𝔖 Bobbio Scriptorium
✦   LIBER   ✦

Congenital anomalies and rhabdoid tumor associated with 22q11 germline deletion and somatic inactivation of the SMARCB1 tumor suppressor

✍ Scribed by George Toth; Claudia B. Zraly; Tricia L. Thomson; Carolyn Jones; Shawn Lapetino; Jonathan Muraskas; Jiwang Zhang; Andrew K. Dingwall

Book ID
102843323
Publisher
John Wiley and Sons
Year
2011
Tongue
English
Weight
804 KB
Volume
50
Category
Article
ISSN
1045-2257

No coin nor oath required. For personal study only.

✦ Synopsis

Abstract

The most common microdeletion in humans involves the 22q11 region. Congenital anomalies associated with 22q11 loss include cardiac and facial defects. Less frequent is the co‐presentation of malignant rhabdoid tumors that are highly aggressive childhood malignancies typically found in renal or extra‐renal soft tissues and central nervous system. A newborn patient presented with multiple congenital anomalies consistent with 22q11 deletion syndrome including cleft lip and palate, ear tags and ventricular septal defects co‐presenting with an axillary rhabdoid tumor. Comparative genomic hybridization revealed a 2.8 Mb germline deletion in the 22q11.2 region containing genes required for normal fetal development and the SMARCB1 tumor suppressor gene. Analysis of tumor DNA revealed a somatic deletion of exon 7 in the second allele of SMARCB1. Expression of SMARCB1 was absent, while tumor markers including MYC, GFAP, and CLAUDIN‐6 were upregulated. The presence of tandem oriented BCRL modules located within interspersed low copy repeat elements throughout the 22q11 distal region may predispose this area for microdeletions through nonalleleic homologous recombination. © 2011 Wiley‐Liss, Inc.

📜 SIMILAR VOLUMES

Novel germ-line deletion of SNF5/INI1/SM
Novel germ-line deletion of SNF5/INI1/SMARCB1 gene in neonate presenting with congenital malignant rhabdoid tumor of kidney and brain primitive neuroectodermal tumor
✍ Takeshi Kusafuka; Jiangyong Miao; Akihiro Yoneda; Seika Kuroda; Masahiro Fukuzaw 📂 Article 📅 2004 🏛 John Wiley and Sons 🌐 English ⚖ 157 KB

## Abstract We describe a neonate who had a rare tumor combination of a malignant rhabdoid tumor of the kidney (MRTK) and a brain primitive neuroectodermal tumor (PNET). Genetic alterations of the __SNF5/INI1/SMARCB1__ gene were investigated by PCR–single‐strand conformation polymorphism (SSCP), lo

Cytogenetic and molecular analysis of a
Cytogenetic and molecular analysis of a t(1;22)(p36;q11.2) in a rhabdoid tumor with a putative homozygous deletion of chromosome 22
✍ Christophe Rosty; Martine Peter; Jessica Zucman; Pierre Validire; Olivier Delatt 📂 Article 📅 1998 🏛 John Wiley and Sons 🌐 English ⚖ 281 KB 👁 2 views

Malignant rhabdoid tumors are rare and aggressive neoplasms of childhood, occurring in the kidney or in various extrarenal locations. Most cytogenetic studies of these tumors have shown the frequent involvement of chromosome 22, including translocations and/or deletions, with a critical region for a