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10.1016/S0002-9440(10)65732-X

http://scihub22266oqcxt.onion/10.1016/S0002-9440(10)65732-X
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suck abstract from ncbi


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pmid9811336      Am+J+Pathol 1998 ; 153 (5): 1451-8
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  • Congenital mesoblastic nephroma t(12;15) is associated with ETV6-NTRK3 gene fusion: cytogenetic and molecular relationship to congenital (infantile) fibrosarcoma #MMPMID9811336
  • Rubin BP; Chen CJ; Morgan TW; Xiao S; Grier HE; Kozakewich HP; Perez-Atayde AR; Fletcher JA
  • Am J Pathol 1998[Nov]; 153 (5): 1451-8 PMID9811336show ga
  • Morphological, cytogenetic, and biological evidence supports a relationship between congenital (infantile) fibrosarcoma (CFS) and congenital mesoblastic nephroma (CMN). These tumors have a very similar histological appearance, and they are both associated with polysomies for chromosomes 8, 11, 17, and 20. Recently, CFS was shown to contain a novel t(12; 15)(p13;q25) translocation resulting in ETV6-NTRK3 gene fusion. The aims of this study were to determine whether congenital mesoblastic nephroma contains the t(12;15)(p13;q25) translocation and ETV6-NTRK3 gene fusion and whether ETV6-NTRK3 fusions, in CMN and CFS, antedate acquisition of nonrandom chromosome polysomies. To address these aims, we evaluated 1) ETV6-NTRK3 fusion transcripts by reverse transcriptase polymerase chain reaction and sequence analysis, 2) genomic ETV6-region chromosomal rearrangement by fluorescence in situ hybridization, and 3) chromosomal polysomies by karyotyping and fluorescence in situ hybridization. We report ETV6-NTRK3 fusion transcripts and/or ETV6-region rearrangement in five of six CMNs and in five of five CFSs. The ETV6-NTRK3 fusion transcripts and/or ETV-region chromosome rearrangements were demonstrated in two CMNs and one CFS that lacked chromosome polysomies. These findings demonstrate that t(12;15) translocation, and the associated ETV6-NTRK3 fusion, can antedate acquisition of chromosome polysomies in CMN and CFS. CMN and CFS are pathogenetically related, and it is likely that they represent a single neoplastic entity, arising in either renal or soft tissue locations.
  • |*Artificial Gene Fusion[MESH]
  • |*Chromosomes, Human, Pair 12[MESH]
  • |*Chromosomes, Human, Pair 15[MESH]
  • |*Repressor Proteins[MESH]
  • |DNA-Binding Proteins/*genetics[MESH]
  • |ETS Translocation Variant 6 Protein[MESH]
  • |Female[MESH]
  • |Fibrosarcoma/*congenital/*genetics[MESH]
  • |Genetic Markers[MESH]
  • |Humans[MESH]
  • |In Situ Hybridization, Fluorescence[MESH]
  • |Infant, Newborn[MESH]
  • |Karyotyping[MESH]
  • |Kidney Neoplasms/*genetics[MESH]
  • |Male[MESH]
  • |Nephroma, Mesoblastic/*genetics[MESH]
  • |Proto-Oncogene Proteins c-ets[MESH]
  • |Receptor Protein-Tyrosine Kinases/*genetics[MESH]
  • |Receptor, trkC[MESH]
  • |Receptors, Nerve Growth Factor/*genetics[MESH]
  • |Soft Tissue Neoplasms/*congenital/*genetics[MESH]


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