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Novel insights into the polycythemia-paraganglioma-somatostatinoma syndrome.
- Source :
-
Endocrine-related cancer [Endocr Relat Cancer] 2016 Dec; Vol. 23 (12), pp. 899-908. Date of Electronic Publication: 2016 Sep 27. - 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 have HIF2A somatic 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 [ <superscript>18</superscript> F]-fluorodihydroxyphenylalanine ([ <superscript>18</superscript> F]-FDOPA). Therefore, [ <superscript>18</superscript> F]-FDOPA PET/CT, not [ <superscript>68</superscript> Ga]-(DOTA)-[Tyr3]-octreotate ([ <superscript>68</superscript> Ga]-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.<br />Competing Interests: Declaration of interest The authors declare that there is no conflict of interest that could be perceived as prejudicing the impartiality of the research reported.<br /> (© 2016 Society for Endocrinology.)
- Subjects :
- Adolescent
Adrenal Gland Neoplasms complications
Adrenal Gland Neoplasms diagnosis
Adrenal Gland Neoplasms therapy
Adult
Child
Cohort Studies
Disease Progression
Female
Humans
Male
Middle Aged
Neoplasms, Multiple Primary complications
Neoplasms, Multiple Primary diagnosis
Neoplasms, Multiple Primary therapy
Pancreatic Neoplasms complications
Pancreatic Neoplasms diagnosis
Pancreatic Neoplasms therapy
Paraganglioma complications
Paraganglioma diagnosis
Paraganglioma therapy
Polycythemia complications
Polycythemia diagnosis
Polycythemia therapy
Retrospective Studies
Somatostatinoma complications
Somatostatinoma diagnosis
Somatostatinoma therapy
Syndrome
Young Adult
Adrenal Gland Neoplasms pathology
Neoplasms, Multiple Primary pathology
Pancreatic Neoplasms pathology
Paraganglioma pathology
Polycythemia pathology
Somatostatinoma pathology
Subjects
Details
- Language :
- English
- ISSN :
- 1479-6821
- Volume :
- 23
- Issue :
- 12
- Database :
- MEDLINE
- Journal :
- Endocrine-related cancer
- Publication Type :
- Academic Journal
- Accession number :
- 27679736
- Full Text :
- https://doi.org/10.1530/ERC-16-0231