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)

A 56-year-old woman presented with frequency of micturition, haematuria and cardiac decompensation. Intravenous urography showed a large bladder tumour and an expansive lesion in the left kidney. The bladder tumour, removed by TUR, was found to be a rhabdomyosarcoma, and the resected tissue weighed about 310 g. Bilateral, selective renal angiography revealed a large arteriovenous aneurysm in the right kidney and a solid malignant tumour in the left. The aneurysmal vessels were ligated and cystourethrectomy and left nephrectomy were performed 2, 3 and 10 months, respectively, after the TUR. The excised urinary bladder contained no resicual tumour. A renal cell carcinoma was found in the excised left kidney. The patient recovered well, and three and a half years after TUR of the rhabdomyosarcoma she is fully active, with normal renal function and no evidence of disease.
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PMID:Large rhabdomyosarcoma of the urinary bladder in an adult. Case report. 407 Sep 93

We describe two Li-Fraumeni syndrome families. Family A was remarkable for two early childhood cases of adrenocortical tumours, family B for a high incidence of many characteristic cancers, including a childhood case of choroid plexus tumour. Using direct sequencing, we analysed exons 5-9 of the p53 gene in constitutional DNA of individuals from both families and found two novel germline mutations in exon 5. In family A, we detected a point substitution in codon 138 (GCC to CCC), which resulted in the replacement of the alanine by a proline residue. Family B harboured a single-base pair deletion in codon 178 (CAC to -AC), resulting in a frameshift and premature chain termination. Three out of six tumours examined from both families, a renal cell carcinoma, a rhabdomyosarcoma and a breast cancer, showed loss of heterozygosity and contained only the mutant p53 allele. The remaining three neoplasms, both adrenocortical tumours and the choroid plexus tumour retained heterozygosity. Immunohistochemistry with anti-p53 antibody confirmed accumulation of p53 protein in tumours with loss of heterozygosity, while the remaining tumours were p53 negative. These results support the view that complete loss of activity of the wild-type p53 need not be the initial event in the formation of all tumours in Li-Fraumeni individuals.
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PMID:Two Li-Fraumeni syndrome families with novel germline p53 mutations: loss of the wild-type p53 allele in only 50% of tumours. 956 35

Prostatic phyllodes tumor is an unusual lesion for which there are only occasional reports in the literature. We encountered a phyllodes tumor of the prostate in a 36-year-old man who had complained of urinary frequency and dysuria for one month. In October 1998, he visited our hospital and had a transurethral resection of the prostate (TUR-P) for obstructive symptoms. He experienced recurrent same symptoms in September 1999 and underwent another TUR-P. The pathologic examination at this time revealed phyllodes tumor. In the tumor, despite its regular alternating growth of ducts and stroma, the stromal element appeared histologically malignant, showing marked atypia and rhabdomyosarcoma-like components. Consequently, in December 1999, the patient underwent radical prostatectomy with lymph node dissection. The resection margins and pelvic lymph nodes were free of tumor. The patient remains alive and well after 14 months.
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PMID:[Phyllodes tumor of the prostate: a case report]. 1184 41