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URINARY BLADDER PARAGANGLIOMA- A NOTEWORTHY, RARE ENTITY.
Acta Endocrinol (Buchar)
January 2025
All India Institute of Medical Science, Department of Pathology & Lab Medicine, Mangalagiri, Guntur, India.
Unlabelled: Urinary Bladder paraganglioma accounts for 0.06% of all bladder tumors and 1% of all pheochromocytoma. Most tumors are localized at the dome or trigone and are unifocal.
View Article and Find Full Text PDFPheochromocytoma and paraganglioma are often associated with hereditary syndromes, particularly those involving genes such as , which is linked to multiple endocrine neoplasia type 2A. Genetic testing plays a crucial role in diagnosing these conditions, guiding treatment strategies, and providing early intervention options for the affected families. A 57-year-old man presenting with back pain was found to have a left adrenal tumor and a retroperitoneal tumor near the left renal hilum.
View Article and Find Full Text PDFHereditary renal mass syndromes: a pictorial review.
Abdom Radiol (NY)
September 2024
Department of Radiology, Stanford University, Stanford, CA, 94305, USA.
Hereditary renal mass syndromes, although rare, account for at least 3-5% of kidney cancers and significantly impact affected families. Accurate diagnosis and management by radiologists are crucial as these syndromes often present at imaging with both renal and extra-renal manifestations. The radiologist may be the first to recognize these stigmata at imaging, some of which satisfy major features for diagnosis and obviate the need for genetic testing.
View Article and Find Full Text PDFGiant Cystic Pheochromocytoma Associated With Neurofibromatosis Type 1: A Case Report.
Cureus
May 2024
Department of Endocrinology, Diabetology, Metabolic Diseases and Nutrition, Hassan II University Hospital, Fes, MAR.
Pheochromocytomas are tumors that develop from the chromaffin cells of the adrenal medulla. More than 40% of cases of pheochromocytomas are associated with genetic conditions such as neurofibromatosis type 1 (NF1) or von Hippel-Lindau syndrome. Cystic pheochromocytomas are rare, generally asymptomatic, and thus of bigger size at the time of diagnosis.
View Article and Find Full Text PDFRobotic Resection in Succinate Dehydrogenase Subunit B (SDHB)-Mutated Hereditary Paraganglioma: A Case Report of Two Patients and A Literature Review.
Cureus
March 2024
Surgical Oncology, Marshfield Medical Center, Wisconsin, USA.
Autosomal dominant hereditary paraganglioma-pheochromocytoma syndrome (HPPS) is a rare genetic disorder characterized by neuroendocrine tumor development associated with pathogenic variants in succinate dehydrogenase (SDH) enzyme complex genes. Particularly, HPPS linked to SDHB mutation poses a significant clinical challenge due to its association with aggressive tumor features and a high risk of malignancy. Our report underscores the diversity in the presentation of patients with SDHB-mutated paraganglioma and the feasibility of managing it with a minimally invasive surgical approach.
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