Risk assessment of maternally inherited SDHD paraganglioma and phaeochromocytoma.
J Med Genet
; 54(2): 125-133, 2017 02.
Article
en En
| MEDLINE
| ID: mdl-27856506
ABSTRACT
BACKGROUND:
Germline mutations in the SDHD tumour suppressor gene (11q23.1) predispose to phaeochromocytomas and paragangliomas (PPGL) mainly on a paternal transmission. However, PPGL have been recently reported in three carriers of a maternally inherited SDHD mutation.OBJECTIVE:
To assess the risk of PPGL occurrence on maternal transmission of SDHD mutation.METHODS:
Pedigrees of 80 SDHD-related families have been reviewed. 35 asymptomatic subjects carrying a maternally transmitted SDHD mutation were identified. 20 of them accepted to benefit from a PPGL imaging screening.RESULTS:
A unique histologically proven biochemically negative phaeochromocytoma has been diagnosed in a 35-year-old woman. Molecular investigations carried out on tumour tissue revealed that the loss of heterozygosity encompassed the paternally derived q arm and the maternally derived p arm of chromosome 11.CONCLUSIONS:
This study demonstrates that the risk of developing PPGL for a subject carrying a germline SDHD mutation on the maternal allele remains a rare scenario but does exist. Our data suggest an adjustment of current genetic counselling and clinical care recommendations for at-risk subjects. A targeted familial genetic test should be proposed from the age of 18â years to every subject having a mother carrying a germline SDHD mutation and a first medical workup, including imaging, should be recommended to SDHD-positive mutation carriers.Palabras clave
Texto completo:
1
Colección:
01-internacional
Banco de datos:
MEDLINE
Asunto principal:
Paraganglioma
/
Feocromocitoma
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Succinato Deshidrogenasa
/
Neoplasias de las Glándulas Suprarrenales
Tipo de estudio:
Etiology_studies
/
Guideline
/
Prognostic_studies
/
Risk_factors_studies
Límite:
Adolescent
/
Adult
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Female
/
Humans
Idioma:
En
Revista:
J Med Genet
Año:
2017
Tipo del documento:
Article
País de afiliación:
Francia