Session: OR29-Adrenal Tumors & Pheochromocytoma
Room 134 (Moscone Center)
Objective: The aim of the study was to examine genotype-specific differences in the concentrations of various metabolites in PGLs using 1H-NMR spectroscopy.
Methods: 80 primary PGL tissues collected from patients with hereditary mutations in SDHB (n=11), SDHD (n=8), SDHAF-2 (n=1) VHL (n=7), RET (n=14), NF1 (n=7) and from sporadic patients (n=32) were investigated. Patients whose genotype was tested negative for RET, VHL and SDHA/B/C/D/AF-2 were considered as sporadics. Tumor homogenates were prepared in MilliQ water (10% w/v) and deproteinized by ultrafiltration using a 10 kDa filter. The ultrafiltrates were analyzed using 500 MHz 1H-NMR spectrometer. Validation of various metabolites identified by 1H-NMR spectroscopy was performed using HPLC and LC-MS. HPLC tandem MS was used to further investigate the levels of various purines and pyrimidines.
Results: 1H-NMR spectroscopy identified 29 different metabolites. SDH tumors showed high succinate levels, while VHL tumors showed low N-Acetylaspartate and creatine levels in comparison with other genotypes. In sporadic, RET and NF1 tumors, N-acetylaspartate and ATP/ADP/AMP were detectable while they were below detection limit in SDH tumors. Epinephrine was detectable in RET, NF-1 and some of the sporadic tumors while it was undetectable in SDH and VHL tumors. Further investigations on purines and pyrimidines in PGLs showed that adenine and adenosine in SDH and guanosine in RET tumors were below detection limit while these metabolites were detected in other genotypes. Levels of inosine and hypoxanthine were low in SDH and RET tumors respectively in comparison with the other genotypes.
Conclusion: Genotype specific differences in the levels of various metabolites were observed. Some of the metabolites detected could potentially serve as biomarkers for these tumors.
Nothing to Disclose: JU, UE, FCJS, KP, BK, AG, JWML, ARMMH, AM, GE, NQ, SR, HPK, HJT, RW
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