title: Cytogenetic and real-time quantitative reverse-transcriptase polymerase chain reaction analyses in pleomorphic rhabdomyosarcoma.
abstract: Pleomorphic rhabdomyosarcoma (PRMS) is a rare variant of rhabdomyosarcoma that occurs mostly in adults. A few cytogenetic studies of PRMS have been reported, but no consistent specific chromosome aberrations were detected. We herein report a cytogenetic study of three cases of pleomorphic rhabdomyosarcoma using a conventional G-banded karyotyping analysis. The three cases appeared to exhibit an extremely complex karyotype with numeric and structural rearrangements. Although the three cases displayed several common aberrations, including -2, -4, -9, -13, -14, -15, -19, -21, add(X)(p11), add(1)(q11), add(7)(p11), and add(13)(p11), no recurrent characteristic chromosomal aberrations could be detected. In addition, among these cases and seven other cases of previously reported PRMS, the most frequent chromosomal alterations were -2, -13, -14, -15, -16, and -19. No obviously consistent structural alterations can be found in these 10 PRMS cases, however, thereby suggesting that it is difficult to confirm whether these complex karyotypes correlated with the diagnosis or clinical outcome in PRMS. In this study, we detected MyoD1 and myogenin gene transcripts at the mRNA level in four cases of PRMS together with other soft-tissue sarcomas, including seven cases of malignant fibrous hitiocytoma, five cases of liposacroma, and three cases of leiomyosacroma using a real-time quantitative reverse-transcriptase polymerase chain reaction (RT-PCR) analysis. High-level expressions of MyoD1 and myogenin gene transcripts were determined in all cases of PRMS. In contrast, the other non-PRMS sarcomas showed either no expression or extremely weak expressions for both genes. Our findings suggest that the detections of MyoD1 and myogenin transcripts using real-time quantitative RT-PCR, combined with immunohistochemical stains, are extremely sensitive and useful for the diagnosis of PRMS.
authors.affiliation: Division of Orthopedic Surgery, Graduate School of Medical and Dental Sciences, Niigata University Hospital, Niigata, Japan.
authors.forename: Guidong
authors.initials: G
authors.lastname: Li
authors.forename: Akira
authors.initials: A
authors.lastname: Ogose
authors.forename: Hiroyuki
authors.initials: H
authors.lastname: Kawashima
authors.forename: Hajime
authors.initials: H
authors.lastname: Umezu
authors.forename: Tetsuo
authors.initials: T
authors.lastname: Hotta
authors.forename: Tsuyoshi
authors.initials: T
authors.lastname: Tohyama
authors.forename: Takashi
authors.initials: T
authors.lastname: Ariizumi
authors.forename: Naoto
authors.initials: N
authors.lastname: Endo
mesh_terms: D000008:Abdominal Neoplasms / Q000175:diagnosis* / Q000235:genetics / Q000473:pathology; D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D001859:Bone Neoplasms / Q000175:diagnosis* / Q000235:genetics / Q000473:pathology; D020732:Cytogenetic Analysis / Q000379:methods*; D003937:Diagnosis, Differential; D005260:Female; D006801:Humans; D008297:Male; D008875:Middle Aged; D012189:Retrospective Studies; D020133:Reverse Transcriptase Polymerase Chain Reaction / Q000379:methods*; D012208:Rhabdomyosarcoma / Q000175:diagnosis* / Q000235:genetics / Q000473:pathology