Pheochromocytoma and paraganglioma in patients with neurofibromatosis type 1

Lucinda M. Gruber, Dana Erickson, Dusica Babovic-Vuksanovic, Geoffrey B. Thompson, William Francis Young, Irina Bancos

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26 Scopus citations

Abstract

Objective: Individuals with neurofibromatosis type 1 (NF1) are at an increased risk of developing a pheochromocytoma or paraganglioma (PHEO/PGL). However, the best case detection strategy is unknown. Our objectives were to describe the prevalence, clinical presentation and outcomes of PHEO/PGL associated with NF1 and formulate case detection testing recommendations for PHEO/PGL. Design: A retrospective cohort study from 1959 to 2015, Tertiary medical centre. Patients and Measurements: We studied 41 patients with NF1 and PHEO/PGL who were identified using the PHEO/PGL and NF1 databases: 3289 and 1415 patients, respectively. Our main outcome measures were prevalence of PHEO/PGL in NF1 and occurrence of bilateral, recurrent, or metastatic disease and method of PHEO/PGL detection (symptoms vs incidental vs biochemical case detection testing). Results: The prevalence of PHEO/PGL in patients with NF1 was 2·9%. The 41 patients included 23 men (56%) and 18 women. The median age at diagnosis was 41·0 years (range 14–67). The median tumour size was 3·4 cm (range 0·8–9·5). Bilateral PHEO was identified in 17% (n = 7) of patients, all women. Metastatic or recurrent disease occurred in 7·3% (n = 3). In the last 25 years, PHEO/PGL was diagnosed after incidental finding on computed imaging in 31% of patients (n = 11). Only three patients (7·3%) had PHEO/PGL discovered because of biochemical case detection testing. Conclusion: We recommend patients with NF1 have biochemical case detection testing for PHEO/PGL every 3 years starting at age 10 to 14 years. Biochemical case detection testing should also be carried out prior to elective surgical procedures and conception.

Original languageEnglish (US)
Pages (from-to)141-149
Number of pages9
JournalClinical Endocrinology
Volume86
Issue number1
DOIs
StatePublished - Jan 1 2017

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ASJC Scopus subject areas

  • Endocrinology, Diabetes and Metabolism

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