1/9. rhabdomyosarcoma in children: report of two cases.rhabdomyosarcoma of soft tissue is the commonest sarcoma in pediatric medicine and comprises 15% of the solid tumors treated in pediatric oncology. It has an ample variety of clinical presentations in diverse organs and also presents a gamut of histopathological patterns, which sometimes make diagnosis difficult. We report two cases of rhabdomyosarcoma: one of the embryonic histological variety and the second one of the alveolar variety, which presented themselves in the preauricular and masseteric areas respectively. Both patients were male, diagnosed and treated.- - - - - - - - - - ranking = 1keywords = alveolar (Clic here for more details about this article) |
2/9. Spindle-cell rhabdomyosarcoma with 2q36 approximately q37 involvement.The cytogenetic analysis of a spindle-cell variant of embryonal rhabdomyosarcoma (RMS), presenting as a cheek mass in an 18-year-old girl, is reported. The tumor cells showed an abnormal karyotype 46,XX,der(2)t(2;7)(q36 approximately q37;q3?),del(14)(q24),der(16)t(1;16)(q21;q13), with a tetraploid range of chromosome number in a subpopulation of cells. By fluorescence in situ hybridization analysis, the tumor cells were negative for FKHR-disrupting translocations specific for alveolar type of RMS and for NMYC gene amplification.- - - - - - - - - - ranking = 1keywords = alveolar (Clic here for more details about this article) |
3/9. Embryonal rhabdomyosarcoma presenting as conjunctival tumor.The authors report the case of a 10-year-old girl who presented with a focal conjunctival lesion of the right eye. Conjunctival biopsy was performed and revealed an embryonal rhabdomyosarcoma. She received chemotherapy alone according to the Malignant Mesenchymal Tumor 95 Study (stage II nonalveolar orbital tumors) and is still in complete remission 6 months after the completion of treatment. Rhabdomyosarcomas of the conjunctiva without orbital extension are rarely reported. The authors discuss the prognosis and differential diagnosis of these lesions.- - - - - - - - - - ranking = 1keywords = alveolar (Clic here for more details about this article) |
4/9. Primary and metastatic rhabdomyosarcoma in the breast: report of two pediatric cases.rhabdomyosarcoma (RMS) is a common childhood malignancy which can rarely be located in the breast. Here, we report two pediatric cases of breast RMS, one primary, the other secondary involvement. Primary one is alveolar, and the other embryonal subtype. Imaging findings with ultrasonography (US), computed tomography (CT) and magnetic resonance imaging (MRI) and a thorough review of literature are presented.- - - - - - - - - - ranking = 1keywords = alveolar (Clic here for more details about this article) |
5/9. A novel t(2;20)(q35;p12) in embryonal rhabdomyosarcoma.rhabdomyosarcoma (RMS) is the most common soft-tissue sarcoma of childhood, accounting for 5%-8% of all pediatric malignancies. RMS can be categorized into several subtypes, including embryonal RMS (ERMS), the botryoid and spindle cell variants of ERMS, and alveolar RMS (ARMS). The t(2;13)(q35;q14) and the variant t(1;13)(p36;q14) are seen in a majority of ARMS cases. In contrast, the embryonal subtype of rhabdomyosarcoma has not been associated with a recurring chromosomal translocation. We describe here a novel chromosomal t(2;20)(q35;p12) occurring in a case of childhood RMS with embryonal histology. It is notable that this translocation harbors breakpoints at or near the locus of the PAX3 gene, which is involved in the most common recurring translocation associated with ARMS.- - - - - - - - - - ranking = 1keywords = alveolar (Clic here for more details about this article) |
6/9. adult sclerosing rhabdomyosarcoma: cytogenetic link with embryonal rhabdomyosarcoma.Rhabdomyosarcomas are classified into three well-defined categories: embryonal, alveolar and pleomorphic rhabdomyosarcoma. Recently, seven cases of an unusual adult type of rhabdomyosarcoma with a prominent hyaline sclerosis have been described. We report the hitherto unreported cytogenetic changes of an adult sclerosing rhabdomyosarcoma. A 79-year-old woman underwent an amputation for a rapidly growing soft tissue mass in the anterior compartment of the right lower leg. The tumor infiltrated the tibia. On histology, a fascicular spindle to round cell proliferation, embedded in a prominent hyaline matrix, was seen. immunohistochemistry showed focal desmin, myogenin and MyOD1 expression, and electron microscopy revealed Z-band material. cytogenetic analysis disclosed a 44-49,XX, del(1)(p22)[2], 11, 16[5], 18[12], 21[3],-22 [cp13] karyotype. Using fluorescent in situ hybridization (FISH) analysis, the tumor cells were negative for FOXO1A-disrupting translocations specific for alveolar rhabdomyosarcoma. The chromosomal composition of malignant cells resembled the pattern of numerical changes frequently observed in embryonal rhabdomyosarcoma, suggesting a close relationship of an adult sclerosing rhabdomyosarcoma with this entity.- - - - - - - - - - ranking = 2keywords = alveolar (Clic here for more details about this article) |
7/9. rhabdomyosarcoma of the tongue.Although rhabdomyosarcoma (RMS) has a predilection for the head and neck region its occurrence in the tongue is uncommon. We report 2 cases of RMS of the tongue, 1 paediatric and 1 adult patient. The child who had RMS of the alveolar type involving anterior two-thirds of the tongue was treated with surgery and chemotherapy and is disease-free at 84 months of follow-up. The adult patient had locally extensive embryonal RMS of posterior third of the tongue, received chemotherapy and radiotherapy but died with progressive disease at 24 months of follow-up.- - - - - - - - - - ranking = 1keywords = alveolar (Clic here for more details about this article) |
8/9. rhabdomyosarcoma presumed metastatic to the orbit.BACKGROUND: Orbital metastasis from rhabdomyosarcoma is a rare disorder with a poor prognosis for long-term survival. Only one other detailed account of this disorder has appeared in the ophthalmic literature. methods: The authors report the clinical features of four patients with presumed orbital metastasis from alveolar and embryonal rhabdomyosarcoma. RESULTS: The most common ophthalmic manifestations of orbital metastasis from rhabdomyosarcoma in these patients included proptosis, reduced visual acuity, orbital pain, and motility disorders. Computed tomography documented orbital masses in all of the patients. In those patients with a primary tumor of the maxillary sinus, there was no evidence of direct extension into the orbit. Despite combination chemotherapy and radiation, all four patients died of their illness within 6 months of orbital metastasis. CONCLUSIONS: Although uncommon, rhabdomyosarcoma should be considered in the differential diagnosis of metastatic tumors to the orbit in children and adults. Despite the poor prognosis, prompt diagnosis and palliative radiotherapy may improve the quality of life for these patients with terminal disease.- - - - - - - - - - ranking = 1keywords = alveolar (Clic here for more details about this article) |
9/9. Amplification of the t(2; 13) and t(1; 13) translocations of alveolar rhabdomyosarcoma in small formalin-fixed biopsies using a modified reverse transcriptase polymerase chain reaction.Detection of characteristic chromosomal translocations has aided diagnosis of the small round cell tumors of childhood and may help to stratify patients into clinical groups. The detection of the abnormalities by classical cytogenetic techniques has been supplemented by fluorescent in situ hybridization and reverse transcriptase polymerase chain reaction (RT-PCR). These techniques allow diagnoses to be made using only very small amounts of tumor tissue. We here describe a technique for the rapid and specific detection by modified reverse transcriptase polymerase chain reaction of characteristic chromosomal translocations of alveolar rhabdomyosarcoma with small amounts of formalin-fixed tissue as the starting material. Of 27 samples studied, 4 cases are described in which the detection of translocations by this method cast doubt on the original histopathological diagnosis. These cases demonstrate the critical diagnostic importance of the detection of these translocations in rhabdomyosarcoma.- - - - - - - - - - ranking = 5keywords = alveolar (Clic here for more details about this article) |