Are lung cysts in renal cell cancer (RCC) patients an indication for FLCN mutation analysis?
Fam Cancer
; 15(2): 297-300, 2016 Apr.
Article
en En
| MEDLINE
| ID: mdl-26603437
ABSTRACT
Renal cell cancer (RCC) represents 2-3% of all cancers and is the most lethal of the urologic malignancies, in a minority of cases caused by a genetic predisposition. Birt-Hogg-Dubé syndrome (BHD) is one of the hereditary renal cancer syndromes. As the histological subtype and clinical presentation in BHD are highly variable, this syndrome is easily missed. Lung cysts--mainly under the main carina--are reported to be present in over 90% of all BHD patients and might be an important clue in differentiating between sporadic RCC and BHD associated RCC. We conducted a retrospective study among patients diagnosed with sporadic RCC, wherein we retrospectively scored for the presence of lung cysts on thoracic CT. We performed FLCN mutation analysis in 8 RCC patients with at least one lung cysts under the carina. No mutations were identified. We compared the radiological findings in the FLCN negative patients to those in 4 known BHD patients and found multiple basal lung cysts were present significantly more frequent in FLCN mutation carriers and may be an indication for BHD syndrome in apparent sporadic RCC patients.
Palabras clave
Texto completo:
1
Colección:
01-internacional
Asunto principal:
Carcinoma de Células Renales
/
Proteínas Proto-Oncogénicas
/
Quistes
/
Proteínas Supresoras de Tumor
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Síndrome de Birt-Hogg-Dubé
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Neoplasias Renales
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Pulmón
Tipo de estudio:
Observational_studies
/
Prognostic_studies
/
Risk_factors_studies
Límite:
Humans
Idioma:
En
Revista:
Fam Cancer
Asunto de la revista:
NEOPLASIAS
Año:
2016
Tipo del documento:
Article
País de afiliación:
Países Bajos