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)

Verified breast cancer was present in a father, his mother, and his daughter. His sone had a brain tumor (by history) and his grandson, (ehs sone of the affected daughter), had a histologically verified rhabdomyosarcoma. This familial aggregation of cancers (except for leukemia, which is absent) is consistent with a newly described familial breast cancer syndrome. A single pleiotropic, dominantly transmitted gene, possibly interacting with carcinogenic factors, such as an oncogenic virus, may be the cause. A cancer-control potential exists for tumor associations such as those exhibited in this kindred, as well as for other cancer genetic syndromes where careful consideration is given to all histologic varieties of cancer.
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PMID:Breast cancer genetics and cancer control. Tumor association. 119 Oct 14

The development of sarcomas in three generations of a family with neurofibromatosis (NF) is described. A 7-month-old boy developed a prostatic rhabdomyosarcoma. Family history revealed that his maternal grandmother had died of a malignant peripheral nerve sheath tumor at age 37 years and had been affected with neurofibromatosis. His mother (aged 36 years) has also developed a malignant peripheral nerve sheath tumor and NF has been confirmed in both mother and son. This family illustrates a cluster of sarcomas associated with NF and shows the importance of thorough investigation of reported family illnesses.
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PMID:Sarcomas in three generations of a family with neurofibromatosis. 210 63

The cell line TE671 has been widely used as a model of human medulloblastoma. In the present study we have demonstrated that transfection of DNA from this cell line into NIH 3T3 cells reveals the presence of an activated N-ras gene. Using oligonucleotide probes we have shown that the N-ras gene is activated by a point mutation at the third base of codon 61 resulting in the substitution of histidine for glutamine in the p21 ras gene product. We noted that this relatively uncommon activating mutation is also present in the human rhabdomyosarcoma cell line RD. Based on this finding and on the observation that several of the phenotypic characteristics of TE671, such as the presence of muscle-type nicotinic acetylcholine receptors and the intermediate filament protein desmin, are suggestive of myoid origin we investigated the possible identity of these two cell lines. Cytogenetic analysis revealed the presence of marker chromosomes common to both TE671 and RD. DNA fingerprinting using both locus specific and multilocus core probes showed indistinguishable band patterns in the two cell lines. Taken together our data show that TE671 and RD are derivatives of the same cell line and we conclude that the properties of the TE671 line should be ascribed to rhabdomyosarcoma rather than medulloblastoma cells.
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PMID:Characterization of the human cell line TE671. 265 Sep 8

A transforming N-ras allele was molecularly cloned from the RD human rhabdomyosarcoma cell line, and the nature of its activation studied. Construction of chimeric recombinants between the RD-transforming allele and a normal human allele enabled us to localize the alteration responsible for the activation to the second exon of the N-ras gene. The nucleotide sequence of this exon, when compared to that of the normal allele, revealed a single difference at the 61st amino acid position of the encoded protein; the CAA codon for glutamine in the normal allele was mutated to a CAT codon for histidine in the RD-transforming allele. This result is the first description of a histidine replacing glutamine in the 61st position and provides further evidence that the 61st amino acid is one of the preferential sites for N-ras activation.
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PMID:N-ras gene activation in the RD human rhabdomyosarcoma cell line. 315 13

A generalized ichthyosiform eruption developed in a 13-year-old boy three weeks before presentation with a paravertebral rhabdomyosarcoma. His skin returned to normal shortly after the onset of chemotherapy and remission of the tumor. This case is unusual because the ichthyosis developed acutely, following a generalized urticarial eruption, and also involved the palms and soles.
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PMID:Acquired ichthyosis in a child with rhabdomyosarcoma. 320 56

Familial adenomatous polyposis coli is a heterogeneous disease with respect to genetics as well as its colonic polyposis and cancer phenotype. The authors report a family with variation in phenotypic expression of polyps ranging from isolated polyps to florid carpeting of the entire colonic mucosal surface. In addition to early-onset colonic cancer, a patient with isolated polyps had a seminoma and subsequently developed gastroesophageal cancer. His son, also with isolated colonic polyps, manifested a pararectal rhabdomyosarcoma. The significance of these variations can only be assessed fully through the study of cancer of all anatomic sites in many additional families.
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PMID:Phenotypic variation in hereditary adenomatosis: unusual tumor spectrum. 612 89

There have been only a few published reports on the dental-facial effects of radiation therapy and the subsequent oral management of these patients. A case involving a 13-year-old black male patient with a history of rhabdomyosarcoma is presented. The patient received 4,050 rads of radiation to the right middle ear when he was 2 years of age. His residual medical and dental difficulties are apparently complications from the initial therapy. Examination of the oral cavity revealed bimaxillary micrognathia and marked loss of vertical dimension. A Class II facial profile with Class I molar relationship was observed. The mandible was thin and hypoplastic, with a small knife-edge alveolar ridge. The remaining eighteen erupted permanent teeth were very mobile, and root development had ceased after only initial formation. All of the teeth except the first permanent molars were extracted, and immediate partial dentures were inserted at the time of surgery. A discussion of therapeutic considerations follows the case report.
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PMID:Dental root agenesis secondary to irradiation therapy in a case of rhabdomyosarcoma of the middle ear. 658 39

The activation of ras genes in naturally occurring tumors has, thus far, been found to be due to mutations in codon 12 or 61 resulting in single amino acid substitutions. We have used highly labeled synthetic oligonucleotides to detect mutations in these codons and to determine the exact position of the mutation. Using this approach we have found three different mutations in codon 61 of the N-ras gene of various human tumor cell lines. In the fibrosarcoma line HT1080 the first nucleotide of the codon is mutated; in the promyelocytic line HL60 the second and in the rhabdomyosarcoma line RD301 the third nucleotide. For RD301 this implies that the normal glutamine residue at position 61 is replaced by histidine. In addition to the mutated N-ras gene the three cell lines have a normal N-ras gene which is indicative of the dominant character of the mutations.
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PMID:Three different mutations in codon 61 of the human N-ras gene detected by synthetic oligonucleotide hybridization. 659 42

The authors present a case of primary intracranial rhabdomyosarcoma. This is only the 10th reported case and is the only one in which the patient has survived longer than 2 years. A 9-month-old boy was found to have a large mass in the right posterior fossa. Posterior fossa craniotomy revealed an unencapsulated tumour involving almost the entire right cerebellar hemisphere and extending to the right cerebellar pontine angle. Subtotal removal was done for internal decompression. On examination of the specimen by light microscopy there were definite sarcomatous features with occasional rhabdopoietic elements and many malignant giant cells. The ultrastructural appearance confirmed the diagnosis of malignant rhabdomyosarcoma. The child was treated with combination chemotherapy and cobalt-60 teletherapy. He is alive and well 2 years after operation and has no clinical evidence of recurrent disease. His physical growth and mental development are satisfactory. The response of our patient suggests that such tumours may be controlled by subtotal removal followed by radiotherapy and chemotherapy.
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PMID:Rhabdomyosarcoma of the brain. 696 22

From 1980 to 1992 we followed 12 patients with cardiac myxomas for an average of 4.4 years (8 months-11 years). Presenting symptoms were neurological in four patients (hemiparesis, aphasia, visual field deficits, progressive dementia or vertigo), progressive dyspnoea in six, pulmonary embolism in one, and peripheral arterial or renal emboli in three. The diagnosis was suspected clinically in 11 patients. It was confirmed by echocardiography in ten and by thoracic CT in one. All these patients had cardiac surgery. One diagnosis was made at autopsy; the patient died unexpectedly during surgery for emboli to the leg arteries. At follow-up, two additional patients had died, one from myocardial infarction and one from rhabdomyosarcoma. Only one of the nine surviving patients had recurrent symptoms after cardiac surgery. His dementia continued to progress. The patients without new symptoms after cardiac surgery had normal MRI of the brain or residual ischaemic lesions. MRI of the patient with progressive dementia showed multiple cerebral lesions with a bright centre and a dark rim on T1- and T2-weighted spin-echo images. On CT there were many calcified lesions. CT, MR angiography and contrast angiography revealed multiple fusiform aneurysms. The rare occurrence of progressive neurological symptoms after myxoma resection with multiple cerebral lesions and aneurysms should suggest myxoma metastases to the brain.
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PMID:Cardiac myxomas: a long term study. 856 32


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