Molecular sublocalization and characterization of the 11; 22 translocation breakpoint in a malignant rhabdoid tumor

Journal Article · Tue Feb 01 04:00:00 EST 1994 · Genomics; (United States)

DOI:https://doi.org/10.1006/geno.1994.1091· OSTI ID:6443390

Newsham, I; Daub, D; Besnard-Guerin, C; Cavenee, W ^[1]

---

1. Univ. of California, San Diego, CA (United States)

Malignant rhabdoid tumors are extremely aggressive soft-tissue sarcomas that tend to be widely metastatic at diagnosis. These tumors were first described as variants of the kidney neoplasm Wilms' tumor, although tumors of similar clinicopathologic features have been cited in a variety of extrarenal sites. Here, the authors have characterized the chromosomal translocation t(11;22)(p15.5;q11.23) from a retroperitoneal rhabdoid tumor. Somatic cell hybrids with segregated copies of the derivative 11 and derivative 22 chromosomes allowed sublocalization of the chromosome 11 breakpoint to a 1- to 2-Mb region between the proximal marker D11S12 and the distal locus tyrosine hydroxylase (TH). Translocation-associated aberrant fragments were identified by pulsed-field gel electrophoresis, with the smallest resulting from BssHII digestion as detected with a probe for TH. These data indicate that the locus or loci disrupted by this genetic abnormality might lie less than 60 kb proximal to this marker and place it in the chromosomal vicinity of genes involved in the etiologies of rhabdomyosarcoma, Wilms' tumor, and the congenital overgrowth disorder, Beckwith-Wiedemann syndrome. Analysis of two other tumor-associated loci, EWS1 and NF2, that have been mapped to the general region of 22q11.2 indicated that they were not involved in this translocation breakpoint. Isolation of the genes present at this translocation junction on both chromosomes 11 and 22 may yield important clinicopathologic and genetic markers for this enigmatic tumor as well as other pediatric diseases. 45 refs., 3 figs.

• OSTI ID: 6443390
• Journal Information: Genomics; (United States), Journal Name: Genomics; (United States) Vol. 19:3; ISSN GNMCEP; ISSN 0888-7543
• Country of Publication: United States
• Language: English

Related Subjects

550400* -- Genetics
59 BASIC BIOLOGICAL SCIENCES
CHROMOSOMAL ABERRATIONS
CHROMOSOMES
DETECTION
DISEASES
ETIOLOGY
GENE MUTATIONS
HUMAN CHROMOSOME 22
HUMAN CHROMOSOMES
MUTATIONS
NEOPLASMS
SARCOMAS