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.jpg): Failed to open stream: No such file or directory in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 117 PLoS+One
2016 ; 11
(3
): e0151476
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Pulmonary Neoplasms in Patients with Birt-Hogg-Dubé Syndrome: Histopathological
Features and Genetic and Somatic Events
#MMPMID26974543
Furuya M
; Tanaka R
; Okudela K
; Nakamura S
; Yoshioka H
; Tsuzuki T
; Shibuya R
; Yatera K
; Shirasaki H
; Sudo Y
; Kimura N
; Yamada K
; Uematsu S
; Kunimura T
; Kato I
; Nakatani Y
PLoS One
2016[]; 11
(3
): e0151476
PMID26974543
show ga
Birt-Hogg-Dubé syndrome (BHD) is an inherited disorder caused by genetic
mutations in the folliculin (FLCN) gene. Individuals with BHD have multiple
pulmonary cysts and are at a high risk for developing renal cell carcinomas
(RCCs). Currently, little information is available about whether pulmonary cysts
are absolutely benign or if the lungs are at an increased risk for developing
neoplasms. Herein, we describe 14 pulmonary neoplastic lesions in 7 patients with
BHD. All patients were confirmed to have germline FLCN mutations. Neoplasm
histologies included adenocarcinoma in situ (n = 2), minimally invasive
adenocarcinoma (n = 1), papillary adenocarcinoma (n = 1), micropapillary
adenocarcinoma (n = 1), atypical adenomatous hyperplasia (n = 8), and
micronodular pneumocyte hyperplasia (MPH)-like lesion (n = 1). Five of the six
adenocarcinoma/MPH-like lesions (83.3%) demonstrated a loss of heterozygosity
(LOH) of FLCN. All of these lesions lacked mutant alleles and preserved wild-type
alleles. Three invasive adenocarcinomas possessed additional somatic events: 2
had a somatic mutation in the epidermal growth factor receptor gene (EGFR) and
another had a somatic mutation in KRAS. Immunohistochemical analysis revealed
that most of the lesions were immunostained for phospho-mammalian target of
rapamycin (p-mTOR) and phospho-S6. Collective data indicated that pulmonary
neoplasms of peripheral adenocarcinomatous lineage in BHD patients frequently
exhibit LOH of FLCN with mTOR pathway signaling. Additional driver gene mutations
were detected only in invasive cases, suggesting that FLCN LOH may be an
underlying abnormality that cooperates with major driver gene mutations in the
progression of pulmonary adenocarcinomas in BHD patients.