Dataset Information

Exome analysis of carotid body tumor.

ABSTRACT: BACKGROUND:Carotid body tumor (CBT) is a form of head and neck paragangliomas (HNPGLs) arising at the bifurcation of carotid arteries. Paragangliomas are commonly associated with germline and somatic mutations involving at least one of more than thirty causative genes. However, the specific functionality of a number of these genes involved in the formation of paragangliomas has not yet been fully investigated. METHODS:Exome library preparation was carried out using Nextera® Rapid Capture Exome Kit (Illumina, USA). Sequencing was performed on NextSeq 500 System (Illumina). RESULTS:Exome analysis of 52 CBTs revealed potential driver mutations (PDMs) in 21 genes: ARNT, BAP1, BRAF, BRCA1, BRCA2, CDKN2A, CSDE1, FGFR3, IDH1, KIF1B, KMT2D, MEN1, RET, SDHA, SDHB, SDHC, SDHD, SETD2, TP53BP1, TP53BP2, and TP53I13. In many samples, more than one PDM was identified. There are also 41% of samples in which we did not identify any PDM; in these cases, the formation of CBT was probably caused by the cumulative effect of several not highly pathogenic mutations. Estimation of average mutation load demonstrated 6-8 mutations per megabase (Mb). Genes with the highest mutation rate were identified. CONCLUSIONS:Exome analysis of 52 CBTs for the first time revealed the average mutation load for these tumors and also identified potential driver mutations as well as their frequencies and co-occurrence with the other PDMs.

SUBMITTER: Snezhkina AV

PROVIDER: S-EPMC5836820 | biostudies-literature | 2018 Feb

REPOSITORIES: biostudies-literature

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Exome analysis of carotid body tumor.

Snezhkina Anastasiya V AV Lukyanova Elena N EN Kalinin Dmitry V DV Pokrovsky Anatoly V AV Dmitriev Alexey A AA Koroban Nadezhda V NV Pudova Elena A EA Fedorova Maria S MS Volchenko Nadezhda N NN Stepanov Oleg A OA Zhevelyuk Ekaterina A EA Kharitonov Sergey L SL Lipatova Anastasiya V AV Abramov Ivan S IS Golovyuk Alexander V AV Yegorov Yegor E YE Vishnyakova Khava S KS Moskalev Alexey A AA Krasnov George S GS Melnikova Nataliya V NV Shcherbo Dmitry S DS Kiseleva Marina V MV Kaprin Andrey D AD Alekseev Boris Y BY Zaretsky Andrew R AR Kudryavtseva Anna V AV

BMC medical genomics 20180213 Suppl 1

<h4>Background</h4>Carotid body tumor (CBT) is a form of head and neck paragangliomas (HNPGLs) arising at the bifurcation of carotid arteries. Paragangliomas are commonly associated with germline and somatic mutations involving at least one of more than thirty causative genes. However, the specific functionality of a number of these genes involved in the formation of paragangliomas has not yet been fully investigated.<h4>Methods</h4>Exome library preparation was carried out using Nextera® Rapid ...[more]

PMID: 29504908

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Project description:BackgroundCarotid body tumors (CBTs) are rare entities for which surgical resection remains the gold standard. Given their hypervascularity, preoperative embolization is often used; however, controversy exists over whether a benefit is associated. Proponents of embolization argue that it minimizes blood loss and complications. Critics argue that cost and stroke outweigh benefits. This study aimed to investigate the impact of embolization on outcomes following CBT resection.MethodsPatients undergoing CBT resection were identified using the Healthcare Cost and Utilization Project State Inpatient Database for 5 states between 2006 and 2013. Patients were divided into 2 groups: carotid body tumor resection alone (CBTR) and carotid body tumor resection with preoperative arterial embolization (CBETR). Descriptive statistics were calculated using arithmetic means with standard deviations for continuous variables and proportions for categorical variables. Patients were propensity score matched on the basis of sex, age, race, insurance, and comorbidity prior to analysis. Risk-adjusted odds of mortality, stroke, nerve injury, blood loss, and length of stay (LOS) were calculated using mixed-effects regression models with fixed effects for age, race, sex, and comorbidities.ResultsA total of 547 patients were identified. Of these, 472 patients underwent CBTR and 75 underwent CBETR. Mean age was 54.7 ± 16 years. Mean number of days between embolization and resection was 0.65 ± 0.72 days (range 0-3). When compared with CBTR, there were no significant differences in mortality for CBETR (1.35% vs. 0%, P = 0.316), cranial nerve injury (2.7% vs. 0%, P = 0.48), and blood loss (2.7% vs. 6.8%, P = 0.245). Following risk adjustment, CBETR increased the odds of prolonged LOS (odds ratio 5.3, 95% confidence interval 2.1-13.3).ConclusionsCBT resection is a relatively rare procedure. The utility of preoperative tumor embolization has been questioned. This study demonstrates no benefit of preoperative tumor embolization.

Dataset Information

Exome analysis of carotid body tumor.

Publications

Exome analysis of carotid body tumor.

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