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)

About 5% of Mendelian mutations displaying neoplastic tendencies are associated with chromosomal aberrations. The best established examples are retinoblastoma and del(13)(q14) and aniridia-Wilms' tumor and del(11)(p13). Evidence suggests that both mutations behave as dominant traits in the individual and as recessive traits in the cells. DNA analysis indicates that tumorigenesis arises from homozygosisty for the mutant allele at these loci, as a consequence of mitotic nondisjunction or from a mitotic recombination event. An additional argument for this conclusion is provided by the demonstration of duplication of 11p15 in some patients with the Beckwith-Wiedemann syndrome, which is complicated often by Wilms' tumor and other embryonal tumors. Data obtained with molecular probes have shown that also rhabdomyosarcoma and hepatoblastoma arise by homozygosity for a mutant allele at a locus on 11p, suggesting ontogenic relatedness of these tumor types. Additional examples of Mendelian mutations associated with chromosome deletions and neoplasia include Langer-Giedion syndrome with multiple exostoses and del(8)(q24.1), multiple endocrine neoplasia and del(20)(p12.2). While the presence of specific chromosome changes in subjects with high susceptibility to neoplasia does pinpoint the location of DNA sequences involved in the predisposition to certain types of cancers, selected Mendelian mutations associated with chromosome instability and cancer proneness may elucidate biological principles of cell proliferation and transformation. However, our current knowledge of mechanisms resulting in increased frequency of chromosome breakage and cancer susceptibility in ataxia-teleangiectasia, Fanconi's anemia, Bloom's syndrome, and similar conditions are still very incomplete.
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PMID:Cytogenetics of Mendelian mutations associated with cancer proneness. 382 76

Although reversibility of acute ifosfamide-induced nephrotoxicity is well documented, there is a paucity of data concerning the long-term outcome of chronic renal toxicity, and full recovery from established damage has not been reported. A 4-year-old boy presented with hypophosphatemic rickets 9 months after completion of combination chemotherapy (including ifosfamide) for prostatic rhabdomyosarcoma. Further investigation confirmed glomerular and generalised tubular dysfunction with a Fanconi syndrome. However, serial investigation over the next 4 years revealed complete and sustained recovery of this chronic nephrotoxicity.
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PMID:Late reversibility of chronic ifosfamide-associated nephrotoxicity in a child. 895 Mar 39