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Detection of the t(2;13) chromosomal translocation in alveolar rhabdomyosarcoma using the reverse transcriptase‐polymerase chain reaction
Author(s) -
Arden Karen C.,
Anderson Michael J.,
Finckenstein Friedrich Graf,
Czekay Suzanne,
Cavenee Webster K.
Publication year - 1996
Publication title -
genes, chromosomes and cancer
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.754
H-Index - 119
eISSN - 1098-2264
pISSN - 1045-2257
DOI - 10.1002/(sici)1098-2264(199608)16:4<254::aid-gcc5>3.0.co;2-x
Subject(s) - alveolar rhabdomyosarcoma , chromosomal translocation , biology , microbiology and biotechnology , reverse transcriptase , polymerase chain reaction , chromosome , rhabdomyosarcoma , fusion gene , karyotype , gene , fusion transcript , genetics , sarcoma , pathology , medicine
Rhabdomyosarcoma, a small‐, round‐cell tumor of skeletal muscle, is the most common soft tissue sarcoma found in children. A specific and unique chromosomal translocation, t(2;13)(q35;q14), has been described cytogenetically in a subset of these tumors and is most often associated with the alveolar histologic subtype. The cloning and sequencing of complementary DNA from fusion transcripts expressed by both cell lines and tumors have shown that this chromosomal translocation results in the fusion of the PAX3 gene on chromosome 2 with a member of the forkhead gene family, FKHR , on chromosome 13. To detect this genetic abnormality we have developed a sensitive method which relies on a reverse transcriptase‐polymerase chain reaction with primers designed to be specific for the chromosome 2 and chromosome 13 sides of the translocation. The utility of this approach was tested by analyzing a series of rhabdomyosarcoma cell lines and tumor samples. The data demonstrate that the transcripts derived from the t(2; 13) were restricted to tumors having features of the alveolar subtype and that they could be detected with greater ease and sensitivity than with cytogenetic analysis. This approach will facilitate a large‐scale group effort to determine the frequency as well as the prognostic and diagnostic significance of this chromosomal rearrangement. Genes Chromosom Cancer 16:254–260 (1996) . © 1996 Wiley‐Liss, Inc.