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Pheochromocytomas are diagnosed incidentally and at older age in neurofibromatosis type 1.

Abstract：

INTRODUCTION:Guidelines do not currently recommend routine systematic hormonal screening for pheochromocytoma (PHEO) in all/normotensive patients with neurofibromatosis type 1 (NF1), in contrast to other PHEO-predisposing genetic syndromes such as Von Hippel-Lindau syndrome and multiple endocrine neoplasia type 2. OBJECTIVES:To characterize and compare parameters of PHEO in patients with NF1 to patients with or without other germline mutations. METHODS:A retrospective chart review of patients with histologically proven PHEO at the Centre hospitalier de l'Université de Montréal from 2000 through 2015. RESULTS:Neurofibromatosis type 1 was diagnosed clinically in nine patients in our cohort of 145 PHEO (6·2%). The mean age at diagnosis was 48 ± 14 years, and seven patients had hypertension. No PHEO was diagnosed by systematic clinical screening. The mode of presentation was adrenal incidentalomas in five patients. Urinary metanephrines were elevated in 5/9 cases. Mean tumour diameter was 3·5 cm (min-max 1·5-12·5 cm). One had bilateral PHEO and none were malignant to date. Statistically significant differences were noted when comparing PHEO in NF1 to other genetic syndromes (n = 20), in terms of age at diagnosis (mean 48 vs 30 years P < 0·05), initial mode of presentation (no PHEO detected by routine screening in NF1 vs 40% in other genetic syndromes P < 0·05) and familial history of catecholamine-secreting tumour (none in NF1 vs 55% in patients with other genetic syndrome P < 0·05). CONCLUSIONS:Pheochromocytoma in NF1 occurs in older patients with no family history compared to other syndromes; it is mostly unilateral, secretory and benign. The older age at diagnosis of PHEO could be secondary to delay in identification due to lack of systematic screening for PHEO in NF1.

journal_name

Clin Endocrinol (Oxf)

journal_title

Clinical endocrinology

authors

Moramarco J,El Ghorayeb N,Dumas N,Nolet S,Boulanger L,Burnichon N,Lacroix A,Elhaffaf Z,Gimenez Roqueplo AP,Hamet P,Bourdeau I

doi

10.1111/cen.13265

subject

Has Abstract

pub_date

2017-03-01 00:00:00

pages

332-339

issue

eissn

0300-0664

issn

1365-2265

journal_volume

pub_type

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Pheochromocytomas are diagnosed incidentally and at older age in neurofibromatosis type 1.