» Articles » PMID: 31551924

Isolated Pheochromocytoma in a 73-Year-Old Man With No Clinical Manifestations of Type 1 Neurofibromatosis Carrying an Unsuspected Deletion of the Entire Gene

Overview
Specialty Endocrinology
Date 2019 Sep 26
PMID 31551924
Citations 4
Authors
Affiliations
Soon will be listed here.
Abstract

Pheochromocytomas (PHEOs) are a rare cause of endocrine hypertension that requires genetic counseling since at least 30% of PHEOs are associated with a germline mutation in a susceptibility gene. Neurofibromatosis type 1, is amongst the 16 known causing genes for pheochromocytomas/paragangliomas. We report a case of a 73-year-old man with PHEO in whom genetic testing revealed a large pathogenic heterozygous deletion of 1.14 Mb encompassing the entire coding sequence of the gene while the patient showed no signs of clinical NF1.This case illustrates that the diagnosis of NF1 should not be excluded in patients with PHEO in the absence of clinical diagnosis of the disease and support that older patients with PHEO should also be offered genetic counseling.

Citing Articles

Co-occurrence of mutations in and other susceptibility genes in pheochromocytoma and paraganglioma.

Mellid S, Gil E, Leton R, Caleiras E, Honrado E, Richter S Front Endocrinol (Lausanne). 2023; 13:1070074.

PMID: 36760809 PMC: 9905101. DOI: 10.3389/fendo.2022.1070074.


Atypical Microdeletions: Challenges and Opportunities for Genotype/Phenotype Correlations in Patients with Large Deletions.

Kehrer-Sawatzki H, Wahllander U, Cooper D, Mautner V Genes (Basel). 2021; 12(10).

PMID: 34681033 PMC: 8535936. DOI: 10.3390/genes12101639.


Classification of NF1 microdeletions and its importance for establishing genotype/phenotype correlations in patients with NF1 microdeletions.

Kehrer-Sawatzki H, Cooper D Hum Genet. 2021; 140(12):1635-1649.

PMID: 34535841 PMC: 8553723. DOI: 10.1007/s00439-021-02363-3.


Cost-minimization analysis of sequential genetic testing versus targeted next-generation sequencing gene panels in patients with pheochromocytoma and paraganglioma.

Pipitprapat W, Pattanaprateep O, Iemwimangsa N, Sensorn I, Panthan B, Jiaranai P Ann Med. 2021; 53(1):1244-1256.

PMID: 34309460 PMC: 8317928. DOI: 10.1080/07853890.2021.1956687.

References
1.
Ariton M, Juan C, AvRuskin T . Pheochromocytoma: clinical observations from a Brooklyn tertiary hospital. Endocr Pract. 2001; 6(3):249-52. DOI: 10.4158/EP.6.3.249. View

2.
Ferner R, Huson S, Thomas N, Moss C, Willshaw H, Evans D . Guidelines for the diagnosis and management of individuals with neurofibromatosis 1. J Med Genet. 2006; 44(2):81-8. PMC: 2598063. DOI: 10.1136/jmg.2006.045906. View

3.
Evans D, Howard E, Giblin C, Clancy T, Spencer H, Huson S . Birth incidence and prevalence of tumor-prone syndromes: estimates from a UK family genetic register service. Am J Med Genet A. 2010; 152A(2):327-32. DOI: 10.1002/ajmg.a.33139. View

4.
Lenders J, Duh Q, Eisenhofer G, Gimenez-Roqueplo A, Grebe S, Murad M . Pheochromocytoma and paraganglioma: an endocrine society clinical practice guideline. J Clin Endocrinol Metab. 2014; 99(6):1915-42. DOI: 10.1210/jc.2014-1498. View

5.
Gruber L, Erickson D, Babovic-Vuksanovic D, Thompson G, Young Jr W, Bancos I . Pheochromocytoma and paraganglioma in patients with neurofibromatosis type 1. Clin Endocrinol (Oxf). 2016; 86(1):141-149. DOI: 10.1111/cen.13163. View