Neurofibromatosis 1 with pheochromocytoma

Abstract

Von Hippel–Lindau (VHL) disease includes a wide spectrum of highly vascular tumors like pheochromocytoma, cysts and adenomas of the pancreas and kidney, endolymphatic sac and renal cell carcinoma. Molecular analysis of the VHL gene is vital in these patients and their kindred. Neuroendocrine pancreatic tumors are rare and are known for their malignant and metastatic potential. We discuss an interesting case of a young lady who had a strong family history of central nervous system and spinal tumors. Our patient presented with recently detected severe hypertension. She was found to have elevated urinary normetanephrine levels; radiological imaging revealed bilateral pheochromocytomas with a pancreatic lesion. On genetic analysis, a variation, c.IVS 2 + 3 A > G, was found in the intronic region following exon 2 of the VHL gene. This variant appears novel. This patient underwent bilateral adrenalectomy (right total and left cortical sparing), distal pancreatectomy and splenectomy. Histology was diagnostic for pheochromocytoma with a neuroendocrine tumor of the pancreas. The postoperative period was uneventful. She was advised genetic screening of all her first-degree relatives.

‘Adrenal rush’ in a patient with Neurofibromatosis-1

“…Studies have shown that almost 5–7% of NF-1 patients develop pheochromocytomas or paragangliomas in their lifetimes [ 7 ]. While the incidence rate of PHEO in NF-1 with hypertension has been reported to be as high as 20–50% [ 9 ]. We have also described a similar scenario where a patient with NF-1 and hypertension was eventually diagnosed to have a PHEO.…”

When should genetic testing be performed in patients with neuroendocrine tumours?

“…Neurofibromatosis Type 1 (NF1) is characterised by cutaneous café-au-lait spots, Lisch nodules in the iris, freckling of the axillary and inguinal regions and multiple cutaneous neurofibromas. It is associated with phaeochromocytoma in approximately 1% of patients and GEP NETs in a similar percentage [ 15 , 25 ]. NF1 is caused by a mutation in the tumour suppressor gene NF1 , which is localised on the long arm of chromosome 17.…”

The use of montelukast for pruritus in neurofibromatosis 1

“… 1 NF1 patients also have a higher predilection for developing tumors, such as pheochromocytomas, gastrointestinal stromal tumors, and paraganglionomas. 2 Pheochromocytomas, in particular, occur in only 0.1%–5.7% of patients with neurofibromatosis. 2 Therefore, there is minimal literature on the treatment and therapeutic side effects of pheochromocytomas in the context of NF1.…”