FaCD Online Syndrome Fact Sheet

Last updated: 15 May 2013

Name: Paraganglioma and Somatostatinoma associated with Polycythemia

Mode of Inheritance: spor

Genes

EPAS1 / HIF2A, mapped to 2p21

Tumor features

paraganglioma, chromaffin (extra-adrenal pheochromocytoma)
pheochromocytoma
somatostatinoma

Non-tumor features

polycythemia

Comment

Pacak et al[1] reported 4 unrelated patients with polycythemia, multiple paragangliomas and duodenal somatostatinomas. Tumor-related symptoms started to develop in their teens. Somatic, but not germline, gain of function mutations in HIF2A were detected in these tumors. Taïeb et al[2] reported a patient with congenital polycythemia, bilateral pheochromocytomas and multiple paragangliomas. Tumors were diagnosed at age 20 years. Again, a somatic gain of function HIF2A mutation was observed.

References

[1] Pacak K, Jochmanova I, Prodanov T, Yang C, Merino MJ, Fojo T, Prchal JT, Tischler AS, Lechan RM, Zhuang Z. New syndrome of paraganglioma and somatostatinoma associated with polycythemia. J Clin Oncol. 2013 May 1;31(13):1690-8
[2] Taïeb D, Yang C, Delenne B, Zhuang Z, Barlier A, Sebag F, Pacak K. First Report of Bilateral Pheochromocytoma in the Clinical Spectrum of HIF2A-Related Polycythemia-Paraganglioma Syndrome. J Clin Endocrinol Metab. 2013 May;98(5):E908-13.