Pheochromocytomatosis associated with a novel TMEM127 mutation
Open Access
- 25 May 2017
- journal article
- Published by Bioscientifica in Endocrinology, Diabetes & Metabolism Case Reports
- Vol. 2017
- https://doi.org/10.1530/edm-17-0026
Abstract
Summary: 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.Keywords
This publication has 10 references indexed in Scilit:
- MANAGEMENT OF ENDOCRINE DISEASE: Recurrence or new tumors after complete resection of pheochromocytomas and paragangliomas: a systematic review and meta-analysisActa Endocrinologica, 2016
- Ikerpárban előforduló örökletes phaeochromocytomaOrvosi Hetilap, 2016
- European Society of Endocrinology Clinical Practice Guideline for long-term follow-up of patients operated on for a phaeochromocytoma or a paragangliomaActa Endocrinologica, 2016
- Novel SDHB and TMEM127 Mutations in Patients with Pheochromocytoma/Paraganglioma SyndromePathology and Oncology Research, 2016
- Penetrance and Clinical Features of Pheochromocytoma in a Six-Generation Family Carrying a Germline TMEM127 MutationJournal of Clinical Endocrinology & Metabolism, 2015
- Peritoneal Implantation of Pheochromocytoma Following Tumor Capsule Rupture During SurgeryJournal of Clinical Endocrinology & Metabolism, 2014
- Paraganglioma and phaeochromocytoma: from genetics to personalized medicineNature Reviews Endocrinology, 2014
- Pheochromocytomatosis: A Risk after Pheochromocytoma SurgeryThe American Surgeon, 2010
- Iatrogenic pheochromocytomatosis: A previously unreported result of laparoscopic adrenalectomySurgery, 2001
- Persistent and recurrent pheochromocytoma: The role of surgeryWorld Journal of Surgery, 1982