scholarly journals Copy Number Alterations in Papillary Thyroid Carcinomas: Does Loss of SESN2 Have a Role in Age-related Different Prognoses?

2020 ◽  
Vol 17 (5) ◽  
pp. 643-648
Author(s):  
DEISE CIBELE N. DE ALMEIDA ◽  
MICHEL PLATINI CALDAS DE SOUZA ◽  
CAROLINA KOURY NASSAR AMORIM ◽  
JERSEY HEITOR DA SILVA MAUÉS ◽  
FERNANDA DO E. SANTO SAGICA ◽  
...  
Keyword(s):  
Copy Number ◽  
Papillary Thyroid ◽  
Copy Number Alterations ◽  
Thyroid Carcinomas ◽  
Age Related

Large contribution of copy number alterations in early stage of Papillary Thyroid Carcinoma

2021 ◽  
pp. 104584
Author(s):  
Nazanin Hosseinkhan ◽  
Maryam Honardoost ◽  
Kevin Blighe ◽  
C.B.T. Moore ◽  
Mohammad E. Khamseh
Keyword(s):  
Papillary Thyroid Carcinoma ◽  
Thyroid Carcinoma ◽  
Copy Number ◽  
Early Stage ◽  
Large Contribution ◽  
Papillary Thyroid ◽  
Copy Number Alterations

scholarly journals Metastasis-associated MCL1 and P16 copy number alterations dictate resistance to vemurafenib in a BRAFV600E patient-derived papillary thyroid carcinoma preclinical model

Oncotarget ◽  
2015 ◽  
Vol 6 (40) ◽  
pp. 42445-42467 ◽  
Author(s):  
Mark Duquette ◽  
Peter M. Sadow ◽  
Amjad Husain ◽  
Jennifer N. Sims ◽  
Zeus A. Antonello ◽  
...  
Keyword(s):  
Papillary Thyroid Carcinoma ◽  
Thyroid Carcinoma ◽  
Copy Number ◽  
Preclinical Model ◽  
Papillary Thyroid ◽  
Copy Number Alterations

scholarly journals OR21-02 Impact of Nodule Size on the Probability of Hurthle Cell Carcinoma and Other Cancers in Thyroid Nodules with Multiple Chromosomal Copy Number Alterations

2020 ◽  
Vol 4 (Supplement_1) ◽  
Author(s):  
Marina N Nikiforova ◽  
Alyaksandr Nikitski ◽  
Jessica Tebbets ◽  
Lindsey Tolino ◽  
Pooja Manroa ◽  
...  
Keyword(s):  
Copy Number ◽  
Thyroid Nodules ◽  
Surgical Pathology ◽  
Copy Number Alterations ◽  
Nodule Size ◽  
Thyroid Carcinomas ◽  
Hürthle Cell ◽  
Chromosomal Copy Number ◽  
Chromosomal Copy ◽  
Probability Of Cancer

Abstract Fine-needle aspiration (FNA) of thyroid nodules yields indeterminate cytological diagnosis in ~20% of cases, confounding patient management. This includes Hurthle cell nodules, which typically yield Bethesda IV and III cytology. Chromosomal copy number alterations (CNA) are known to occur in thyroid tumors, particularly in Hurthle cell carcinomas (HCC) as well as in other typically follicular-patterned tumors including papillary thyroid carcinomas (PTC) and poorly differentiated thyroid carcinomas (PDTC). The aim of this study was to evaluate thyroid nodules tested positive for CNA but negative for all other genomic alterations using ThyroSeq v3 NGS assay in order to establish the probability of cancer in these nodules and find whether it is influenced by the pattern of CNA and nodule size. We evaluated 111 nodules with multiple CNA detected by ThyroSeq in FNA samples and available surgical pathology outcome. Of those, 69 (62%) nodules showed CNA changes consistent with genome near-haploidization (GNH) whereas 42 (38%) nodules had multiple chromosomal losses and gains (CLG). Nodule size ranged from 0.5-10.2 cm; cytology was Bethesda III in 54%, Bethesda IV in 43%, and Bethesda V-VI in 3% of cases, with Hurthle cells mentioned in the cytology report in 64% of cases. On surgical pathology, 38 (34%) of these nodules were malignant (including 24 HCC, 8 PTC, and 5 oncocytic PDTC) and 73 (66%) were benign (including 43 Hurthle cell and 18 follicular adenomas). No significant difference was observed in probability of malignancy between the two patterns of CNA (p=0.41). However, a significant correlation between the nodule size and probability of cancer was found (p=0.006). In specific CNA groups, correlation between cancer and nodule size remained significant for nodules with GNH pattern (P=0.0002), but not with CLG pattern (p=0.449). Specifically, cancer probability in nodules with GNH pattern and <2 cm in size was 14% (all cancers minimally-invasive), 2.0-2.9 cm was 33%, 3.0-3.9 cm was 50%, 4-4.9 cm was 67%, and ≥5 cm was 80%. Among high-risk cancers (widely-invasive or angioinvasive HCC, PDTC), all 10 tumors had the GNH pattern (p=0.01) and average nodule size of 4.9 cm (range, 2.1-8.5 cm). These findings suggest that CNA of both types are frequently found in Hurthle cell tumors, and probability of cancer in nodules with CNA and no other mutations increases with larger nodule size. This may help to refine the pre-operative assessment of cancer probability and risk of more aggressive disease and offer more tailored management to these patients.

scholarly journals Whole-genome sequencing of follicular thyroid carcinomas reveal recurrent mutations in microRNA processing subunit DGCR8

2021 ◽  
Author(s):  
Johan O Paulsson ◽  
Nima Rafati ◽  
Sebastian DiLorenzo ◽  
Yi Chen ◽  
Felix Haglund ◽  
...  
Keyword(s):  
Copy Number ◽  
Somatic Mutations ◽  
Whole Genome ◽  
Cancer Genes ◽  
Copy Number Alterations ◽  
Thyroid Carcinomas ◽  
Future Studies ◽  
Recurrent Mutations ◽  
Microrna Processing ◽  
Widely Invasive

Abstract Background The genomic and transcriptomic landscape of widely invasive follicular thyroid carcinomas (wiFTCs) and Hürthle cell carcinoma (HCC) are poorly characterized and subsets of these tumors lack information on 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 11 wiFTCs and 2 HCCs with a particularly poor prognosis, and matched normal tissue. Results All wiFTCs exhibited one or several mutations in established thyroid cancer genes, including TERT (n=4), NRAS (n=3), HRAS, KRAS, AKT, PTEN, PIK3CA, MUTYH, TSHR and MEN1 (n=1 each). MutSig2CV analysis revealed recurrent somatic mutations in FAM72D (n=3, in two wiFTCs and in a single HCC), TP53 (n=3, in two wiFTCs and a single HCC) and EIF1AX (n=3), with DGCR8 (n=2) as borderline significant. The DGCR8 mutations were recurrent p.E518K missense alterations, known to cause familial multinodular goiter via disruption of microRNA processing. Expression analyses showed reduced DGCR8 mRNA expression in FTCs in general, and the two DGCR8 mutants displayed a distinct miRNA profile compared to DGCR8 wildtypes. Copy number analyses revealed recurrent gains on chromosomes 4, 6 and 10, and fusiongene analyses revealed 27 high-quality events. Both HCCs displayed hyperploidy, which was fairly unusual in the FTC cohort. Based on the transcriptome data tumors amassed in two principal clusters. Conclusion We describe the genomic and transcriptomic landscape in wiFTCs and HCCs and identify novel recurrent mutations and copy number alterations with possible driver properties and lay the foundation for future studies.

Age-related variation in gene alteration frequency in metastatic prostate cancer.

2019 ◽  
Vol 37 (7_suppl) ◽  
pp. 178-178
Author(s):  
Zachary Rockow Chalmers ◽  
Garrett Michael Frampton ◽  
Jeffrey S. Ross ◽  
Maha H. A. Hussain ◽  
Sarki Abdulkadir
Keyword(s):  
Prostate Cancer ◽  
Copy Number ◽  
Metastatic Prostate Cancer ◽  
Clinical Care ◽  
Point Mutations ◽  
Young Patients ◽  
Copy Number Alterations ◽  
Old Patients ◽  
Age Related ◽  
Younger Men

178 Background: Despite advances in therapy, metastatic prostate cancer (mPCA) remains lethal. Younger men with mPCA have a significantly greater risk of mPCA-related death compared to men diagnosed later in life. This suggests that early-onset mPCA is a uniquely aggressive subtype of disease, however, the genomic drivers have not been explored. Here, we analyze data from 2,196 mPCA specimens profiled as part of routine clinical care. Methods: Comprehensive genomic profiling was performed by hybridization capture of exonic regions from either 236, 315 or 324 cancer-related genes and select introns from 19 genes commonly rearranged in cancer. Libraries were sequenced to high, uniform coverage and assessed for all classes of genomic alterations. Tumor mutational burden (TMB) was determined from 1.1 Mb of sequence and microsatellite instability (MSI) from 114 loci. Results: 336 (15.3%) men were < 60 years old (yo), and 1,860 (84.7%) were ≥60 yo at time of biopsy. Lymph node, liver, and bone were the three most common metastatic sites in both groups, accounting for 75% of all specimens. Patients < 60 yo harbored significantly fewer AR and PTEN point mutations when compared to patients ≥60 yo (OR = 0.48, p < 0.001; OR = 0.51, p = 0.01). Copy number alterations in PTEN and CDKN2A/B were significantly more common among young patients (OR = 1.46, p = 0.003; OR = 1.91, p = 0.04). AR copy number alterations were significantly less common among young patients (OR = 0.57, p < 0.001). Although uncommon in mPCA, markers of genomic instability including MSH2 mutations and MSI were both significantly less common among patients < 60 yo (0.00% vs. 1.29%, p = 0.04; 0.89% vs. 3.06%, p = 0.03). There were no significant differences in the frequency of TP53, APC, BRCA2, ATM, and CDK12 point mutations, MYC copy number alterations, or TMPRSS2-ERG fusions. The average TMB was not significantly different between young and old patients, with 3.26 and 5.79 mutations per Mb, respectively (p = 0.19). Conclusions: Younger men with mPCA appear to represent a genomically distinct disease subtype. To better define this population, we are prospectively investigating the genomic, genetic, and environmental risk factors through an ongoing PCF funded clinical trial.

Genetic copy number alterations and IL-13 expression differences in papillary thyroid cancers and benign nodules

Endocrine ◽  
2009 ◽  
Vol 36 (1) ◽  
pp. 155-160 ◽  
Author(s):  
ZeFei Zhao ◽  
Qing Wei ◽  
YongJu Zhao ◽  
Fukang Sun ◽  
Xiaolong Jin ◽  
...  
Keyword(s):  
Copy Number ◽  
Papillary Thyroid ◽  
Copy Number Alterations ◽  
Thyroid Cancers ◽  
Benign Nodules

scholarly journals Copy Number Alteration and Uniparental Disomy Analysis Categorizes Japanese Papillary Thyroid Carcinomas into Distinct Groups

PLoS ONE ◽  
2012 ◽  
Vol 7 (4) ◽  
pp. e36063 ◽  
Author(s):  
Michiko Matsuse ◽  
Kensaku Sasaki ◽  
Eijun Nishihara ◽  
Shigeki Minami ◽  
Chisa Hayashida ◽  
...  
Keyword(s):  
Copy Number ◽  
Copy Number Alteration ◽  
Uniparental Disomy ◽  
Papillary Thyroid ◽  
Thyroid Carcinomas

Chemotherapy with doxorubicin in progressive medullary, follicular, and papillary thyroid carcinomas

2006 ◽  
Vol 114 (S 1) ◽  
Author(s):  
A Matuszczyk ◽  
S Petersenn ◽  
A Bockisch ◽  
S Sheu ◽  
P Veit ◽  
...  
Keyword(s):  
Papillary Thyroid ◽  
Thyroid Carcinomas

Sex-dependent differences in DNA copy number alterations in hepatocellular carcinoma

2012 ◽  
Vol 32 (1) ◽  
pp. 5-9 ◽  
Author(s):  
Bing-ji WEN ◽  
Wen-ming CONG ◽  
Ai-zhong WANG ◽  
Song-qin HE ◽  
Hong-mei JIANG ◽  
...  
Keyword(s):  
Hepatocellular Carcinoma ◽  
Copy Number ◽  
Copy Number Alterations ◽  
Dna Copy Number ◽  
Dna Copy Number Alterations
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