{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,1,21]],"date-time":"2026-01-21T07:00:32Z","timestamp":1768978832756,"version":"3.49.0"},"reference-count":37,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2002,1,23]],"date-time":"2002-01-23T00:00:00Z","timestamp":1011744000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Genes Chromosomes &amp; Cancer"],"published-print":{"date-parts":[[2002,5]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>The <jats:italic>hSNF5\/INI1<\/jats:italic> gene, which encodes a subunit of the SWI\/SNF family of chromatin\u2010remodeling complexes and is located at 22q11.2, has been reported as a tumor suppressor gene inactivated in malignant rhabdoid tumors (MRTs). We analyzed this gene in varieties of pediatric solid tumors including MRTs, using the reverse transcription\u2010polymerase chain reaction (PCR) and PCR\u2010single strand conformation polymorphism method. We found 5 homozygous deletions, 2 truncated mutations, one missense mutation, and one silent mutation of the <jats:italic>hSNF5\/INI1<\/jats:italic> gene in 7 MRT cell lines, and one homozygous deletion, one microdeletion, one splicing acceptor site mutation, and one absence of expression in 7 fresh tumor tissues of MRT and atypical teratoid (AT)\/rhabdoid tumors (RTs). Homozygous deletions were also found in one (KYM\u20101) of 8 rhabdomyosarcoma (RMS) cell lines. To investigate characteristics of the KYM\u20101 cell line, we have established KYM\u20101 tumors in nude mice into which KYM\u20101 cells were transplanted. Notably, we found that <jats:italic>MyoD1,<\/jats:italic> known as a marker for RMS, was not expressed in the KYM\u20101 cell line as well as MRT cell lines and fresh tumors. Histopathologic, cytogenetic, and molecular studies of the KYM\u20101 cell line and KYM\u20101 tumors in nude mice have revealed that this RMS cell line should be MRT rather than RMS. RMS\u2010carrying aberrations of the <jats:italic>hSNF5\/INI1<\/jats:italic> gene should be reevaluated. No aberrations of this gene were found in the other 34 cell lines or 80 fresh tumor specimens except the single nucleotide polymorphisms in the 3\u2032 noncoding region. These results suggest that alterations of the <jats:italic>hSNF5\/INI1<\/jats:italic> gene were restricted to MRTs or AT\/RTs in pediatric solid tumors. \u00a9 2002 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/gcc.10052","type":"journal-article","created":{"date-parts":[[2002,8,25]],"date-time":"2002-08-25T23:13:41Z","timestamp":1030317221000},"page":"33-41","source":"Crossref","is-referenced-by-count":69,"title":["Aberrations of the <i>hSNF5\/INI1<\/i> gene are restricted to malignant rhabdoid tumors or atypical teratoid\/rhabdoid tumors in pediatric solid tumors"],"prefix":"10.1002","volume":"34","author":[{"given":"Kaoru","family":"Uno","sequence":"first","affiliation":[]},{"given":"Junko","family":"Takita","sequence":"additional","affiliation":[]},{"given":"Kinji","family":"Yokomori","sequence":"additional","affiliation":[]},{"given":"Yukichi","family":"Tanaka","sequence":"additional","affiliation":[]},{"given":"Shigeru","family":"Ohta","sequence":"additional","affiliation":[]},{"given":"Hiroyuki","family":"Shimada","sequence":"additional","affiliation":[]},{"given":"Floyd H.","family":"Gilles","sequence":"additional","affiliation":[]},{"given":"Kanji","family":"Sugita","sequence":"additional","affiliation":[]},{"given":"Satoshi","family":"Abe","sequence":"additional","affiliation":[]},{"given":"Masahiro","family":"Sako","sequence":"additional","affiliation":[]},{"given":"Kohei","family":"Hashizume","sequence":"additional","affiliation":[]},{"given":"Yasuhide","family":"Hayashi","sequence":"additional","affiliation":[]}],"member":"311","published-online":{"date-parts":[[2002,1,23]]},"reference":[{"key":"e_1_2_6_2_1","doi-asserted-by":"publisher","DOI":"10.1002\/1097-0142(197805)41:5<1937::AID-CNCR2820410538>3.0.CO;2-U"},{"key":"e_1_2_6_3_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1098-2264(199606)16:2<94::AID-GCC3>3.0.CO;2-Y"},{"key":"e_1_2_6_4_1","first-page":"74","article-title":"Germ\u2010line and acquired mutations of INI1 in atypical teratoid and rhabdoid tumors","volume":"59","author":"Biegel JA","year":"1999","journal-title":"Cancer 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