Solid alveolar rhabdomyosarcoma of the thorax in a child
| Autor: | Elisabeth Brambilla, I Pin, Olivier Delattre, C Armari-Alla, H. Sartelet, Sylvie Lantuejoul |
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| Rok vydání: | 1998 |
| Předmět: |
Genetic Markers
Male Pathology medicine.medical_specialty Histology Vimentin Mediastinal Neoplasms Polymerase Chain Reaction Pathology and Forensic Medicine Metastasis Solid Alveolar Rhabdomyosarcoma Immunophenotyping medicine Humans Rhabdomyosarcoma Child Rhabdomyosarcoma Alveolar biology Bronchial Neoplasms Mediastinum General Medicine medicine.disease Immunohistochemistry medicine.anatomical_structure biology.protein Alveolar rhabdomyosarcoma Sarcoma |
| Zdroj: | Histopathology. 32(2) |
| ISSN: | 0309-0167 |
| Popis: | Aims: This case illustrates the difficulties and pitfalls of diagnosis of alveolar rhabdomyosarcoma in its solid variant and in an unusual primary location, the mediastinum. Case details: A 9-year-old boy presented with a primary thoracic tumour associated with metastasis in the left sacroiliac joint. Bronchial and mediastinal biopsies showed a malignant neoplasm with a solid sheet-like pattern of small round cells with a high nuclear to cytoplasmic ratio associated with little or no fibrosis usually evocative of a peripheral neuroectodermal tumour (PNET) at this age. Immunohistochemical positive staining with vimentin (80% of tumour cells), desmin (20%) and titin (30%) antibodies was suggestive of a rhabdomyosarcoma. In addition, all neural cell adhesion molecule (NCAM) markers tested were positive as well as MIC2, a marker for the Ewing family of sarcomas. There was no rhabdomyoid differentiation at ultrastructural examination. Molecular analysis with RT-PCR amplification of RNA isolated from the tumour demonstrated the presence of a PAX3/FKHR fusion transcript, product of a t(2;13) reciprocal translocation, a genetic marker specific for alveolar rhabdomyosarcoma. Conclusion: The diagnostic methodology of a small round cell tumour of the child must now include immunohistochemical study and molecular biology to confirm the diagnosis of alveolar rhabdomyosarcoma, in a solid and undifferentiated variant. |
| Databáze: | OpenAIRE |
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