Rhabdomyosarcoma: molecular diagnostics of patients classified by morphology and immunohistochemistry with emphasis on bone marrow and purged peripheral blood progenitor cells involvement
Language English Country Germany Media print-electronic
Document type Journal Article, Research Support, Non-U.S. Gov't
- MeSH
- Rhabdomyosarcoma, Alveolar chemistry genetics secondary therapy MeSH
- Molecular Diagnostic Techniques methods MeSH
- Child MeSH
- Rhabdomyosarcoma, Embryonal chemistry genetics secondary therapy MeSH
- Hematopoietic Stem Cells pathology MeSH
- Immunohistochemistry MeSH
- Infant MeSH
- Bone Marrow pathology MeSH
- Humans MeSH
- Neoplasm Recurrence, Local MeSH
- RNA, Messenger metabolism MeSH
- Adolescent MeSH
- MyoD Protein genetics metabolism MeSH
- Biomarkers, Tumor analysis MeSH
- Muscle Neoplasms chemistry genetics pathology surgery MeSH
- Infant, Newborn MeSH
- Reverse Transcriptase Polymerase Chain Reaction MeSH
- Child, Preschool MeSH
- Recombinant Fusion Proteins analysis genetics MeSH
- RNA, Neoplasm analysis MeSH
- Treatment Outcome MeSH
- Check Tag
- Child MeSH
- Infant MeSH
- Humans MeSH
- Adolescent MeSH
- Male MeSH
- Infant, Newborn MeSH
- Child, Preschool MeSH
- Female MeSH
- Publication type
- Journal Article MeSH
- Research Support, Non-U.S. Gov't MeSH
- Names of Substances
- RNA, Messenger MeSH
- MyoD Protein MeSH
- MyoD1 myogenic differentiation protein MeSH Browser
- Biomarkers, Tumor MeSH
- Recombinant Fusion Proteins MeSH
- RNA, Neoplasm MeSH
Two histologically distinct subtypes of rhabdomyosarcomas (RMS), embryonal and alveolar, are different in many aspects, such as age distribution, primary site, and clinical outcome. We analyzed a group of 30 patients with RMS. The aim was to broaden the spectrum of diagnostic tools in evaluating the primary tumors, their recurrences and/or metastases, and to extend the diagnostic boundary to bone marrow and purged peripheral progenitor blood cell samples. We have performed the RT-PCR assay to analyze RMS for the presence of expression of MyoD1 gene and for the presence of chimeric transcripts PAX3/FKHR or PAX7/FKHR. MyoD1 gene expression was found in all 30 patients in samples from primary tumors. The chimeric transcripts PAX/FKHR were identified in 13 of 15 patients with alveolar RMS. Furthermore, the fusion transcript PAX7/FKHR was identified in 2 of 15 patients with RMS classified as embryonal by histology. Bone marrow samples (12) and peripheral blood progenitor cell specimens (13) in ten patients were examined by RT-PCR. We were able to identify 7 patients with bone marrow involvement and/or with contamination of peripheral blood progenitor cells by the tumor cells. We demonstrate that employing molecular diagnostics has an impact on staging, therapy monitoring and recognition of malignant cells at the tumor resection margins.
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Detection and clinical significance of bone marrow involvement in patients with rhabdomyosarcoma
