PubMed:10800163 JSONTXT

{"target":"https://pubannotation.org/docs/sourcedb/PubMed/sourceid/10800163","sourcedb":"PubMed","sourceid":"10800163","source_url":"http://www.ncbi.nlm.nih.gov/pubmed/10800163","text":"Detection of inv(16) and t(16;16) by fluorescence in situ hybridization in acute myeloid leukemia M4Eo.\nBACKGROUND AND OBJECTIVE: It has been established that cytogenetic findings at the time of diagnosis of acute myeloid leukemia (AML) are powerful prognostic indicators. Pericentric inversion of chromosome 16 and translocation t(16;16) resulting in chimeric fusion of CBFB and MYH11 genes are typically seen in the M4-Eo FAB classification subset of AML and are associated with low-risk disease. These subtle chromosomal abnormalities may be difficult to detect in poor-quality metaphase preparations and if missed could lead to incorrect assignment to risk groups and influence the therapy decision-making process.\nDESIGN AND METHODS: We prospectively studied, at diagnosis, 10 patients with AML-M4 Eo by cytogenetics and fluorescent in situ hybridization (FISH) with two cosmids (36 and 40). As a control group, 7 patients (5 with a diagnosis of AML other than M4 Eo and two cases of reactive eosinophilia) were analyzed. In addition reverse transcriptase chain reaction (RT-PCR) studies were carried out in 6 cases.\nRESULTS: Karyotypic analysis detected the inv(16) in all but one of the patients with M4-Eo while none of the control cases showed any abnormality on chromosome 16. FISH studies showed that all 10 patients had abnormalities on chromosome 16; the patient with normal karyotype showed an inv(16) by FISH, while a case with inv(16) by cytogenetics had a t(16;16) by FISH. RT-PCR demonstrated amplification of the CBFB/MYH11 product in all cases analyzed.\nINTERPRETATION AND CONCLUSIONS: In patients with M4Eo and rearrangements of chromosome 16, FISH studies may afford more complete information than conventional cytogenetics and can be an alternative to RT-PCR studies.","tracks":[{"project":"PubmedHPO","denotations":[{"id":"T1","span":{"begin":208,"end":230},"obj":"HP_0004808"},{"id":"T2","span":{"begin":214,"end":230},"obj":"HP_0012324"},{"id":"T3","span":{"begin":222,"end":230},"obj":"HP_0001909"}],"attributes":[{"subj":"T1","pred":"source","obj":"PubmedHPO"},{"subj":"T2","pred":"source","obj":"PubmedHPO"},{"subj":"T3","pred":"source","obj":"PubmedHPO"}]},{"project":"DisGeNET","denotations":[{"id":"T0","span":{"begin":371,"end":375},"obj":"gene:865"},{"id":"T1","span":{"begin":453,"end":456},"obj":"disease:C0023467"},{"id":"T2","span":{"begin":380,"end":385},"obj":"gene:4629"},{"id":"T3","span":{"begin":453,"end":456},"obj":"disease:C0023467"},{"id":"T4","span":{"begin":424,"end":427},"obj":"gene:2187"},{"id":"T5","span":{"begin":453,"end":456},"obj":"disease:C0023467"}],"relations":[{"id":"R1","pred":"associated_with","subj":"T0","obj":"T1"},{"id":"R2","pred":"associated_with","subj":"T2","obj":"T3"},{"id":"R3","pred":"associated_with","subj":"T4","obj":"T5"}],"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"},{"subj":"T4","pred":"source","obj":"DisGeNET"},{"subj":"T5","pred":"source","obj":"DisGeNET"}]},{"project":"DisGeNET5_gene_disease","denotations":[{"id":"10800163-2#98#102#gene865","span":{"begin":371,"end":375},"obj":"gene865"},{"id":"10800163-2#107#112#gene4629","span":{"begin":380,"end":385},"obj":"gene4629"},{"id":"10800163-2#151#154#gene2187","span":{"begin":424,"end":427},"obj":"gene2187"},{"id":"10800163-2#180#183#diseaseC0023467","span":{"begin":453,"end":456},"obj":"diseaseC0023467"}],"relations":[{"id":"98#102#gene865180#183#diseaseC0023467","pred":"associated_with","subj":"10800163-2#98#102#gene865","obj":"10800163-2#180#183#diseaseC0023467"},{"id":"107#112#gene4629180#183#diseaseC0023467","pred":"associated_with","subj":"10800163-2#107#112#gene4629","obj":"10800163-2#180#183#diseaseC0023467"},{"id":"151#154#gene2187180#183#diseaseC0023467","pred":"associated_with","subj":"10800163-2#151#154#gene2187","obj":"10800163-2#180#183#diseaseC0023467"}],"attributes":[{"subj":"10800163-2#98#102#gene865","pred":"source","obj":"DisGeNET5_gene_disease"},{"subj":"10800163-2#107#112#gene4629","pred":"source","obj":"DisGeNET5_gene_disease"},{"subj":"10800163-2#151#154#gene2187","pred":"source","obj":"DisGeNET5_gene_disease"},{"subj":"10800163-2#180#183#diseaseC0023467","pred":"source","obj":"DisGeNET5_gene_disease"}]},{"project":"PubMed_Structured_Abstracts","denotations":[{"id":"T1","span":{"begin":130,"end":718},"obj":"OBJECTIVE"},{"id":"T2","span":{"begin":739,"end":1121},"obj":"METHODS"},{"id":"T3","span":{"begin":1131,"end":1573},"obj":"RESULTS"},{"id":"T4","span":{"begin":1606,"end":1790},"obj":"CONCLUSIONS"}],"attributes":[{"subj":"T1","pred":"source","obj":"PubMed_Structured_Abstracts"},{"subj":"T2","pred":"source","obj":"PubMed_Structured_Abstracts"},{"subj":"T3","pred":"source","obj":"PubMed_Structured_Abstracts"},{"subj":"T4","pred":"source","obj":"PubMed_Structured_Abstracts"}]}],"config":{"attribute types":[{"pred":"source","value type":"selection","values":[{"id":"PubmedHPO","color":"#a693ec","default":true},{"id":"DisGeNET","color":"#99ec93"},{"id":"DisGeNET5_gene_disease","color":"#ec93b3"},{"id":"PubMed_Structured_Abstracts","color":"#93cdec"}]}]}}