title: Molecular genetic alterations and gene expression profile of a malignant rhabdoid tumor of the kidney.
abstract: Malignant rhabdoid tumor of the kidney (MRTK) is a rare but highly aggressive tumor in children, and knowledge about the molecular signature of this tumor is limited. We report the molecular genetic alterations and gene expression profile of an MRTK tumor that arose in a 4-month-old Japanese girl. Fluorescence in situ hybridization and Southern blot analyses revealed a homozygous deletion of an approximately 0.29-Mb genomic region bordered by the Rgr and DDT genes in these tumor cells. This deleted region encodes SMARCB1, a candidate tumor suppressor gene for MRTK. Using a high-density oligonucleotide DNA array, we found increased expression of 25 genes, including genes involved in the cell cycle (10 genes), DNA replication (3 genes), cell growth (5 genes), and cell proliferation (5 genes), in this MRTK tumor sample, compared with a noncancerous kidney (NK) sample. On the other hand, 64 genes, including 4 genes regulating apoptosis, were found to show decreased expression in this MRTK tumor sample, compared with the NK sample. Among these alterations, we found alterations of expression of some genes, such as IGF2, MDK, TP53, and TNFSF10, in this MRTK tumor, as described previously. The molecular genetic alterations and altered pattern of gene expression found in this case may have contributed to the biological characteristics of the MRTK tumor that arose in our patient.
authors.affiliation: Department of Advanced Medicine, Nihon University, School of Medicine, 30-1, Oyaguchikami-cho, Itabashi-ku, Tokyo 173-8610, Japan. tnagata@med.nihon-u.ac.jp
authors.forename: Toshihito
authors.initials: T
authors.lastname: Nagata
authors.forename: Yasuo
authors.initials: Y
authors.lastname: Takahashi
authors.forename: Yukimoto
authors.initials: Y
authors.lastname: Ishii
authors.forename: Satoshi
authors.initials: S
authors.lastname: Asai
authors.forename: Megumi
authors.initials: M
authors.lastname: Sugahara-Kobayashi
authors.forename: Yayoi
authors.initials: Y
authors.lastname: Nishida
authors.forename: Akiko
authors.initials: A
authors.lastname: Murata
authors.forename: Shunji
authors.initials: S
authors.lastname: Yamamori
authors.forename: Yoshiyasu
authors.initials: Y
authors.lastname: Ogawa
authors.forename: Takeshi
authors.initials: T
authors.lastname: Nakamura
authors.forename: Hitohiko
authors.initials: H
authors.lastname: Murakami
authors.forename: Masanori
authors.initials: M
authors.lastname: Nakamura
authors.forename: Hiroyuki
authors.initials: H
authors.lastname: Shichino
authors.forename: Motoaki
authors.initials: M
authors.lastname: Chin
authors.forename: Kiminobu
authors.initials: K
authors.lastname: Sugito
authors.forename: Taro
authors.initials: T
authors.lastname: Ikeda
authors.forename: Tsugumichi
authors.initials: T
authors.lastname: Koshinaga
authors.forename: Hideo
authors.initials: H
authors.lastname: Mugishima
mesh_terms: D017209:Apoptosis / Q000235:genetics; D015139:Blotting, Southern; D002455:Cell Division / Q000235:genetics; D049109:Cell Proliferation; D002869:Chromosome Aberrations; D002892:Chromosomes, Human, Pair 22; D004261:DNA Replication / Q000235:genetics; D005260:Female; D020869:Gene Expression Profiling; D018816:Genes, cdc; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007223:Infant; D007680:Kidney Neoplasms / Q000235:genetics*; D020411:Oligonucleotide Array Sequence Analysis; D018335:Rhabdoid Tumor / Q000235:genetics*