Should genetic testing be performed in each patient with sporadic pheochromocytoma at presentation?
BACKGROUND
According to previous studies, around 15% of patients with an apparently sporadic pheochromocytoma and a negative family history had a hereditary disease. This high frequency together with the financial support provided to reference laboratories of molecular genetics by the French government led to a nearly systematic screening in each patient with a pheochromocytoma.


OBJECTIVE
To check the efficiency of systematic genetic screening in patients with apparently sporadic pheochromocytoma, by analysing the 6 years experience of a multidisciplinary team in this field.


METHODS
One hundred patients with a pheochromocytoma-only phenotype and no family history were included. Patients with extra-adrenal tumours were excluded. Prevalence of hereditary forms was determined and analyzed according to age at onset, sex. Cost of the genetic analysis was calculated.


RESULTS
A germline mutation in one of the five susceptibility genes (VHL, RET, SDHD, SDHC, SDHB) was identified in eight patients (8%) with an age of onset between 13 and 57 years. Among them, six had a bilateral pheochromocytoma and only two had a unilateral tumour. If the guidelines for genetic screening were age of onset less than 50 or bilateral pheochromocytoma, no patients with a hereditary tumour would be missed and a 24% cost reduction would be achieved.


CONCLUSIONS
According to these data, a genetic predisposition test for hereditary pheochromocytoma seems not recommended in patients with a unilateral adrenal tumour diagnosed after 50 in the absence of familial, clinical, biological or imaging features for a familial disease.
Pigny
Pascal
P
Laboratoire de Biochimie Hormonologie, Métabolisme-Nutrition, Oncologie, Centre de Biologie et Pathologie, CHRU de Lille, France. p-pigny@chru-lille.fr
Cardot-Bauters
Catherine
C
Do Cao
Christine
C
Vantyghem
Marie Christine
MC
Carnaille
Bruno
B
Pattou
François
F
Caron
Philippe
P
Wemeau
Jean-Louis
JL
Porchet
Nicole
N
D000293:Adolescent; D000310:Adrenal Gland Neoplasms / Q000453:epidemiology / Q000235:genetics*; D000328:Adult; D017668:Age of Onset; D003362:Cost-Benefit Analysis; D005192:Family Health; D005260:Female; D020022:Genetic Predisposition to Disease / Q000453:epidemiology; D005820:Genetic Testing / Q000191:economics*; D018095:Germ-Line Mutation; D006801:Humans; D008297:Male; D008875:Middle Aged; D010641:Phenotype; D010673:Pheochromocytoma / Q000453:epidemiology / Q000235:genetics*; D015995:Prevalence; D055815:Young Adult