ナガシマ ヨウジ   Nagashima, Yoji
  長嶋 洋治
   所属   医学部 医学科(東京女子医科大学病院)
   職種   教授
論文種別 原著
言語種別 英語
査読の有無 査読あり
表題 Fluorescence and chromogenic in situ hybridization of CEN17q may be useful for pathological diagnosis of chromophobe renal cell carcinomas associated with Birt-Hogg-Dubé syndrome.
掲載誌名 正式名:Human pathology
略  称:Hum Pathol
ISSNコード:00468177
掲載区分国外
巻・号・頁 S0046-8177(16),36-08頁
著者・共著者 Kato I, Iribe Y, Nagashima Y, Kuroda N, Tanaka R, Nakatani Y, Hasumi H, Yao M, Furuya M
発行年月 2016/03
概要 Birt-Hogg-Dubé syndrome (BHD) is a familial disorder associated with a germline
mutation of FLCN that is a tumor suppressor gene. Patients with BHD have high risks
for developing multiple renal cell carcinomas (RCCs). The frequent histological types
are hybrid oncocytic/chromophobe tumors (HOCTs) and chromophobe RCCs. The
morphology of HOCTs could alert pathologists to the possibility of BHD. On the other
hand, chromophobe RCCs occurring in BHD patients demonstrate positive
immunostaining for cytokeratin-7, CD82 and Ksp-cadherin similar to their sporadic
counterparts. Highly-reliable markers for BHD-associated chromophobe RCCs have not
been identified. In the present study, we analyzed the state of chromosome 17 in 18
renal tumors composed of 8 chromophobe RCCs, 7 HOCTs and 3 papillary RCCs
obtained from BHD patients using fluorescent and chromogenic in situ hybridization
(FISH/CISH) probes for the centromeric region of chromosome 17 long arm (CEN17q).
All chromophobe RCCs and HOCTs were disomic except for one chromophobe RCC
that showed monosomy. On the other hand, 12 of 14 sporadic chromophobe RCCs were
monosomic (p = 0.0008). The state of chromosomes 2 and 6 were also statistically
different (p = 0.0074 and p = 0.0007, respectively). Three BHD-associated papillary
RCCs demonstrated either trisomy (n = 2) or disomy (n = 1). Three of 5 sporadic
papillary RCCs showed trisomy. The results indicate that FISH/CISH of CEN17q
should be a potent useful marker for chromophobe RCCs in patients who have not been
diagnosed with BHD and thereby help to determine whether the cases should be
considered for genetic testing.
DOI 10.1016/j.humpath.2016.01.004