scholarly journals Interest of systematic screening of pheochromocytoma in patients with neurofibromatosis type 1

2016 ◽  
Vol 175 (4) ◽  
pp. 335-344 ◽  
Author(s):  
Lori Képénékian ◽  
Thomas Mognetti ◽  
Jean-Christophe Lifante ◽  
Anne-Laure Giraudet ◽  
Claire Houzard ◽  
...  
Keyword(s):  
Prospective Study ◽  
Pet Imaging ◽  
Neurofibromatosis Type 1 ◽  
Neurofibromatosis Type ◽  
Systematic Screening ◽  
Tertiary Center ◽  
A Prospective Study ◽  
Urinary Metanephrines ◽  
Metaiodobenzylguanidine Scintigraphy

Objective Pheochromocytoma (PHEO) may occur in 0.1–5.7% of patients presenting with a neurofibromatosis type 1 (NF1). Current recommendations are to explore only symptomatic patients. The objective of the study is to evaluate the prevalence and the interest of a systematic PHEO screening in this population. Design A prospective study in a French tertiary center including consecutive NF1 patients older than 18 years. Methods A systematic screening combining abdominal imaging and urinary fractionated metanephrines was proposed. In case of positivity of one or both exams, 123I-metaiodobenzylguanidine scintigraphy or [18F]-fluoro-dihydroxyphenylalanine PET imaging was performed. The diagnosis of secreting PHEO was retained in case of elevated urinary metanephrines associated with positive scintigraphy and non-secreting PHEO when urinary metanephrines were normal with a positive scintigraphy. Results Between January 2014 and August 2015, 234 patients were included and 156 patients (66.7%) completed both exams. In these 156 patients, 12 PHEOs were diagnosed, representing a prevalence of 7.7%. Of these, six PHEOs were secreting, with only two symptomatic patients. The tumor size of these PHEOs were bigger than that of non-secreting PHEO (25.2 ± 6.6 vs 14 ± 6.9 mm, P = 0.0165). One lesion was bilateral. Mean metanephrine and normetanephrine levels were 3.2 ± 2.6N and 2.8 ± 1N respectively. Three patients underwent surgery. The six patients with non-secreting PHEO were asymptomatic. One of them had bilateral lesion and one underwent surgery. Conclusions PHEO in NF1, whether or not secreting, are mostly asymptomatic. The current strategy to explore only symptomatic patients leads to an underestimation of prevalence with the risks inherent to the existence of an unrecognized PHEO.

scholarly journals A prospective study of neurofibromatosis type 1 cancer incidence in the UK

2006 ◽  
Vol 95 (2) ◽  
pp. 233-238 ◽  
Author(s):  
L Walker ◽  
D Thompson ◽  
D Easton ◽  
B Ponder ◽  
M Ponder ◽  
...  
Keyword(s):  
Prospective Study ◽  
Cancer Incidence ◽  
Neurofibromatosis Type 1 ◽  
Neurofibromatosis Type ◽  
The Uk ◽  
A Prospective Study

MRI findings in children with neurofibromatosis type 1: a prospective study

1996 ◽  
Vol 26 (7) ◽  
pp. 478-487 ◽  
Author(s):  
S. Van Es ◽  
K. N. North ◽  
K. McHugh ◽  
M. De Silva
Keyword(s):  
Prospective Study ◽  
Neurofibromatosis Type 1 ◽  
Neurofibromatosis Type ◽  
Mri Findings ◽  
A Prospective Study

scholarly journals Quality of life in patients with neurofibromatosis type 1 and 2 in Canada

2020 ◽  
Vol 2 (Supplement_1) ◽  
pp. i141-i149
Author(s):  
Geohana Hamoy-Jimenez ◽  
Raymond Kim ◽  
Suganth Suppiah ◽  
Gelareh Zadeh ◽  
Vera Bril ◽  
...  
Keyword(s):  
Quality Of Life ◽  
Neurofibromatosis Type 1 ◽  
Physical Appearance ◽  
Well Being ◽  
Neurofibromatosis Type ◽  
Pain Interference ◽  
Sf 36 ◽  
Tertiary Center

Abstract Background There is scarce data on the quality of life of people with neurofibromatosis type 1 (NF1) and type 2 (NF2) in Canada. Methods A cross-sectional study of adults with NF1 and NF2 attending a tertiary center. Patients completed generic measures (SF-36, EQ-5D-5L, and PROMIS pain interference) and disease-specific questionnaires (PedsQL NF1 module and the NFTI-QOL for NF2). We compared generic scores between NF1 and NF2 individuals and used regression models to assess factors associated with quality of life. Results Hundred and eighty-four participants were enrolled. Mean age was 33 years in NF1 and 40 years in NF2. NF1 and NF2 individuals had lower employment rates and lower scores in all domains of the SF-36 compared to the general Canadian population (P < .005). Using the EQ-5D-5L, there was a high proportion of pain (64% in NF1 and 74% in NF2) and anxiety/depression (60% in NF1 and 68% in NF2). Pain interference correlated with poor quality of life in NF1 and NF2; perceived physical appearance was the main predictor of mental well-being in NF1. Conclusions Individuals with NF1 and NF2 have low quality of life, and this correlates with pain, anxiety, and depression, which are prevalent in NF1 and NF2. Perceived physical appearance predicts quality of life in NF1. A multidisciplinary approach is necessary for patients with NF1 and NF2, including mental health and pain management.

Outcomes of systematic screening for optic pathway tumors in children with Neurofibromatosis Type 1

2004 ◽  
Vol 127A (3) ◽  
pp. 224-229 ◽  
Author(s):  
M.A. Blazo ◽  
R.A. Lewis ◽  
M.M. Chintagumpala ◽  
M. Frazier ◽  
C. McCluggage ◽  
...  
Keyword(s):  
Neurofibromatosis Type 1 ◽  
Neurofibromatosis Type ◽  
Optic Pathway ◽  
Systematic Screening

Genetic Testing in Pheochromocytoma or Functional Paraganglioma

2005 ◽  
Vol 23 (34) ◽  
pp. 8812-8818 ◽  
Author(s):  
Laurence Amar ◽  
Jérôme Bertherat ◽  
Eric Baudin ◽  
Christiane Ajzenberg ◽  
Brigitte Bressac-de Paillerets ◽  
...  
Keyword(s):  
Genetic Testing ◽  
Neurofibromatosis Type 1 ◽  
Neurofibromatosis Type ◽  
Susceptibility Genes ◽  
Adrenal Tumors ◽  
Inherited Disease ◽  
Clinical Value ◽  
Sdhb Mutation ◽  
Systematic Screening

Purpose To assess the yield and the clinical value of systematic screening of susceptibility genes for patients with pheochromocytoma (pheo) or functional paraganglioma (pgl). Patients and Methods We studied 314 patients with a pheo or a functional pgl, including 56 patients having a family history and/or a syndromic presentation and 258 patients having an apparently sporadic presentation. Clinical data and blood samples were collected, and all five major pheo-pgl susceptibility genes (RET, VHL, SDHB, SDHD, and SDHC) were screened. Neurofibromatosis type 1 was diagnosed from phenotypic criteria. Results We have identified 86 patients (27.4%) with a hereditary tumor. Among the 56 patients with a family/syndromic presentation, 13 have had neurofibromatosis type 1, and germline mutations on the VHL, RET, SDHD, and SDHB genes were present in 16, 15, nine, and three patients, respectively. Among the 258 patients with an apparently sporadic presentation, 30 (11.6%) had a germline mutation (18 patients on SDHB, nine patients on VHL, two patients on SDHD, and one patient on RET). Mutation carriers were younger and more frequently had bilateral or extra-adrenal tumors. In patients with an SDHB mutation, the tumors were larger, more frequently extra-adrenal, and malignant. Conclusion Genetic testing oriented by family/sporadic presentation should be proposed to all patients with pheo or functional pgl. We suggest an algorithm that would allow the confirmation of suspected inherited disease as well as the diagnosis of unexpected inherited disease.

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