Clinical Presentation and Outcomes of Phaeochromocytomas/Paragangliomas in Neurofibromatosis Type 1

Al-Sharefi, Ahmed; Perros, Petros; Ealing, John; Truran, Peter; Nag, Sath; Kamaruddin, Shafie; Abouglila, Kamal; Cains, Fiona; Lewis, Lauren; James, Robert A.

doi:10.17925/ee.2019.15.2.95

Cited by 21 publications

(24 citation statements)

References 35 publications

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“…NF1-associated PPGL prevalence varies from 2.9 to 14.6%, with no clear genotype-phenotype association with PPGL risk (37)(38)(39)(40)(41)(42). Indeed, in NF1 patients diagnosed with PPGL, the mutational spectrum comprises both intragenic mutations and deletions, with mutations being preferentially located in the cysteine-rich region of the NF1 protein over the RAS-GAP domain (43).…”

Section: Nf1mentioning

confidence: 99%

Phakomatoses and Endocrine Gland Tumors: Noteworthy and (Not so) Rare Associations

Chevalier

Dupuis²,

Jannin

et al. 2021

Front. Endocrinol.

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Phakomatoses encompass a group of rare genetic diseases, such as von Hippel-Lindau syndrome (VHL), neurofibromatosis type 1 (NF1), tuberous sclerosis complex (TSC) and Cowden syndrome (CS). These disorders are due to molecular abnormalities on the RAS-PI3K-Akt-mTOR pathway for NF1, TSC and CS, and to hypoxia sensing for VHL. Phakomatoses share some phenotypic traits such as neurological, ophthalmological and cutaneous features. Patients with these diseases are also predisposed to developing multiple endocrine tissue tumors, e.g., pheochromocytomas/paragangliomas are frequent in VHL and NF1. All forms of phakomatoses except CS may be associated with digestive neuroendocrine tumors. More rarely, thyroid cancer and pituitary or parathyroid adenomas have been reported. These susceptibilities are noteworthy, because their occurrence rate, prognosis and management differ slightly from the sporadic forms. The aim of this review is to summarize current knowledge on endocrine glands tumors associated with VHL, NF1, TSC, and CS, especially neuroendocrine tumors and pheochromocytomas/paragangliomas. We particularly detail recent advances concerning prognosis and management, especially parenchyma-sparing surgery and medical targeted therapies such as mTOR, MEK and HIF-2 α inhibitors, which have shown truly encouraging results.

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Section: Nf1mentioning

confidence: 99%

Phakomatoses and Endocrine Gland Tumors: Noteworthy and (Not so) Rare Associations

Chevalier

Dupuis²,

Jannin

et al. 2021

Front. Endocrinol.

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“…In our series of collated data of metastatic PPGL in NF1, the median age was 46 years, median tumor size was 6 cm, 80% were unilateral, and 20% had PGL. On comparing the patient characteristics (age, gender, laterality, tumor size, and presence of PGL) of metastatic PPGL with reported cohorts of benign PPGL in NF1, greater PCC size and higher proportion of PGL was observed with metastatic PPGL in NF1, although not consistent across various cohorts (Supplementary Table 2) ( 39 , 40 , 41 ). Recent studies have suggested lowering the age of screening to 14 years and extending screening to asymptomatic individuals as compared to conventional guidelines ( 39 , 54 ).…”

Section: Discussionmentioning

confidence: 92%

“…We found nine cases of NF1 with metastatic PCC. The details of these cases, including one case from our center, are summarized in Table 4 ( 36 , 37 , 38 , 39 , 40 , 41 ).…”

Section: Resultsmentioning

confidence: 99%

Metastatic cluster 2-related pheochromocytoma/paraganglioma: a single-center experience and systematic review

Kumar¹,

Lila²,

Memon³

et al. 2021

Endocrine Connections

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Objective: Risk of metastatic disease in the cluster 2-related pheochromocytoma/paraganglioma (PPGL) is low. In MEN2 patients, identification of origin of metastases from pheochromocytoma (PCC) or medullary thyroid carcinoma (MTC) is challenging as both are of neuroendocrine origin. We aim to describe our experience and perform a systematic review to assess prevalence, demographics, biochemistry, diagnostic evaluation, management and predictors of cluster 2-related metastatic PPGL. Design: Retrospective study with systematic review of literature. Methods: Data of 3 cases from our cohort and 43 cases from world literature were analyzed. For calculation of prevalence, all reported patients (n=3063) of cluster 2 were included. Results: The risk of metastasis in cluster 2-related PPGL was 2.6% (2% in RET, 5% in NF1, 4.8% in TMEM127 and 16.7% in MAX variation). In metastatic PCC in MEN2, median age was 39 years, bilateral tumors were present in 71% and median tumor size was 9.7 cm (range 4-19) with 43.5% mortality. All patients had primary tumor size ≥4cm. Origin of primary was diagnosed by histopathology of metastatic lesion in 11(57.9%), 131I-MIBG scan in 6(31.6%), and selective venous sampling and computed tomography in one (5.3%) each. In subgroup of NF1, median age was 46 years (range 14-59) with median tumor size 6cm and 57% mortality. Conclusion: The risk of metastatic disease in cluster 2-related PPGL is 2.6%, being especially high in tumors with size ≥4cm and is associated with high mortality. One-third patients of NF1 with metastatic PPGL had presented in 2nd decade of life. Long-term studies are needed to formulate management recommendations.

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“…Most of these are life-threatening cardiovascular complications that result from PHEO crisis triggered by tumour manipulation, pregnancy, drugs or metastatic disease. 11,27,30,[32][33][34] Furthermore, patients with PHEO associated with NF1 have more intraoperative hypertension variability and perioperative complications than patients with other genetic syndromes. 35 As a preventive measure, authors highlight the important role of routine screening in the absence of hypertension or classical symptoms, particularly prior to elective surgeries, during preconception planning or early in pregnancy.…”

mentioning

confidence: 99%

“…35 As a preventive measure, authors highlight the important role of routine screening in the absence of hypertension or classical symptoms, particularly prior to elective surgeries, during preconception planning or early in pregnancy. 11,27,29,30,32,34 For biochemical diagnosis it is necessary to confirm the inappropriately elevated secretion of catecholamines and its metabolites through free plasma metanephrines or fractionated urinary metanephrines.…”

mentioning

confidence: 99%

Screening for Hereditary Pheochromocytoma in a Patient with Neurofibromatosis Type 1: A Case Report

Barros¹,

Manso²,

Silva³

et al. 2021

touchREVIEWS in Endocrinology

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Clinical Presentation and Outcomes of Phaeochromocytomas/Paragangliomas in Neurofibromatosis Type 1

Cited by 21 publications

References 35 publications

Phakomatoses and Endocrine Gland Tumors: Noteworthy and (Not so) Rare Associations

Phakomatoses and Endocrine Gland Tumors: Noteworthy and (Not so) Rare Associations

Metastatic cluster 2-related pheochromocytoma/paraganglioma: a single-center experience and systematic review

Screening for Hereditary Pheochromocytoma in a Patient with Neurofibromatosis Type 1: A Case Report

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