Atypical teratoid/rhabdoid tumor in a patient with Beckwith-Wiedemann syndrome

被引：4
作者：
Jackson, Eric M.
Shaikh, Tamim H.
Zhang, Fan
Wainwright, Luanne M.
Storm, Phillip B.
Hakonarson, Hakon
Zackai, Elaine H.
Biegel, Jaclyn A.
机构：
[1] Childrens Hosp Philadelphia, Div Human Genet, Philadelphia, PA 19104 USA
[2] Univ Penn, Sch Med, Dept Neurosurg, Philadelphia, PA 19104 USA
[3] Univ Penn, Sch Med, Dept Pediat, Philadelphia, PA 19104 USA
[4] Childrens Hosp Philadelphia, Div Neurosurg, Philadelphia, PA 19104 USA
来源：
AMERICAN JOURNAL OF MEDICAL GENETICS PART A | 2007年 / 143A卷 / 15期
关键词：
Beckwith-Wiedemann syndrome; rhabdoid tumor; INI1/bSNF5/SMARCB1/BAF47;
D O I：
10.1002/ajmg.a.31843
中图分类号：
Q3 [遗传学];
学科分类号：
071007 ; 090102 ;
摘要：
Beckwith-Wiedemann syndrome (BWS) is a genetic disorder associated with an increased risk of childhood tumors. Here we describe a patient with BWS who developed a central nervous system atypical teratoid/rhabdoid tumor (AT/RT). To our knowledge, despite the known cancer predisposition, this patient is the first described with BWS to develop an AT/RT. Due to the high propensity of these patients to develop childhood tumors, in addition to routine diagnostic tests, analysis of the tumor DNA using the Illumina Infinium whole-genome genotyping 550K Beadchip was performed to investigate a possible common underlying mechanism for his BWS and AT/RT. The only alteration detected was monosomy 22, which was accompanied by a somatic mutation in the INI1 rhabdoid tumor gene. These results suggest that, despite an underlying cancer predis-position, the occurrence of BWS and AT/RT in this patient may be unrelated. (c) 2007 Wiley-Liss, Inc.
引用
收藏
页码：1767 / 1770
页数：4
相关论文
共 30 条
[1]   Chromatin remodeling factor encoded by ini1 induces G1 arrest and apoptosis in ini1-deficient cells [J].
Ae, K ;
Kobayashi, N ;
Sakuma, R ;
Ogata, T ;
Kuroda, H ;
Kawaguchi, N ;
Shinomiya, K ;
Kitamura, Y .
ONCOGENE, 2002, 21 (20) :3112-3120
[2]   Re-expression of hSNF5/INI1/BAF47 in pediatric tumor cells leads to G1 arrest associated with induction of p16ink4a and activation of RB [J].
Betz, BL ;
Strobeck, MW ;
Reisman, DN ;
Knudsen, ES ;
Weissman, BE .
ONCOGENE, 2002, 21 (34) :5193-5203
[3]  
Biegel JA, 2002, CLIN CANCER RES, V8, P3461
[4]  
Biegel JA, 1999, CANCER RES, V59, P74
[5]   Increased tumour risk for BWS patients correlates with aberrant H19 and not KCNQ1OT1 methylation:: occurrence of KCNQ1OT1 hypomethylation in familial cases of BWS [J].
Bliek, J ;
Maas, SM ;
Ruijter, JM ;
Hennekam, RCM ;
Alders, M ;
Westerveld, A ;
Mannens, MMAM .
HUMAN MOLECULAR GENETICS, 2001, 10 (05) :467-476
[6]   Molecular subtypes and phenotypic expression of Beckwith-Wiedemann syndrome [J].
Cooper, WN ;
Luharia, A ;
Evans, GA ;
Raza, H ;
Haire, AC ;
Grundy, R ;
Bowdin, SC ;
Riccio, A ;
Sebastio, G ;
Bliek, J ;
Schofield, PN ;
Reik, W ;
Macdonald, F ;
Maher, ER .
EUROPEAN JOURNAL OF HUMAN GENETICS, 2005, 13 (09) :1025-1032
[7]   Epigenetic alterations of H19 and LIT1 distinguish patients with Beckwith-Wiedemann syndrome with cancer and birth defects [J].
DeBaun, MR ;
Niemitz, EL ;
McNeil, DE ;
Brandenburg, SA ;
Lee, MP ;
Feinberg, AP .
AMERICAN JOURNAL OF HUMAN GENETICS, 2002, 70 (03) :604-611
[8]   Atypical teratoid rhabdoid tumor in a child with neurofibromatosis 1 [J].
El Kababri, M ;
André, N ;
Carole, C ;
Gentet, JC ;
Lena, G ;
Figarella-Branger, D .
PEDIATRIC BLOOD & CANCER, 2006, 46 (02) :267-268
[9]   Epigenotype-phenotype correlations in Beckwith-Wiedemann syndrome [J].
Engel, JR ;
Smallwood, A ;
Harper, A ;
Higgins, MJ ;
Oshimura, M ;
Reik, O ;
Schofield, PN ;
Maher, ER .
JOURNAL OF MEDICAL GENETICS, 2000, 37 (12) :921-926
[10]   Analysis of the methylation status of the KCNQ1OT and H19 genes in leukocyte DNA for the diagnosis and prognosis of Beckwith-Wiedemann syndrome [J].
Gaston, V ;
Le Bouc, Y ;
Soupre, V ;
Burglen, L ;
Donadieu, J ;
Oro, H ;
Audry, G ;
Vazquez, MP ;
Gicquel, C .
EUROPEAN JOURNAL OF HUMAN GENETICS, 2001, 9 (06) :409-418
123