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Targeted next-generation sequencing of cancer genes in poorly differentiated thyroid cancer
Tiemo S Gerber1, Arno Schad2, Nils Hartmann2
1Endocrine Surgery SectionDepartment of General, Visceral and Transplantation Surgery, University Medicine, Mainz, Germany tiemogerber@gmail.com.
Abstract:
Poorly differentiated thyroid carcinoma (PDTC) is a rare malignancy with higher mortality than well-differentiated thyroid carcinoma. The histological diagnosis can be difficult as well as the therapy. Improved diagnosis and new targeted therapies require knowledge of DNA sequence changes in cancer-relevant genes. The TruSeq Amplicon Cancer Panel was used to screen cancer genomes from 25 PDTC patients for somatic single-nucleotide variants in 48 genes known to represent mutational hotspots. A total of 4490 variants were found in 23 tissue samples of PDTC. Ninety-eight percent (4392) of these variants did not meet the inclusion criteria, while 98 potentially pathogenic or pathogenic variants remained after filtering. These variants were distributed over 33 genes and were all present in a heterozygous state. Five tissue samples harboured not a single variant. Predominantly, variants in P53 (43% of tissue samples) were identified, while less frequently, variants in APC, ERBB4, FLT3, KIT, SMAD4 and BRAF (each in 17% of tissue samples) as well as ATM, EGFR and FBXW7 (each in 13% of tissue samples) were observed. This study identified new potential genetic targets for further research in PDTC. Of particular interest are four observed ERBB4 (alias HER4) variants, which have not been connected to this type of thyroid carcinoma so far. In addition, APC and SMAD4 mutations have not been reported in this subtype of cancer either. In contrast to other reports, we did not find CTNNB1 variants.
Insights
This study screened poorly differentiated thyroid carcinoma (PDTC) genomes for DNA variants. Researchers identified 98 potentially pathogenic variants in 33 genes, with P53 mutations being most common, offering new therapeutic targets.
Area of Science:
- Oncology
- Genetics
- Molecular Biology
Background:
- Poorly differentiated thyroid carcinoma (PDTC) is a rare, aggressive cancer with high mortality.
- Accurate diagnosis and effective therapies for PDTC are challenging.
- Understanding genetic alterations is crucial for developing targeted treatments.
Purpose of the Study:
- To identify somatic single-nucleotide variants in cancer-relevant genes in PDTC patients.
- To discover novel genetic targets for improved PDTC diagnosis and therapy.
Main Methods:
- Utilized the TruSeq Amplicon Cancer Panel to analyze DNA from 25 PDTC patient tissue samples.
- Screened for variants in 48 known cancer-relevant genes.
- Applied stringent filtering criteria to identify potentially pathogenic variants.
Main Results:
- Identified 98 potentially pathogenic or pathogenic variants across 33 genes in 23 PDTC samples.
- P53 variants were most frequent (43%), followed by variants in APC, ERBB4, FLT3, KIT, SMAD4, BRAF, ATM, EGFR, and FBXW7.
- Discovered novel variants in ERBB4, APC, and SMAD4 not previously linked to PDTC.
Conclusions:
- This research provides a comprehensive profile of genetic mutations in PDTC.
- Identified P53, ERBB4, APC, and SMAD4 as key genes for further investigation in PDTC.
- Findings pave the way for developing new targeted therapies for this challenging cancer.
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