title: Molecular differential pathology of rhabdomyosarcoma.
abstract: Tumors of the soft tissues are classified histogenetically according to their phenotypic resemblance to normal adult tissue. Here we describe molecular approaches that make it possible to distinguish between one class of these tumors, rhabdomyosarcoma, and other small-, round-cell tumors. We show that the ascertainment of specific genotypic changes can be used to distinguish further between the embryonal and alveolar subtypes of rhabdomyosarcoma. We tested our model in two ways: first, in a retrospective analysis of diagnostically problematic cases of undifferentiated, small-cell tumors and, second, in a blind study of pediatric tumors. Rhabdomyosarcoma was correctly identified in all cases using this strategy alone. The underlying simplicity of the strategy used to define rhabdomyosarcoma subtypes with molecular markers suggests a model by which tumors can be unequivocally identified, which may apply equally well to other human solid tumors.
authors.affiliation: Ludwig Institute for Cancer Research, Montreal, Quebec, Canada.
authors.forename: H
authors.initials: H
authors.lastname: Scrable
authors.forename: D
authors.initials: D
authors.lastname: Witte
authors.forename: H
authors.initials: H
authors.lastname: Shimada
authors.forename: T
authors.initials: T
authors.lastname: Seemayer
authors.forename: W W
authors.initials: WW
authors.lastname: Sheng
authors.forename: S
authors.initials: S
authors.lastname: Soukup
authors.forename: A
authors.initials: A
authors.lastname: Koufos
authors.forename: P
authors.initials: P
authors.lastname: Houghton
authors.forename: B
authors.initials: B
authors.lastname: Lampkin
authors.forename: W
authors.initials: W
authors.lastname: Cavenee
mesh_terms: D000293:Adolescent; D000328:Adult; D000483:Alleles; D002648:Child; D002675:Child, Preschool; D002880:Chromosomes, Human, Pair 11; D004273:DNA, Neoplasm / Q000302:isolation & purification; D003937:Diagnosis, Differential; D005260:Female; D015972:Gene Expression Regulation, Neoplastic / Q000502:physiology; D006579:Heterozygote; D006801:Humans; D007223:Infant; D008297:Male; D008875:Middle Aged; D010641:Phenotype; D012334:RNA, Neoplasm / Q000302:isolation & purification; D012189:Retrospective Studies; D012208:Rhabdomyosarcoma / Q000175:diagnosis / Q000235:genetics* / Q000473:pathology; D016037:Single-Blind Method
chemical_list: D004273:DNA, Neoplasm; D012334:RNA, Neoplasm