Pheochromocytoma associated with neurofibromatosis type 1: concepts and current trends

Abstract

BackgroundNeurofibromatosis Type 1(NF-1) has autosomal dominant inheritance with complete penetrance, variable expression and a high rate of new mutation. Pheochromocytoma occurs in 0.1%-5.7% of patients with NF-1.Case presentationWe present the case of a 37-year-old patient with laparoscopically resected pheochromocytoma. He was investigated for hypertension, flushing and ectopic heart beat. Abdominal CT and MRI revealed a mass measuring 8 × 4 cm in the right adrenal gland. The diagnosis of pheochromocytoma was confirmed by elevated 24-hour urine levels of VMA, metanephrines and catecholamines as well as positive MIBG scan. The patient presented with classic clinical features of NF-1, which was confirmed by pathologic evaluation of an excised skin nodule. The patient underwent laparoscopic right adrenalectomy through a transabdominal approach and was discharged on the second postoperative day, being normotensive. The patient is normotensive without antihypertensive therapy 11 years after the procedure.ConclusionNowadays in the era of laparoscopy, patients with pheochromocytoma reach the operating theatre easier than in the past. Despite, the feasibility and oncological efficacy of the laparoscopic approach to the adrenals, continued long term follow-up is needed to establish the minimally invasive technique as the preferred approach. Furthermore, these patients should be further investigated for other neoplasias and stigmata of other neurocutaneous syndromes, taking into account the association of the familial pheochromo-cytoma with other familial basis inherited diseases.

Pediatric patients with pheochromocytoma and paraganglioma should have routine preoperative genetic testing for common susceptibility genes in addition to imaging to detect extra-adrenal and metastatic tumors

“…Rarely, patients with neurofibromatosis type 1 (NF1) present with a PC (1–5.7% of patients). This syndrome is caused by a mutation in the NF1 tumor suppressor gene 15 and is commonly diagnosed based on clinical criteria, which includes the presence of six or more caféau-lait spots, two or more neurofibromas and the presence of axillary or inguinal freckles 16,17 . MAX, myc-associated factor X, mutation was recently characterized 18 .…”

Neoplasms Associated with Germline and Somatic NF1 Gene Mutations

“…The mean age of presentation for NF1-associated PCC is 42 years compared with 47 years for sporadic cases with a male/female ratio of 1:1.4 [115,118]. Symptoms related to PCC like headache, palpitations, diaphoresis, anxiety, and hypertension are seen in 61% of patients with NF1-associated PCC [115].…”

Pheochromocytoma and paraganglioma in patients with neurofibromatosis type 1

“…Pheochromocytoma and paraganglioma (PHEO/PGL) are neuroendocrine tumours which may hypersecrete catecholamines. Patients with NF1 have multiple medical issues and carry an increased risk for PHEO/PGL compared with the general population . The prevalence of PHEO/PGL in NF1 has been reported between 1 and 5% based on a small series of patients .…”