Jessica Moramarco1, Nada El Ghorayeb1, Nadine Dumas2, Serge Nolet3, Luce Boulanger4, Nelly Burnichon5,6,7, André Lacroix1, Zaki Elhaffaf2, Anne-Paule Gimenez Roqueplo5, Pavel Hamet2, Isabelle Bourdeau1,2. 1. Division of Endocrinology, Department of Medicine, Centre de Recherche du Centre hospitalier de l'Université de Montréal, Montreal, Quebec, Canada. 2. Division of Genetics, Centre hospitalier de l'Université de Montréal, Montreal, Quebec, Canada. 3. Pathology Department, Centre hospitalier de l'Université de Montréal, Montreal, Quebec, Canada. 4. Biochemistry Department, Centre hospitalier de l'Université de Montréal, Montreal, Quebec, Canada. 5. Assistance Publique - Hôpitaux de Paris, Service de Génétique, Hôpital Européen Georges Pompidou, Paris, France. 6. Faculté de Médecine, Université Paris Descartes, Sorbonne Paris Cité, Paris, France. 7. INSERM, UMR970, Centre de recherche de l'HEGP, Paris, France.
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.
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.
Authors: Ahmed Al-Sharefi; Usman Javaid; Petros Perros; John Ealing; Peter Truran; Sath Nag; Shafie Kamaruddin; Kamal Abouglila; Fiona Cains; Lauren Lewis; Robert Andrew James Journal: Eur Endocrinol Date: 2019-08-16
Authors: Natalie Rogowski-Lehmann; Aikaterini Geroula; Aleksander Prejbisz; Henri J L M Timmers; Felix Megerle; Mercedes Robledo; Martin Fassnacht; Stephanie Fliedner; Martin Reincke; Anthony Stell; Andrzej Januszewicz; Jacques Lenders; Graeme Eisenhofer; Felix Beuschlein Journal: Endocr Connect Date: 2018-09-01 Impact factor: 3.335