Pheochromocytomatosis associated with a novel TMEM127 mutation

Run Yu; Danielle Sharaga; Christopher Donner; M Fernando Palma Diaz; Masha J Livhits; Michael W Yeh

doi:10.1530/EDM-17-0026

Pheochromocytomatosis associated with a novel TMEM127 mutation

Endocrinol Diabetes Metab Case Rep. 2017 May 25:2017:17-0026. doi: 10.1530/EDM-17-0026. eCollection 2017.

Authors

Run Yu¹, Danielle Sharaga², Christopher Donner³, M Fernando Palma Diaz⁴, Masha J Livhits⁵, Michael W Yeh⁵

Affiliations

¹ Division of Endocrinology, Diabetes, and Metabolism, UCLA David Geffen School of Medicine, Los Angeles, USA.
² Cancer Center of Santa Barbara with Sansum Clinic, Santa Barbara, California, USA.
³ Sansum Clinic, Santa Barbara, California, USA.
⁴ Department of Pathology.
⁵ Section of Endocrine Surgery, UCLA David Geffen School of Medicine, Los Angeles, USA.

Abstract

Pheochromocytomatosis, a very rare form of pheochromocytoma recurrence, refers to new, multiple, and often small pheochromocytomas growing in and around the surgical resection bed of a previous adrenalectomy for a solitary pheochromocytoma. We here report a case of pheochromocytomatosis in a 70-year-old female. At age 64 years, she was diagnosed with a 6-cm right pheochromocytoma. She underwent laparoscopic right adrenalectomy, during which the tumor capsule was ruptured. At age 67 years, CT of abdomen did not detect recurrence. At age 69 years, she began experiencing episodes of headache and diaphoresis. At age 70 years, biochemical markers of pheochromocytoma became elevated with normal calcitonin level. CT revealed multiple nodules of various sizes in the right adrenal fossa, some of which were positive on metaiodobenzylguanidine (MIBG) scan. She underwent open resection of pheochromocytomatosis. Histological examination confirmed numerous pheochromocytomas ranging 0.1-1.2 cm in size. Next-generation sequencing of a panel of genes found a novel heterozygous germline c.570delC mutation in TMEM127, one of the genes that, if mutated, confers susceptibility to syndromic pheochromocytoma. Molecular analysis showed that the c.570delC mutation is likely pathogenic. Our case highlights the typical presentation of pheochromocytomatosis, a rare complication of adrenalectomy for pheochromocytoma. Previous cases and ours collectively demonstrate that tumor capsule rupture during adrenalectomy is a risk factor for pheochromocytomatosis. We also report a novel TMEM127 mutation in this case.

Learning points: Pheochromocytomatosis is a very rare form of pheochromocytoma recurrence.Pheochromocytomatosis refers to new, multiple and often small pheochromocytomas growing in and around the surgical resection bed of a previous adrenalectomy for a solitary pheochromocytoma.Tumor capsule rupture during adrenalectomy predisposes a patient to develop pheochromocytomatosis.Surgical resection of the multiple tumors of pheochromocytomatosis is recommended.Pheochromocytoma recurrence should prompt genetic testing for syndromic pheochromocytoma.