Correlation of chromosome abnormalities with presence or absence of WT1 deletions/mutations in Wilms tumor

✍ Scribed by Hisaya Nakadate; Takashi Tsuchiya; Nobuo Maseki; Yoshiro Hatae; Yukiko Tsunematsu; Yasuo Horikoshi; Yasushi Ishida; Atsushi Kikuta; Haruhiko Eguchi; Mikiya Endo; Munenori Miyake; Minoru Sakurai; Yasuhiko Kaneko

• Publisher: John Wiley and Sons
• Year: 1999
• Tongue: English
• Weight: 218 KB
• Volume: 25
• Category: Article
• ISSN: 1045-2257
• DOI: 10.1002/(sici)1098-2264(199905)25:1<26::aid-gcc4>3.0.co;2-z

✦ Synopsis

Of 40 Wilms tumors with chromosome abnormalities, 6 were hypodiploid, 10 were pseudodiploid, 7 were hyperdiploid with 47 to 49 chromosomes, and 17 were hyperdiploid with 50 or more chromosomes, mostly including ϩ12. WT1 deletions/ mutations were found in one hypodiploid, eight pseudodiploid, and one hyperdiploid (47-49 chromosomes) tumor, but in none of the hyperdiploid (Ն50 chromosomes) tumors. Of the 10 tumors with WT1 abnormalities, 6 had a homozygous WT1 deletion, 1 had a nonsense WT1 mutation and loss of heterozygosity at 11p, 1 had an intragenic hemizygous WT1 deletion without detectable WT1 mutation, and 2, which occurred in Wilms tumor-aniridia-genitourinary abnormalities-mental retardation syndrome patients, had a hemizygous deletion and a missense or frameshift mutation of WT1. Six of the nine tumors with homozygous or hemizygous WT1 deletions had chromosome aberrations involving chromosome band 11p13 in one of the two chromosomes 11. While one hypodiploid and one pseudodiploid patient died of the disease, and one hyperdiploid (47-49 chromosomes) patient was alive in nonremission, all hyperdiploid (Ն50 chromosomes) patients had no evidence of disease at the last follow-up. Our data show that chromosome aberrations are closely correlated to WT1 abnormalities and suggest that hyperdiploid (Ն50 chromosomes) Wilms tumors may be characterized by the absence of WT1 abnormalities and possibly also by a favorable prognosis.