BACKGROUND: Limited data exist concerning the clinical and imaging features that distinguish sporadic from familial paragangliomas (PGLs). METHODS: Clinical, genetic (succinate dehydrogenase [SDHB] vs no SDHx), and imaging (computed tomography [CT], magnetic resonance imaging, (18)F-fluoro-deoxy-glucose positron emission tomography [(18)F-FDG-PET]) features obtained during a decade in 124 PGL patients were studied. Data were analyzed by Fisher's exact test or Wilcoxon rank-sum test. RESULTS: Mean age at diagnosis was younger in the SDHB-positive (SDHB+) group compared with the sporadic (no SDHx) group (28 vs 39 years, respectively, P < .001). Rate of supradiaphragmatic neoplasms were greater in the SDHB+ group (16.7 vs 4.7%, P = .11). Metastasis rates were greater in the SDHB+ group (78.9 vs 48.3%, P < .001), as was the existence of metastases or multiple PGLs at presentation (38.5 vs 16.7%, P < .05). Tumor volumes >250 mL were exclusively observed in SDHB+ patients (P < .05). On CT, SDHB+ tumors were more enhanced (P < .05). On (18)F-FDG-PET, SDHB+ tumors' had greater mean standard uptake values (12.3 vs 8.0, P < .05). CONCLUSION: Clinically young age, large tumor volume, greater rate of metastatic and multifocal PGLs, greater SUV values on (18)F-FDG-PET, and increased CT enhancement are observed in SDHB+ PGLs. These findings may warrant genetic screening. Because SDHB+ patients demonstrate more supradiaphragmatic lesions, whole-body imaging may be of particular value in these patients.
BACKGROUND: Limited data exist concerning the clinical and imaging features that distinguish sporadic from familial paragangliomas (PGLs). METHODS: Clinical, genetic (succinate dehydrogenase [SDHB] vs no SDHx), and imaging (computed tomography [CT], magnetic resonance imaging, (18)F-fluoro-deoxy-glucose positron emission tomography [(18)F-FDG-PET]) features obtained during a decade in 124 PGLpatients were studied. Data were analyzed by Fisher's exact test or Wilcoxon rank-sum test. RESULTS: Mean age at diagnosis was younger in the SDHB-positive (SDHB+) group compared with the sporadic (no SDHx) group (28 vs 39 years, respectively, P < .001). Rate of supradiaphragmatic neoplasms were greater in the SDHB+ group (16.7 vs 4.7%, P = .11). Metastasis rates were greater in the SDHB+ group (78.9 vs 48.3%, P < .001), as was the existence of metastases or multiple PGLs at presentation (38.5 vs 16.7%, P < .05). Tumor volumes >250 mL were exclusively observed in SDHB+patients (P < .05). On CT, SDHB+tumors were more enhanced (P < .05). On (18)F-FDG-PET, SDHB+tumors' had greater mean standard uptake values (12.3 vs 8.0, P < .05). CONCLUSION: Clinically young age, large tumor volume, greater rate of metastatic and multifocal PGLs, greater SUV values on (18)F-FDG-PET, and increased CT enhancement are observed in SDHB+ PGLs. These findings may warrant genetic screening. Because SDHB+patients demonstrate more supradiaphragmatic lesions, whole-body imaging may be of particular value in these patients.
Authors: B E Baysal; R E Ferrell; J E Willett-Brozick; E C Lawrence; D Myssiorek; A Bosch; A van der Mey; P E Taschner; W S Rubinstein; E N Myers; C W Richard; C J Cornelisse; P Devilee; B Devlin Journal: Science Date: 2000-02-04 Impact factor: 47.728
Authors: D Astuti; F Latif; A Dallol; P L Dahia; F Douglas; E George; F Sköldberg; E S Husebye; C Eng; E R Maher Journal: Am J Hum Genet Date: 2001-06-12 Impact factor: 11.025
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Authors: Sophie Gabriel; Elise M Blanchet; Frédéric Sebag; Clara C Chen; Nicolas Fakhry; Arnaud Deveze; Anne Barlier; Isabelle Morange; Karel Pacak; David Taïeb Journal: Clin Endocrinol (Oxf) Date: 2013-05-06 Impact factor: 3.478
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