ReviewFrontiers in endocrinology2025
A novel germline (c.314T>A)
Review in Frontiers in endocrinology, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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12 authors.
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Abstract
Introduction: most sympathetic paragangliomas are driven by germline pathogenic variants. Identifying germline succinate dehydrogenase B ( Case presentation: a 37-year-old Serbian man was admitted to hospital due to hypertension, tachycardia and hyperhidrosis. Screening for secondary hypertension revealed elevated 24-h urinary normetanephrine. A CT scan showed the presence of a 54 x 76 mm retroperitoneal mass that surrounded the aorta, which was located below the pancreas and behind the duodenum. The patient was diagnosed having extra-adrenal sympathetic metastatic paraganglioma (PGL), for which we scheduled debulking surgery and genetic testing. Tumor debulking improved patient symptoms as well as signs of catecholamine excess and tumor mass effects. Meanwhile waiting for next-generation sequencing (NGS) results, the patient started a treatment with sunitinib. At this point, NGS results showed a novel and previously not reported germline Conclusion: Clinical characteristics as well as data from SDHB immunohistochemistry well support reclassification of the novel germline
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