Novel insights into the polycythemia-paraganglioma-somatostatinoma syndrome
| Autor: | Ivana Jochmanova, Arthur S. Tischler, Vera Popovic, Emily Y. Chew, Jaydira Del Rivero, Dragana Miljic, Alexander Ling, Ingo Janssen, Roland Därr, Maria J. Merino, Joan Nambuba, Electron Kebebew, Josef T. Prchal, Clara C. Chen, Constantine A. Stratakis, Meredith R. Golomb, Zhengping Zhuang, Milena Todorovic, Tito Fojo, Chunzhang Yang, Bela Balint, David Taïeb, Michael J. Ferguson, Karen T. Adams, Naris Nilubol, F Ryan Prall, Ronald M. Lechan, Karel Pacak |
|---|---|
| Rok vydání: | 2016 |
| Předmět: |
0301 basic medicine
Adult Male Cancer Research medicine.medical_specialty Adolescent Endocrinology Diabetes and Metabolism Gallbladder disease Adrenal Gland Neoplasms Polycythemia Article Pheochromocytoma Cohort Studies Neoplasms Multiple Primary Paraganglioma 03 medical and health sciences Young Adult 0302 clinical medicine Endocrinology Pathognomonic Somatostatinoma medicine Humans Young adult Child Retrospective Studies medicine.diagnostic_test business.industry Retrospective cohort study Magnetic resonance imaging Syndrome Middle Aged medicine.disease 3. Good health Pancreatic Neoplasms 030104 developmental biology Oncology 030220 oncology & carcinogenesis Disease Progression Female Radiology business |
| Zdroj: | Endocrine-related cancer. 23(12) |
| ISSN: | 1479-6821 |
| Popis: | Worldwide, the syndromes of paraganglioma (PGL), somatostatinoma (SOM) and early childhood polycythemia are described in only a few patients with somatic mutations in the hypoxia-inducible factor 2 alpha (HIF2A). This study provides detailed information about the clinical aspects and course of 7 patients with this syndrome and brings into perspective these experiences with the pertinent literature. Six females and one male presented at a median age of 28 years (range 11–46). Two were found to haveHIF2Asomatic mosaicism. No relatives were affected. All patients were diagnosed with polycythemia before age 8 and before PGL/SOM developed. PGLs were found at a median age of 17 years (range 8–38) and SOMs at 29 years (range 22–38). PGLs were multiple, recurrent and metastatic in 100, 100 and 29% of all cases, and SOMs in 40, 40 and 60%, respectively. All PGLs were primarily norepinephrine-producing. All patients had abnormal ophthalmologic findings and those with SOMs had gallbladder disease. Computed tomography (CT) and magnetic resonance imaging revealed cystic lesions at multiple sites and hemangiomas in 4 patients (57%), previously thought to be pathognomonic for von Hippel–Lindau disease. The most accurate radiopharmaceutical to detect PGL appeared to be [18F]-fluorodihydroxyphenylalanine ([18F]-FDOPA). Therefore, [18F]-FDOPA PET/CT, not [68Ga]-(DOTA)-[Tyr3]-octreotate ([68Ga]-DOTATATE) PET/CT is recommended for tumor localization and aftercare in this syndrome. The long-term prognosis of the syndrome is unknown. However, to date no deaths occurred after 6 years follow-up. Physicians should be aware of this unique syndrome and its diagnostic and therapeutic challenges. |
| Databáze: | OpenAIRE |
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