PubMed:11507701 JSONTXT

{"project":"PennBioIE","denotations":[{"id":"T1","span":{"begin":141,"end":146},"obj":"protein"},{"id":"T2","span":{"begin":477,"end":483},"obj":"protein"},{"id":"T3","span":{"begin":485,"end":488},"obj":"protein"},{"id":"T4","span":{"begin":532,"end":550},"obj":"protein"},{"id":"T5","span":{"begin":646,"end":651},"obj":"protein"},{"id":"T6","span":{"begin":977,"end":983},"obj":"protein"},{"id":"T7","span":{"begin":985,"end":988},"obj":"protein"},{"id":"T8","span":{"begin":991,"end":1010},"obj":"protein"},{"id":"T9","span":{"begin":1012,"end":1015},"obj":"protein"},{"id":"T10","span":{"begin":1018,"end":1024},"obj":"protein"},{"id":"T11","span":{"begin":1026,"end":1031},"obj":"protein"},{"id":"T12","span":{"begin":1037,"end":1041},"obj":"protein"},{"id":"T13","span":{"begin":1081,"end":1094},"obj":"protein"},{"id":"T14","span":{"begin":1098,"end":1103},"obj":"protein"},{"id":"T15","span":{"begin":1104,"end":1105},"obj":"protein"},{"id":"T16","span":{"begin":1107,"end":1109},"obj":"protein"},{"id":"T17","span":{"begin":1111,"end":1113},"obj":"protein"},{"id":"T18","span":{"begin":1118,"end":1120},"obj":"protein"},{"id":"T19","span":{"begin":1124,"end":1129},"obj":"protein"},{"id":"T20","span":{"begin":1147,"end":1157},"obj":"protein"},{"id":"T21","span":{"begin":1182,"end":1188},"obj":"protein"},{"id":"T22","span":{"begin":1190,"end":1193},"obj":"protein"},{"id":"T23","span":{"begin":1199,"end":1203},"obj":"protein"},{"id":"T24","span":{"begin":1384,"end":1390},"obj":"protein"},{"id":"T25","span":{"begin":1395,"end":1399},"obj":"protein"},{"id":"T26","span":{"begin":1417,"end":1422},"obj":"protein"},{"id":"T27","span":{"begin":1423,"end":1430},"obj":"protein"},{"id":"T28","span":{"begin":1576,"end":1602},"obj":"protein"},{"id":"T29","span":{"begin":1647,"end":1654},"obj":"protein"},{"id":"T30","span":{"begin":1700,"end":1714},"obj":"protein"},{"id":"T31","span":{"begin":1728,"end":1751},"obj":"protein"},{"id":"T32","span":{"begin":1753,"end":1754},"obj":"protein"},{"id":"T33","span":{"begin":1754,"end":1757},"obj":"protein"},{"id":"T34","span":{"begin":1757,"end":1758},"obj":"protein"},{"id":"T35","span":{"begin":1777,"end":1781},"obj":"protein"},{"id":"T36","span":{"begin":1782,"end":1783},"obj":"protein"},{"id":"T37","span":{"begin":1785,"end":1787},"obj":"protein"},{"id":"T38","span":{"begin":1789,"end":1791},"obj":"protein"},{"id":"T39","span":{"begin":1796,"end":1798},"obj":"protein"},{"id":"T40","span":{"begin":1802,"end":1807},"obj":"protein"},{"id":"T41","span":{"begin":1908,"end":1913},"obj":"protein"}],"text":"Fine-needle aspiration biopsy diagnosis of gastrointestinal stromal tumors using morphology, immunocytochemistry, and mutational analysis of c-kit.\nBACKGROUND: Differentiating gastrointestinal stromal tumors (GISTs) from other intramural mesenchymal tumors of the GI tract on fine-needle aspiration biopsies (FNABs) is difficult. Recent studies have shown that GISTs are immunophenotypically and genetically distinct. GISTs exhibit consistent immunohistochemical expression of CD-117 (KIT) and often express activating mutations of this protooncogene. The aim of the current study was to employ immunocytochemistry and mutational analysis of the c-kit gene to aid in the diagnosis of GISTs on FNAB.\nMETHODS: Five endoscopic ultrasound-guided FNABs of gastrointestinal spindle cell neoplasms performed at the Veterans Affairs Medical Center (VAMC) in Portland, Oregon, from 1998-1999 were reviewed. A panel of immunocytochemical stains was performed on each cellblock including CD-117 (KIT), smooth muscle actin (SMA), desmin, S-100, and CD34. Genomic DNA (gDNA) was extracted, and amplification of exons 9, 11, 13 and 17 of c-kit was performed by polymerase chain reaction (PCR) on CD-117 (KIT) and CD34 positive cases. Direct sequencing of amplicons identified the mutations.\nRESULTS: Five patients were diagnosed with GISTs based on morphology and immunocytochemical positivity for CD-117 and CD34. PCR analysis of c-kit exon 11 revealed three cases with novel-sized PCR bands in addition to the expected wild-type-sized PCR product. Amplicons from these cases contained an in-frame deletion mutation. One of the two cases with wild-type-;sized exon 11 amplicons was found to be heterozygous for a point mutation producing an amino acid substitution (W557R). No mutations in exon 9, 11, 13, or 17 of c-kit were found in the remaining case.\nCONCLUSIONS: Ancillary techniques such as immunocytochemistry and c-kit gene mutational analysis may aid in the diagnosis of GISTs on FNABs."}

{"project":"DisGeNET5_gene_disease","denotations":[{"id":"11507701-14#53#58#gene3815","span":{"begin":1908,"end":1913},"obj":"gene3815"},{"id":"11507701-14#112#116#diseaseC0238198","span":{"begin":1967,"end":1971},"obj":"diseaseC0238198"},{"id":"11507701-9#109#113#gene947","span":{"begin":1395,"end":1399},"obj":"gene947"},{"id":"11507701-9#34#38#diseaseC0238198","span":{"begin":1320,"end":1324},"obj":"diseaseC0238198"}],"relations":[{"id":"53#58#gene3815112#116#diseaseC0238198","pred":"associated_with","subj":"11507701-14#53#58#gene3815","obj":"11507701-14#112#116#diseaseC0238198"},{"id":"109#113#gene94734#38#diseaseC0238198","pred":"associated_with","subj":"11507701-9#109#113#gene947","obj":"11507701-9#34#38#diseaseC0238198"}],"text":"Fine-needle aspiration biopsy diagnosis of gastrointestinal stromal tumors using morphology, immunocytochemistry, and mutational analysis of c-kit.\nBACKGROUND: Differentiating gastrointestinal stromal tumors (GISTs) from other intramural mesenchymal tumors of the GI tract on fine-needle aspiration biopsies (FNABs) is difficult. Recent studies have shown that GISTs are immunophenotypically and genetically distinct. GISTs exhibit consistent immunohistochemical expression of CD-117 (KIT) and often express activating mutations of this protooncogene. The aim of the current study was to employ immunocytochemistry and mutational analysis of the c-kit gene to aid in the diagnosis of GISTs on FNAB.\nMETHODS: Five endoscopic ultrasound-guided FNABs of gastrointestinal spindle cell neoplasms performed at the Veterans Affairs Medical Center (VAMC) in Portland, Oregon, from 1998-1999 were reviewed. A panel of immunocytochemical stains was performed on each cellblock including CD-117 (KIT), smooth muscle actin (SMA), desmin, S-100, and CD34. Genomic DNA (gDNA) was extracted, and amplification of exons 9, 11, 13 and 17 of c-kit was performed by polymerase chain reaction (PCR) on CD-117 (KIT) and CD34 positive cases. Direct sequencing of amplicons identified the mutations.\nRESULTS: Five patients were diagnosed with GISTs based on morphology and immunocytochemical positivity for CD-117 and CD34. PCR analysis of c-kit exon 11 revealed three cases with novel-sized PCR bands in addition to the expected wild-type-sized PCR product. Amplicons from these cases contained an in-frame deletion mutation. One of the two cases with wild-type-;sized exon 11 amplicons was found to be heterozygous for a point mutation producing an amino acid substitution (W557R). No mutations in exon 9, 11, 13, or 17 of c-kit were found in the remaining case.\nCONCLUSIONS: Ancillary techniques such as immunocytochemistry and c-kit gene mutational analysis may aid in the diagnosis of GISTs on FNABs."}

{"project":"DisGeNET","denotations":[{"id":"T0","span":{"begin":646,"end":651},"obj":"gene:3815"},{"id":"T1","span":{"begin":684,"end":689},"obj":"disease:C0238198"}],"relations":[{"id":"R1","pred":"associated_with","subj":"T0","obj":"T1"}],"namespaces":[{"prefix":"gene","uri":"http://www.ncbi.nlm.nih.gov/gene/"},{"prefix":"disease","uri":"http://purl.bioontology.org/ontology/MEDLINEPLUS/"}],"text":"Fine-needle aspiration biopsy diagnosis of gastrointestinal stromal tumors using morphology, immunocytochemistry, and mutational analysis of c-kit.\nBACKGROUND: Differentiating gastrointestinal stromal tumors (GISTs) from other intramural mesenchymal tumors of the GI tract on fine-needle aspiration biopsies (FNABs) is difficult. Recent studies have shown that GISTs are immunophenotypically and genetically distinct. GISTs exhibit consistent immunohistochemical expression of CD-117 (KIT) and often express activating mutations of this protooncogene. The aim of the current study was to employ immunocytochemistry and mutational analysis of the c-kit gene to aid in the diagnosis of GISTs on FNAB.\nMETHODS: Five endoscopic ultrasound-guided FNABs of gastrointestinal spindle cell neoplasms performed at the Veterans Affairs Medical Center (VAMC) in Portland, Oregon, from 1998-1999 were reviewed. A panel of immunocytochemical stains was performed on each cellblock including CD-117 (KIT), smooth muscle actin (SMA), desmin, S-100, and CD34. Genomic DNA (gDNA) was extracted, and amplification of exons 9, 11, 13 and 17 of c-kit was performed by polymerase chain reaction (PCR) on CD-117 (KIT) and CD34 positive cases. Direct sequencing of amplicons identified the mutations.\nRESULTS: Five patients were diagnosed with GISTs based on morphology and immunocytochemical positivity for CD-117 and CD34. PCR analysis of c-kit exon 11 revealed three cases with novel-sized PCR bands in addition to the expected wild-type-sized PCR product. Amplicons from these cases contained an in-frame deletion mutation. One of the two cases with wild-type-;sized exon 11 amplicons was found to be heterozygous for a point mutation producing an amino acid substitution (W557R). No mutations in exon 9, 11, 13, or 17 of c-kit were found in the remaining case.\nCONCLUSIONS: Ancillary techniques such as immunocytochemistry and c-kit gene mutational analysis may aid in the diagnosis of GISTs on FNABs."}