title: Molecular and cytogenetic analysis of chromosomal arms 2q and 13q in alveolar rhabdomyosarcoma.
abstract: We present cytogenetic and molecular genetic analyses of two cases of alveolar rhabdomyosarcoma. The characteristic translocation between chromosomes 2 and 13, t(2;13)(q35;q14), has been identified in both cases. Using cell lines derived from these tumor specimens, we have performed Southern blot analysis to investigate the possibility of rearrangement of 14 candidate genes mapping to the relevant regions of 2q and 13q. These candidate genes can be divided into 5 groups: signal transduction proteins (RB1, inhibin alpha, FLT1, and HOX4B), muscle-specific products [myosin light chain, desmin, and nicotinic cholinergic receptor subunits gamma and delta (CHRNG and CHRND)], extracellular matrix proteins (collagen type VI alpha 3 chain, elastin, and fibronectin), transformation-associated products (intestinal alkaline phosphatase and L-plastin), and other genes (esterase D). Conventional gel electrophoresis followed by Southern blot analysis indicated no evidence of rearrangement within or near these genes except for a rearrangement in the CHRNG-CHRND locus, which occurred only in a subpopulation of the late recurrence tumor cells of one patient. In addition, we employed pulsed-field gel electrophoresis-Southern blot analysis to demonstrate the absence of detectable rearrangements within a larger region around each of these genes.
authors.affiliation: Division of Human Genetics and Molecular Biology, Children's Hospital of Philadelphia, PA 19104.
authors.forename: F G
authors.initials: FG
authors.lastname: Barr
authors.forename: J A
authors.initials: JA
authors.lastname: Biegel
authors.forename: B
authors.initials: B
authors.lastname: Sellinger
authors.forename: R B
authors.initials: RB
authors.lastname: Womer
authors.forename: B S
authors.initials: BS
authors.lastname: Emanuel
mesh_terms: D000008:Abdominal Neoplasms / Q000235:genetics* / Q000473:pathology; D000293:Adolescent; D002882:Chromosomes, Human, Pair 13 / Q000648:ultrastructure*; D002889:Chromosomes, Human, Pair 2 / Q000648:ultrastructure*; D015342:DNA Probes; D016326:Extracellular Matrix Proteins / Q000235:genetics; D005260:Female; D015321:Gene Rearrangement; D005819:Genetic Markers; D006801:Humans; D008297:Male; D009124:Muscle Proteins / Q000235:genetics; D009363:Neoplasm Proteins / Q000235:genetics*; D009364:Neoplasm Recurrence, Local / Q000235:genetics; D011950:Receptors, Cholinergic / Q000235:genetics; D012208:Rhabdomyosarcoma / Q000235:genetics* / Q000473:pathology; D015398:Signal Transduction; D012983:Soft Tissue Neoplasms / Q000235:genetics* / Q000473:pathology; D014178:Translocation, Genetic; D014407:Tumor Cells, Cultured / Q000648:ultrastructure
chemical_list: D015342:DNA Probes; D016326:Extracellular Matrix Proteins; D005819:Genetic Markers; D009124:Muscle Proteins; D009363:Neoplasm Proteins; D011950:Receptors, Cholinergic