Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0035412 (rhabdomyosarcoma)
 6,156 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Malignant rhabdoid tumour of the kidney is a recently reported tumour presenting in young children. Irrespective of stage and despite intensive chemotherapy these tumours have a poor prognosis, with death usually occurring within a matter of months. A recent report has shown the association of second embryonal tumours of the central nervous system occurring in patients with the renal tumour; most of these second tumours have occurred in the posterior fossa. We report here an infant who presented with a mass in the right groin, showing features of a poorly differentiated sarcoma, possibly rhabdomyosarcoma. Further investigations revealed a tumour in the lower pole of the right kidney which was subsequently shown to be a malignant rhabdoid tumour. The child was given chemotherapy but re-presented at 10 months of age with hydrocephalus, irritability and spasms leading to death. At autopsy a large tumour was found filling the right lateral and third ventricles; histology showed a primitive neuroectodermal tumour with focal astrocytic differentiation. Residual rhabdoid tumour was restricted to a few para-aortic lymph nodes and focal lymphatic micrometastases in lungs. The association of two embryonal neoplasms of possible similar histogenesis is discussed.
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PMID:Primitive neuroectodermal tumour of the central nervous system associated with malignant rhabdoid tumour of the kidney: report of a case. 301 61

Intracranial rhabdomyosarcomas are rare neoplasms, and those thought to be primary meningeal tumors are even more rare. Hypomelanosis of Ito is a neurocutaneous disorder believed to involve a defect in cells of neural crest origin. We report the case of a 15-month-old boy with hypomelanosis of Ito who developed a primary meningeal rhabdomyosarcoma. The patient initially presented with hydrocephalus and 2 months later developed neurologic signs localizing to the spinal cord. Radiologic studies revealed widespread leptomeningeal enhancement with compression of the spinal cord at C5-C7. A brain biopsy revealed a tumor diffusely involving the meninges. Microscopically, the tumor was composed of rhabdomyoblasts, many of which showed prominent cross-striations on routine hematoxylin-eosin staining. To the best of our knowledge, this is the first reported case of meningeal rhabdomyosarcoma in a patient with hypomelanosis of Ito and the fourth reported case of a primary meningeal rhabdomyosarcoma reported in the world literature.
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PMID:Primary meningeal rhabdomyosarcoma in a child with hypomelanosis of Ito. 1133 19

Dysregulation of the Hedgehog signaling pathway is central to the development of certain tumor types, including medulloblastoma and basal cell carcinoma (BCC). Patched1 (Ptch1) and Suppressor of fused (Sufu) are two essential negative regulators of the pathway with tumor suppressor activity. Ptch1(+/-) mice are predisposed to developing medulloblastoma and rhabdomyosarcoma, while Sufu(+/-) mice develop a skin phenotype characterized by basaloid epidermal proliferations. Here, we have studied tumor development in Sufu(+/-)Ptch1(+/-) mice to determine the effect of compound heterozygosity on the onset, incidence, and spectrum of tumors. We found significantly more (2.3-fold) basaloid proliferations in Sufu(+/-)Ptch1(+/-) compared to Sufu(+/-) female, but not male, mice. For medulloblastoma, the cumulative 1-yr incidence was 1.5-fold higher in Sufu(+/-)Ptch1(+/-) compared to Ptch1(+/-) female mice but this strong trend was not statistically significant. Together this suggests a weak genetic interaction of the two tumor suppressor genes. We noted a few rhabdomyosarcomas and pancreatic cysts in the Sufu(+/-)Ptch1(+/-) mice, but the numbers were not significantly different from the single heterozygous mice. Hydrocephalus developed in approximately 20% of the Ptch1(+/-) and Sufu(+/-)Ptch1(+/-) but not in Sufu(+/-) mice. Interestingly, most of the medulloblastomas from the Sufu(+/-)Ptch1(+/-) mice had lost expression of the remaining Ptch1 wild-type allele but not the Sufu wild-type allele. On the contrary, Sufu as well as Gli1 and Gli2 expression was upregulated in the medulloblastomas compared to adult cerebellum in Ptch1(+/-) and Sufu(+/-)Ptch1(+/-) mice. This suggests that Sufu expression may be regulated by Hedgehog pathway activity and could constitute another negative feedback loop in the pathway.
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PMID:Tumor suppressor gene co-operativity in compound Patched1 and suppressor of fused heterozygous mutant mice. 1878 8

Primary intracranial rhabdomyosarcoma is quite rare, and its prognosis is poor compared with that for rhabdomyosarcoma in other organs. The authors present a case of pineal rhabdomyosarcoma successfully managed with multimodal therapy including surgery, chemotherapy, radiation, and high-dose chemotherapy (HDC) followed by autologous peripheral blood stem cell transplantation (HDC/APBSCT). An 8-year-old girl presenting with headache and nausea was referred to the authors' institution. Computed tomography and MRI revealed a pineal tumor associated with obstructive hydrocephalus. Subsequently, an emergent endoscopic tumor biopsy and third ventriculostomy were performed. The patient's symptoms immediately improved. The most likely pathological diagnosis was embryonal rhabdomyosarcoma. Chemotherapy with etoposide, cyclophosphamide, cisplatin, pirarubicin, ifosfamide, actinomycin D, and vincristine was followed by a second-look operation and whole-brain and craniospinal radiation. Because the intraoperative findings and pathological examination of the second operation suggested a definitive diagnosis of rhabdomyosarcoma and the presence of viable residual tumor cells, HDC with etoposide and melphalan was followed by APBSCT. The patient was discharged from the hospital without residual tumor or any neurological deficit. No recurrence was observed at 30 months. This is the first case of primary pineal rhabdomyosarcoma treated with HDC/APBSCT. Although the efficacy of HDC/APBSCT for rhabdomyosarcoma has not been established, the prognosis of primary intracranial rhabdomyosarcoma treated with conventional treatment is quite poor. High-dose chemotherapy followed by APBSCT may contribute to a better prognosis for primary intracranial rhabdomyosarcoma.
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PMID:Primary pineal rhabdomyosarcoma successfully treated by high-dose chemotherapy followed by autologous peripheral blood stem cell transplantation: case report. 2694 66

Leptomeningeal carcinomatosis (LMC) refers to the infiltration of malignant cells in the pia-arachnoids. LMC is undiagnosed until autopsy in about 20% of cases. A nonspecific neurologic symptomatology makes diagnosis challenging; especially in the scenario of unknown malignancy. Diagnosis is made by the identification of malignant cells in CSF; though studies have shown that serial examination may be required for acceptable accuracy. We report 3 cases with distinct neurological presentations, negative cerebrospinal fluid (CSF) examinations and neurological imaging. A 52 year old woman with history of breast cancer on remission, a 2 year old male with left ear rhabdomyosarcoma status post resection, and a 59 year old woman with communicating hydrocephalus of unknown etiology. LMC was diagnosed at autopsy and confirmed by immunohistochemistry. LMC is a complication requiring a high level of clinical suspicion. Postmortem examination is an invaluable tool to confirm LMC as part of the multidisciplinary approach aiming towards the improvement of clinical diagnosis.
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PMID:Leptomeningeal Carcinomatosis as the Initial Manifestation of Metastatic Disease diagnosed in Postmortem Examination: A Case Series. 3092 18