TY - JOUR
T1 - Pheochromocytoma and paraganglioma in patients with neurofibromatosis type 1
AU - Gruber, Lucinda M.
AU - Erickson, Dana
AU - Babovic-Vuksanovic, Dusica
AU - Thompson, Geoffrey B.
AU - Young, William F.
AU - Bancos, Irina
N1 - Publisher Copyright:
© 2016 John Wiley & Sons Ltd
PY - 2017/1/1
Y1 - 2017/1/1
N2 - 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.
AB - 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.
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U2 - 10.1111/cen.13163
DO - 10.1111/cen.13163
M3 - Article
C2 - 27460956
AN - SCOPUS:84992075139
SN - 0300-0664
VL - 86
SP - 141
EP - 149
JO - Clinical Endocrinology
JF - Clinical Endocrinology
IS - 1
ER -