LMO2 gene deletions significantly worsen the prognosis of Wilms' tumor development in patients with WAGR syndrome

被引：16

作者：

Marakhonov, Andrey, V ^{[1
,2
]}

Vasilyeva, Tatyana A. ^{[1
]}

Voskresenskaya, Anna A. ^{[3
]}

Sukhanova, Natella, V ^{[4
]}

Kadyshev, Vitaly V. ^{[1
]}

Kutsev, Sergey, I ^{[1
,5
]}

Zinchenko, Rena A. ^{[1
,5
]}

机构：

[1] Res Ctr Med Genet, Moscow 115522, Russia

[2] Far Eastern Fed Univ, Vladivostok 690090, Russia

[3] S Fyodorov Eye Microsurg Fed State Inst, Cheboksary Branch, Cheboksary 428028, Russia

[4] Natl Med Res Ctr Childrens Hlth, Moscow 119296, Russia

[5] Pirogov Russian Natl Res Med Univ, Moscow 117997, Russia

来源：

HUMAN MOLECULAR GENETICS | 2019年 / 28卷 / 19期

基金：

俄罗斯基础研究基金会;

关键词：

WT1; PAX6;

D O I：

10.1093/hmg/ddz168

中图分类号：

Q5 [生物化学]; Q7 [分子生物学];

学科分类号：

071010 ; 081704 ;

摘要：

WAGR syndrome (OMIM #194072) is a rare genetic disorder that consists of development of Wilms' tumor (nephroblastoma), aniridia, genitourinary anomalies and intellectual disability (mental retardation). It is associated with WAGR-region deletions in the 11p13 chromosome region. Our previous study of congenital aniridia patients revealed a noticeable number of aniridia patients with WAGR-region deletions but without Wilms' tumor in their medical history. We assessed the involvement of other neighboring genes from affected chromosome regions in the patients with and without Wilms' tumor. Reliable confidence was obtained for the LMO2 gene, which is significantly more often deleted in patients with nephroblastoma. Thus, our study presents genetic evidence that the development of Wilms tumors in WAGR syndrome patients should be attributed to the deletion of WT1 and LMO2 rather than WT1 only.

引用

页码：3323 / 3326

页数：4

共 15 条

[1] Wilms Tumor Chromatin Profiles Highlight Stem Cell Properties and a Renal Developmental Network [J].

Aiden, Aviva Presser ;

Rivera, Miguel N. ;

Rheinbay, Esther ;

Ku, Manching ;

Coffman, Erik J. ;

Truong, Thanh T. ;

Vargas, Sara O. ;

Lander, Eric S. ;

Haber, Daniel A. ;

Bernstein, Bradley E. .

CELL STEM CELL, 2010, 6 (06) :591-602

[2] Wilms Tumor Suppressor, WT1, Suppresses Epigenetic Silencing of the β-Catenin Gene [J].

Akpa, Murielle M. ;

Iglesias, Diana M. ;

Chu, Lee Lee ;

Cybulsky, Marta ;

Bravi, Cristina ;

Goodyer, Paul R. .

JOURNAL OF BIOLOGICAL CHEMISTRY, 2015, 290 (04) :2279-2288

[3] Association of brain-derived neurotrophic factor (BDNF) haploinsufficiency with lower adaptive behaviour and reduced cognitive functioning in WAGR/11p13 deletion syndrome [J].

Han, Joan C. ;

Thurm, Audrey ;

Williams, Christine Golden ;

Joseph, Lisa A. ;

Zein, Wadih M. ;

Brooks, Brian P. ;

Butman, John A. ;

Brady, Sheila M. ;

Fuhr, Shannon R. ;

Hicks, Melanie D. ;

Huey, Amanda E. ;

Hanish, Alyson E. ;

Danley, Kristen M. ;

Raygada, Margarita J. ;

Rennert, Owen M. ;

Martinowich, Keri ;

Sharp, Stephen J. ;

Tsao, Jack W. ;

Swedo, Susan E. .

CORTEX, 2013, 49 (10) :2700-2710

[4] Nuclear accumulation of β-catenin protein in Wilms' tumours [J].

Koesters, R ;

Niggli, F ;

Doeberitz, MV ;

Stallmach, T .

JOURNAL OF PATHOLOGY, 2003, 199 (01) :68-76

[5]

Liu Ye, 2018, Oncotarget, V9, P8911, DOI 10.18632/oncotarget.23542

[6] LMO2 attenuates tumor growth by targeting the Wnt signaling pathway in breast and colorectal cancer [J].

Liu, Ye ;

Huang, Di ;

Wang, Zhaoyang ;

Wu, Chao ;

Zhang, Zhao ;

Wang, Dan ;

Li, Zongjin ;

Zhu, Tianhui ;

Yang, Shuang ;

Sun, Wei .

SCIENTIFIC REPORTS, 2016, 6

[7] LIM-domain-only proteins in cancer [J].

Matthews, Jacqueline M. ;

Lester, Krystal ;

Joseph, Soumya ;

Curtis, David J. .

NATURE REVIEWS CANCER, 2013, 13 (02) :111-122

[8]

Rath A., 2019, ORPHANET REPORT SERI

[9] LMO2 is required for TAL1 DNA binding activity and initiation of definitive haematopoiesis at the haemangioblast stage [J].

Stanulovic, Vesna S. ;

Cauchy, Pierre ;

Assi, Salam A. ;

Hoogenkamp, Maarten .

NUCLEIC ACIDS RESEARCH, 2017, 45 (17) :9874-9888

[10] The development of Wilms tumor: From WT1 and microRNA to animal models [J].

Tian, Fang ;

Yourek, Gregory ;

Shi, Xiaolei ;

Yang, Yili .

BIOCHIMICA ET BIOPHYSICA ACTA-REVIEWS ON CANCER, 2014, 1846 (01) :180-187

← 1 2 →