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Pheochromocytomas are diagnosed incidentally and at older age in neurofibromatosis type 1
Author(s) -
Moramarco Jessica,
El Ghorayeb Nada,
Dumas Nadine,
Nolet Serge,
Boulanger Luce,
Burnichon Nelly,
Lacroix André,
Elhaffaf Zaki,
Gimenez Roqueplo AnnePaule,
Hamet Pavel,
Bourdeau Isabelle
Publication year - 2017
Publication title -
clinical endocrinology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.055
H-Index - 147
eISSN - 1365-2265
pISSN - 0300-0664
DOI - 10.1111/cen.13265
Subject(s) - medicine , pheochromocytoma , neurofibromatosis , multiple endocrine neoplasia , metanephrines , family history , cohort , pediatrics , pathology , chemistry , gene , biochemistry
Summary Introduction Guidelines do not currently recommend routine systematic hormonal screening for pheochromocytoma ( PHEO ) in all/normotensive patients with neurofibromatosis type 1 ( NF 1), 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 NF 1 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 NF 1 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 NF 1 vs 40% in other genetic syndromes P < 0·05) and familial history of catecholamine‐secreting tumour (none in NF 1 vs 55% in patients with other genetic syndrome P < 0·05). Conclusions Pheochromocytoma in NF 1 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 NF 1.