Creator/Principal investigator(s)
Christofer Juhlin
- Karolinska Institutet, Department of Oncology-Pathology
Johan Paulsson - Karolinska Institutet, Department of Oncology-Pathology
Description
Background
The genomic and transcriptomic landscape of widely invasive follicular thyroid carcinomas (wiFTCs) is poorly characterized, and a large subset of these tumours lack information on credible genetic driver events. The aim of this study was to bridge this gap.
Methods
We performed whole-genome and RNA sequencing and subsequent bioinformatic analyses of 13 wiFTCs with a particularly poor prognosis, and matched normal tissue.
Results
Ten out of thirteen (77%) tumours exhibited one or several mutations in established genes ranked as the top 20 mutated in thyroid cancer, including TERT (n=4), NRAS (n=3), HRAS, KRAS, AKT, PTEN, PIK3CA, MUTYH and MEN1 (n=1 each). Recurrent somatic mutations in three genes were annotated as significant according to MutSig2CV: FAM72D (n=3), TP53 (n=3) and EIF1AX (n=3), with DGCR8 (n=2) as borderline significant. Of interest, both DGCR8 mutations were recurrent p.E518K missense alterations, a mutation known to cause familial multinodular goiter (MNG) via disruption of microRNA (miRNA) processing. Expression analyses pinpointed a trend towards reduced DGCR8 mRN
Language
English
Research principal
Responsible department/unit
Department of Oncology-Pathology
Contributor(s)
Yi Chen - Karolinska Institutet, Department of Oncology-Pathology
Sebastian DiLorenzo - Uppsala University, Department of Medical Biochemistry and Microbiology / Department of Cell and Molecular Biology
Nima Rafati - Uppsala University, Department of Medical Biochemistry and Microbiology / Department of Cell and Molecular Biology
Jan Zedenius
- Karolinska Institutet, Department of Molecular Medicine and Surgery
Felix Haglund - Karolinska Institutet, Department of Oncology-Pathology
Data contains personal data
Yes
Sensitive personal data
Yes
Code key exists
Yes
Ethics Review
Stockholm - Ref. Dnr 2015/959-31
Population
The study included 13 patients with follicular thyroid carcinoma. All diagnosed at the Karolinska University Hospital, Stockholm.
Study design
Experimental study
Description of study design
Whole-genome and RNA sequencing of 13 tumor and normal tissue pairs.
Biobank is connected to the study
This study has used existing samples from a scientific collection or biobank
Scientific collection or biobank name: KI Biobank
Type(s) of sample: tumor tissue
Geographic spread
Geographic location: Sweden
Associated documentation
Description
The dataset consists of tables and lists containing underlying data, and supplementary figures for a manuscript submitted to "Journal of Clinical Endocrinology & Metabolism". It includes 8 tables and 3 figures:
File name: T1_Detailed-characteristics-of-the-study-cohort.csv
Contains "Table 1: Detailed characteristics of the study cohort."
File name: T2_List-of-Somatic-SNVs.csv
Contains "Table 2: List of Somatic SNV's (Small nucleotide variants)."
File name: T3_MutSig2CV-input-genes.csv
Cont
Version 1
https://doi.org/10.5878/6fcv-1795
Citation
Download citation
Data format / data structure
Text
Still image
Creator/Principal investigator(s)
Christofer Juhlin
- Karolinska Institutet, Department of Oncology-Pathology
Johan Paulsson - Karolinska Institutet, Department of Oncology-Pathology
Number of individuals/objects
13