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Novel insights into the polycythemia-paraganglioma-somatostatinoma syndrome
- Source :
- Endocrine-related cancer. 23(12)
- Publication Year :
- 2016
-
Abstract
- 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.
- Subjects :
- 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
Subjects
Details
- ISSN :
- 14796821
- Volume :
- 23
- Issue :
- 12
- Database :
- OpenAIRE
- Journal :
- Endocrine-related cancer
- Accession number :
- edsair.doi.dedup.....fe7500258e7b75ba8f725b7153e9955c