.lee119@gmail.com.
AD  - Division of Hematology/Oncology, Department of Medicine, Samsung Medical Center, 
      Sungkyunkwan University School of Medicine, 81 Irwon-Ro Gangnam-gu, Seoul, 06351, 
      South Korea. sehoon.lee119@gmail.com.
FAU - Lee, Hyunju
AU  - Lee H
AD  - School of Electrical Engineering and Computer Science, Gwangju Institute of 
      Science and Technology, 123 Cheomdangwagi-ro, Buk-gu, Gwangju, 61005, South 
      Korea. hyunjulee@gist.ac.kr.
LA  - eng
PT  - Case Reports
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
DEP - 20170515
PL  - England
TA  - BMC Cancer
JT  - BMC cancer
JID - 100967800
RN  - Thymic epithelial tumor
SB  - IM
MH  - Adenocarcinoma/diagnostic imaging/*genetics/pathology
MH  - Adult
MH  - Bone Neoplasms/secondary
MH  - DNA Copy Number Variations/*genetics
MH  - Humans
MH  - Male
MH  - Mutation/*genetics
MH  - Neoplasms, Glandular and Epithelial/diagnostic imaging/*genetics/pathology
MH  - Thymoma/diagnostic imaging/*genetics/pathology
MH  - Thymus Neoplasms/diagnostic imaging/*genetics/pathology
MH  - Exome Sequencing
PMC - PMC5432996
OTO - NOTNLM
OT  - Somatic copy number alterations
OT  - Somatic mutations
OT  - Thymic adenocarcinoma
OT  - Thymic epithelial tumors
OT  - Whole exome sequencing
EDAT- 2017/05/17 06:00
MHDA- 2018/02/27 06:00
PMCR- 2017/05/15
CRDT- 2017/05/17 06:00
PHST- 2016/09/07 00:00 [received]
PHST- 2017/04/13 00:00 [accepted]
PHST- 2017/05/17 06:00 [entrez]
PHST- 2017/05/17 06:00 [pubmed]
PHST- 2018/02/27 06:00 [medline]
PHST- 2017/05/15 00:00 [pmc-release]
AID - 10.1186/s12885-017-3282-9 [pii]
AID - 3282 [pii]
AID - 10.1186/s12885-017-3282-9 [doi]
PST - epublish
SO  - BMC Cancer. 2017 May 15;17(1):330. doi: 10.1186/s12885-017-3282-9.