Molecular and Genomic Profiling to Identify Actionable Targets in Chromophobe Renal Cell Cancer

被引：5

作者：

Abbosh, Philip ^{[1
]}

Sundararajan, Srinath ^{[2
]}

Millis, Sherri Z. ^{[3
]}

Hauben, Adam ^{[3
]}

Reddy, Sandeep ^{[3
]}

Geynisman, Daniel M. ^{[4
]}

Uzzo, Robert ^{[1
]}

机构：

[1] Fox Chase Canc Ctr, Dept Surg Oncol, Div Urol Oncol, 7701 Burholme Ave, Philadelphia, PA 19111 USA

[2] Univ Arizona, Dept Med, Div Hematol & Oncol, 1515 N Campbell Ave, Tucson, AZ 85715 USA

[3] Caris Life Sci, Phoenix, AZ USA

[4] Fox Chase Canc Ctr, Dept Med Oncol, 7701 Burholme Ave, Philadelphia, PA 19111 USA

来源：

EUROPEAN UROLOGY FOCUS | 2018年 / 4卷 / 06期

关键词：

Chromophobe renal carcinoma; Genetics; Molecular profiling; Chemotherapy; CARCINOMA; SUNITINIB;

D O I：

10.1016/j.euf.2017.01.003

中图分类号：

R5 [内科学]; R69 [泌尿科学（泌尿生殖系疾病）];

学科分类号：

1002 ; 100201 ;

摘要：

Metastatic chromophobe renal cell cancer (chRCC) is a rare subtype of RCC with no standard treatment. We performed molecular profiling of 12 chRCC cases to identify alterations predictive of response to therapy. Tests included immunohistochemistry assays, fluorescence in situ hybridization, and next-generation sequencing. Analysis identified c-KIT overexpression in 6/9 (67%) samples analyzed, and loss of protein expression of RRM1 and MGMT in 11/12 (92%) and of PTEN in 7/12 samples (58%). Mutations of TP53, PTEN, APC, and VHL genes were identified. In summary, molecular profiling of chRCC identified alterations in genes and protein expression that might provide a mechanistic rationale for off-label use of approved therapies in advanced chRCC, and could guide the design of molecularly targeted clinical trials. Patient summary: In this study, we evaluated samples of a rare type of kidney cancer (chromophobe type) and identified potential genetic markers that could be used to individualize treatment and possibly improve treatment outcomes. (C) 2017 European Association of Urology. Published by Elsevier B.V. All rights reserved.

引用

页码：969 / 971

页数：3

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