PubMed:9858225 JSONTXT

{"target":"https://pubannotation.org/docs/sourcedb/PubMed/sourceid/9858225","sourcedb":"PubMed","sourceid":"9858225","source_url":"http://www.ncbi.nlm.nih.gov/pubmed/9858225","text":"Systemic mastocytosis associated with acute myeloid leukaemia: report of two cases and detection of the c-kit mutation Asp-816 to Val.\nA subset of patients with systemic mastocytosis (SM) develop acute myeloid leukaemia (AML). However, little is known about the biology of such leukaemias and their relationship to the mast cell (MC) lineage. We report on two female patients who suffered from SM and AML. According to FAB criteria, the leukaemias were classified as AML-M4 (patient 1) and AML-MO (patient 2). The coexistence of the two distinct neoplasms (AML and SM) was demonstrable by immunostaining of serial bone marrow (BM) sections with monoclonal antibodies (mAb). In particular, the MC infiltrates were found to react with mAb against MC-tryptase and MC growth factor receptor c-kit (CD117), but not with mAb to CD15 or CD34. In contrast, the AML blasts were immunoreactive for CD15 (patient 1) or CD34 (patient 2), but did not express tryptase. The c-kit point mutation Asp--\u003eVal at codon 816, considered to play a role in the transformation of MC progenitors, was detected in patient 1 in a BM cell fraction containing 4% MC. However, no c-kit mutation was found in pure AML blasts (\u003c1% MC). These findings argue against an evolution of the AML clone from neoplastic MC or MC-committed progenitors.","tracks":[{"project":"performance-test","denotations":[{"id":"PD-UBERON-AE-B_T1","span":{"begin":614,"end":625},"obj":"http://purl.obolibrary.org/obo/UBERON_0002371"}],"attributes":[{"subj":"PD-UBERON-AE-B_T1","pred":"source","obj":"performance-test"}]},{"project":"PennBioIE","denotations":[{"id":"T1","span":{"begin":104,"end":109},"obj":"protein"},{"id":"T2","span":{"begin":110,"end":118},"obj":"protein"},{"id":"T3","span":{"begin":119,"end":122},"obj":"protein"},{"id":"T4","span":{"begin":123,"end":126},"obj":"protein"},{"id":"T5","span":{"begin":130,"end":133},"obj":"protein"},{"id":"T6","span":{"begin":645,"end":666},"obj":"protein"},{"id":"T7","span":{"begin":668,"end":671},"obj":"protein"},{"id":"T8","span":{"begin":733,"end":736},"obj":"protein"},{"id":"T9","span":{"begin":748,"end":756},"obj":"protein"},{"id":"T10","span":{"begin":761,"end":786},"obj":"protein"},{"id":"T11","span":{"begin":787,"end":792},"obj":"protein"},{"id":"T12","span":{"begin":794,"end":799},"obj":"protein"},{"id":"T13","span":{"begin":815,"end":818},"obj":"protein"},{"id":"T14","span":{"begin":822,"end":826},"obj":"protein"},{"id":"T15","span":{"begin":830,"end":834},"obj":"protein"},{"id":"T16","span":{"begin":888,"end":892},"obj":"protein"},{"id":"T17","span":{"begin":908,"end":912},"obj":"protein"},{"id":"T18","span":{"begin":946,"end":954},"obj":"protein"},{"id":"T19","span":{"begin":960,"end":965},"obj":"protein"},{"id":"T20","span":{"begin":966,"end":980},"obj":"protein"},{"id":"T21","span":{"begin":981,"end":984},"obj":"protein"},{"id":"T22","span":{"begin":987,"end":990},"obj":"protein"},{"id":"T23","span":{"begin":994,"end":1003},"obj":"protein"},{"id":"T24","span":{"begin":1150,"end":1155},"obj":"protein"}],"attributes":[{"subj":"T1","pred":"source","obj":"PennBioIE"},{"subj":"T2","pred":"source","obj":"PennBioIE"},{"subj":"T3","pred":"source","obj":"PennBioIE"},{"subj":"T4","pred":"source","obj":"PennBioIE"},{"subj":"T5","pred":"source","obj":"PennBioIE"},{"subj":"T6","pred":"source","obj":"PennBioIE"},{"subj":"T7","pred":"source","obj":"PennBioIE"},{"subj":"T8","pred":"source","obj":"PennBioIE"},{"subj":"T9","pred":"source","obj":"PennBioIE"},{"subj":"T10","pred":"source","obj":"PennBioIE"},{"subj":"T11","pred":"source","obj":"PennBioIE"},{"subj":"T12","pred":"source","obj":"PennBioIE"},{"subj":"T13","pred":"source","obj":"PennBioIE"},{"subj":"T14","pred":"source","obj":"PennBioIE"},{"subj":"T15","pred":"source","obj":"PennBioIE"},{"subj":"T16","pred":"source","obj":"PennBioIE"},{"subj":"T17","pred":"source","obj":"PennBioIE"},{"subj":"T18","pred":"source","obj":"PennBioIE"},{"subj":"T19","pred":"source","obj":"PennBioIE"},{"subj":"T20","pred":"source","obj":"PennBioIE"},{"subj":"T21","pred":"source","obj":"PennBioIE"},{"subj":"T22","pred":"source","obj":"PennBioIE"},{"subj":"T23","pred":"source","obj":"PennBioIE"},{"subj":"T24","pred":"source","obj":"PennBioIE"}]},{"project":"DisGeNET","denotations":[{"id":"T0","span":{"begin":419,"end":422},"obj":"gene:2187"},{"id":"T1","span":{"begin":467,"end":470},"obj":"disease:C0023467"},{"id":"T2","span":{"begin":419,"end":422},"obj":"gene:2187"},{"id":"T3","span":{"begin":490,"end":493},"obj":"disease:C0023467"}],"relations":[{"id":"R1","pred":"associated_with","subj":"T0","obj":"T1"},{"id":"R2","pred":"associated_with","subj":"T2","obj":"T3"}],"namespaces":[{"prefix":"gene","uri":"http://www.ncbi.nlm.nih.gov/gene/"},{"prefix":"disease","uri":"http://purl.bioontology.org/ontology/MEDLINEPLUS/"}],"attributes":[{"subj":"T0","pred":"source","obj":"DisGeNET"},{"subj":"T1","pred":"source","obj":"DisGeNET"},{"subj":"T2","pred":"source","obj":"DisGeNET"},{"subj":"T3","pred":"source","obj":"DisGeNET"}]},{"project":"sentences","denotations":[{"id":"TextSentencer_T1","span":{"begin":0,"end":134},"obj":"Sentence"},{"id":"TextSentencer_T2","span":{"begin":135,"end":226},"obj":"Sentence"},{"id":"TextSentencer_T3","span":{"begin":227,"end":342},"obj":"Sentence"},{"id":"TextSentencer_T4","span":{"begin":343,"end":405},"obj":"Sentence"},{"id":"TextSentencer_T5","span":{"begin":406,"end":509},"obj":"Sentence"},{"id":"TextSentencer_T6","span":{"begin":510,"end":673},"obj":"Sentence"},{"id":"TextSentencer_T7","span":{"begin":674,"end":835},"obj":"Sentence"},{"id":"TextSentencer_T8","span":{"begin":836,"end":955},"obj":"Sentence"},{"id":"TextSentencer_T9","span":{"begin":956,"end":1137},"obj":"Sentence"},{"id":"TextSentencer_T10","span":{"begin":1138,"end":1203},"obj":"Sentence"},{"id":"TextSentencer_T11","span":{"begin":1204,"end":1310},"obj":"Sentence"},{"id":"T1","span":{"begin":0,"end":134},"obj":"Sentence"},{"id":"T2","span":{"begin":135,"end":226},"obj":"Sentence"},{"id":"T3","span":{"begin":227,"end":342},"obj":"Sentence"},{"id":"T4","span":{"begin":343,"end":405},"obj":"Sentence"},{"id":"T5","span":{"begin":406,"end":509},"obj":"Sentence"},{"id":"T6","span":{"begin":510,"end":673},"obj":"Sentence"},{"id":"T7","span":{"begin":674,"end":835},"obj":"Sentence"},{"id":"T8","span":{"begin":836,"end":955},"obj":"Sentence"},{"id":"T9","span":{"begin":956,"end":1137},"obj":"Sentence"},{"id":"T10","span":{"begin":1138,"end":1203},"obj":"Sentence"},{"id":"T11","span":{"begin":1204,"end":1310},"obj":"Sentence"}],"namespaces":[{"prefix":"_base","uri":"http://pubannotation.org/ontology/tao.owl#"}],"attributes":[{"subj":"TextSentencer_T1","pred":"source","obj":"sentences"},{"subj":"TextSentencer_T2","pred":"source","obj":"sentences"},{"subj":"TextSentencer_T3","pred":"source","obj":"sentences"},{"subj":"TextSentencer_T4","pred":"source","obj":"sentences"},{"subj":"TextSentencer_T5","pred":"source","obj":"sentences"},{"subj":"TextSentencer_T6","pred":"source","obj":"sentences"},{"subj":"TextSentencer_T7","pred":"source","obj":"sentences"},{"subj":"TextSentencer_T8","pred":"source","obj":"sentences"},{"subj":"TextSentencer_T9","pred":"source","obj":"sentences"},{"subj":"TextSentencer_T10","pred":"source","obj":"sentences"},{"subj":"TextSentencer_T11","pred":"source","obj":"sentences"},{"subj":"T1","pred":"source","obj":"sentences"},{"subj":"T2","pred":"source","obj":"sentences"},{"subj":"T3","pred":"source","obj":"sentences"},{"subj":"T4","pred":"source","obj":"sentences"},{"subj":"T5","pred":"source","obj":"sentences"},{"subj":"T6","pred":"source","obj":"sentences"},{"subj":"T7","pred":"source","obj":"sentences"},{"subj":"T8","pred":"source","obj":"sentences"},{"subj":"T9","pred":"source","obj":"sentences"},{"subj":"T10","pred":"source","obj":"sentences"},{"subj":"T11","pred":"source","obj":"sentences"}]},{"project":"UBERON-AE","denotations":[{"id":"PD-UBERON-AE-B_T1","span":{"begin":614,"end":625},"obj":"http://purl.obolibrary.org/obo/UBERON_0002371"}],"attributes":[{"subj":"PD-UBERON-AE-B_T1","pred":"source","obj":"UBERON-AE"}]},{"project":"PubCasesHPO","denotations":[{"id":"TI1","span":{"begin":9,"end":21},"obj":"HP:0100495"},{"id":"AB1","span":{"begin":170,"end":182},"obj":"HP:0100495"},{"id":"AB2","span":{"begin":546,"end":555},"obj":"HP:0002664"}],"attributes":[{"subj":"TI1","pred":"source","obj":"PubCasesHPO"},{"subj":"AB1","pred":"source","obj":"PubCasesHPO"},{"subj":"AB2","pred":"source","obj":"PubCasesHPO"}]},{"project":"PubCasesORDO","denotations":[{"id":"TI1","span":{"begin":119,"end":122},"obj":"ORDO:63442"},{"id":"AB1","span":{"begin":467,"end":473},"obj":"ORDO:517"},{"id":"AB2","span":{"begin":981,"end":984},"obj":"ORDO:63442"}],"namespaces":[{"prefix":"ORDO","uri":"http://www.orpha.net/ORDO/Orphanet_"}],"attributes":[{"subj":"TI1","pred":"source","obj":"PubCasesORDO"},{"subj":"AB1","pred":"source","obj":"PubCasesORDO"},{"subj":"AB2","pred":"source","obj":"PubCasesORDO"}]},{"project":"DisGeNET5_variant_disease","denotations":[{"id":"9858225-0#119#133#geners121913507","span":{"begin":119,"end":133},"obj":"geners121913507"},{"id":"9858225-0#0#21#diseaseC0221013","span":{"begin":0,"end":21},"obj":"diseaseC0221013"},{"id":"9858225-0#38#61#diseaseC0023467","span":{"begin":38,"end":61},"obj":"diseaseC0023467"}],"relations":[{"id":"119#133#geners1219135070#21#diseaseC0221013","pred":"associated_with","subj":"9858225-0#119#133#geners121913507","obj":"9858225-0#0#21#diseaseC0221013"},{"id":"119#133#geners12191350738#61#diseaseC0023467","pred":"associated_with","subj":"9858225-0#119#133#geners121913507","obj":"9858225-0#38#61#diseaseC0023467"}],"attributes":[{"subj":"9858225-0#119#133#geners121913507","pred":"source","obj":"DisGeNET5_variant_disease"},{"subj":"9858225-0#0#21#diseaseC0221013","pred":"source","obj":"DisGeNET5_variant_disease"},{"subj":"9858225-0#38#61#diseaseC0023467","pred":"source","obj":"DisGeNET5_variant_disease"}]},{"project":"DisGeNET5_gene_disease","denotations":[{"id":"9858225-4#13#16#gene2187","span":{"begin":419,"end":422},"obj":"gene2187"},{"id":"9858225-4#61#67#diseaseC0023479","span":{"begin":467,"end":473},"obj":"diseaseC0023479"},{"id":"9858225-4#84#87#diseaseC0023467","span":{"begin":490,"end":493},"obj":"diseaseC0023467"},{"id":"9858225-7#52#56#gene2526","span":{"begin":888,"end":892},"obj":"gene2526"},{"id":"9858225-7#72#76#gene947","span":{"begin":908,"end":912},"obj":"gene947"},{"id":"9858225-7#17#20#diseaseC0023467","span":{"begin":853,"end":856},"obj":"diseaseC0023467"}],"relations":[{"id":"13#16#gene218761#67#diseaseC0023479","pred":"associated_with","subj":"9858225-4#13#16#gene2187","obj":"9858225-4#61#67#diseaseC0023479"},{"id":"13#16#gene218784#87#diseaseC0023467","pred":"associated_with","subj":"9858225-4#13#16#gene2187","obj":"9858225-4#84#87#diseaseC0023467"},{"id":"52#56#gene252617#20#diseaseC0023467","pred":"associated_with","subj":"9858225-7#52#56#gene2526","obj":"9858225-7#17#20#diseaseC0023467"},{"id":"72#76#gene94717#20#diseaseC0023467","pred":"associated_with","subj":"9858225-7#72#76#gene947","obj":"9858225-7#17#20#diseaseC0023467"}],"attributes":[{"subj":"9858225-4#13#16#gene2187","pred":"source","obj":"DisGeNET5_gene_disease"},{"subj":"9858225-4#61#67#diseaseC0023479","pred":"source","obj":"DisGeNET5_gene_disease"},{"subj":"9858225-4#84#87#diseaseC0023467","pred":"source","obj":"DisGeNET5_gene_disease"},{"subj":"9858225-7#52#56#gene2526","pred":"source","obj":"DisGeNET5_gene_disease"},{"subj":"9858225-7#72#76#gene947","pred":"source","obj":"DisGeNET5_gene_disease"},{"subj":"9858225-7#17#20#diseaseC0023467","pred":"source","obj":"DisGeNET5_gene_disease"}]}],"config":{"attribute types":[{"pred":"source","value type":"selection","values":[{"id":"performance-test","color":"#eceb93","default":true},{"id":"PennBioIE","color":"#d193ec"},{"id":"DisGeNET","color":"#93ecb7"},{"id":"sentences","color":"#ec9d93"},{"id":"UBERON-AE","color":"#93a3ec"},{"id":"PubCasesHPO","color":"#bdec93"},{"id":"PubCasesORDO","color":"#ec93d7"},{"id":"DisGeNET5_variant_disease","color":"#93ece7"},{"id":"DisGeNET5_gene_disease","color":"#eccd93"}]}]}}