Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Pivot Concepts:
Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Target Concepts:
Gene/Protein
Disease
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Drug
Enzyme
Compound
Query: UMLS:C0035412 (
rhabdomyosarcoma
)
6,156
document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)
Rhabdomyosarcoma
is a common malignancy in children. There are two major types of rhabdomyosarcomas, the embryonal and the alveolar, differing in cytogenetic and morphologic features. The alveolar type of
rhabdomyosarcoma
is frequently associated with chromosome translocation t(2; 13) and poor clinical prognosis. Pathogenesis of
rhabdomyosarcoma
remains obscure, and especially it occurs in the location where skeletal muscle is absent. We report here that there is a high frequency of association of
rhabdomyosarcoma
with ataxia telangiectasia mutated (ATM) gene mutation/deletion. Totally 17 cases of
rhabdomyosarcoma
specimens were studied by immunohistochemical or immunofluorescent staining with ATM antibody and revealed that 7 of the 17 cases were negative for ATM expression (41%). Further analyses of
rhabdomyosarcoma
cell lines with RT-PCR revealed that in Rh30 cells, an alveolar
rhabdomyosarcoma
cell line, there are three separate deletions/mutations of the ATM mRNA. Western blotting analysis of the Rh30 cellular extract with anti-ATM antibody showed that there is an aberrant form of
ATM protein
within the Rh30 cells that are smaller than normal control. These results suggest, for the first time, a link of ATM gene deletion/mutation with
rhabdomyosarcoma
, and since ATM kinase is a crucial regulatory protein in DMA damage repair signaling pathway, and ATM deletion/mutation may contribute to pathogenesis of
rhabdomyosarcoma
.
...
PMID:Association of ataxia telangiectasia mutated (ATM) gene mutation/deletion with rhabdomyosarcoma. 1267 26
