Multifocal microcysts and papillary cystadenoma of the lung in von Hippel-Lindau disease.
von Hippel-Lindau disease is an autosomal dominant inherited disorder characterized by a predisposition to multiple neoplasms. Renal cell carcinoma and hemangioblastomas of the retina and cerebellum are the most common of these, but other neoplasms and cysts also occur throughout the body. We report a distinctive, yet never described lung lesion in a 43-year-old woman with von Hippel-Lindau disease. Molecular genetic studies confirmed the presence of a VHL gene mutation in the cells of this lesion. We discuss the salient features of this novel lesion, and hypothesize on its origin and nature.
Klein
Julianne
J
St Boniface General Hospital, Winnipeg, Manitoba, Canada. jklein@sbgh.mb.ca
Zhuang
Zhengping
Z
Lubensky
Irina
I
Colby
Thomas V
TV
Martinez
Felix
F
Leslie
Kevin O
KO
D000328:Adult; D014408:Biomarkers, Tumor / Q000032:analysis; D018292:Cystadenoma, Papillary / Q000737:chemistry / Q000235:genetics / Q000473:pathology* / Q000601:surgery; D003560:Cysts / Q000235:genetics / Q000473:pathology*; D004252:DNA Mutational Analysis; D005260:Female; D017353:Gene Deletion; D006801:Humans; D008175:Lung Neoplasms / Q000737:chemistry / Q000235:genetics / Q000473:pathology* / Q000601:surgery; D013902:Radiography, Thoracic; D014057:Tomography, X-Ray Computed; D051794:Von Hippel-Lindau Tumor Suppressor Protein / Q000235:genetics; D006623:von Hippel-Lindau Disease / Q000235:genetics / Q000473:pathology*
D014408:Biomarkers, Tumor; D051794:Von Hippel-Lindau Tumor Suppressor Protein; C497446:VHL protein, human