PubMed:9886332 JSONTXT

{"project":"DisGeNET","denotations":[{"id":"T0","span":{"begin":164,"end":177},"obj":"gene:4869"},{"id":"T1","span":{"begin":323,"end":338},"obj":"disease:C0079731"},{"id":"T2","span":{"begin":231,"end":234},"obj":"gene:238"},{"id":"T3","span":{"begin":323,"end":338},"obj":"disease:C0079731"},{"id":"T4","span":{"begin":267,"end":271},"obj":"gene:943"},{"id":"T5","span":{"begin":323,"end":338},"obj":"disease:C0079731"}],"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/"}],"text":"Detection of the t(2;5)-associated NPM/ALK fusion cDNA in peripheral blood cells of healthy individuals.\nThe translocation t(2;5), which leads to the fusion of the nucleophosmin gene (NPM) on chromosome 5q35 to the receptor kinase ALK on chromosome 2p23, is found in CD30+ anaplastic large cell lymphomas and some cases of B-cell lymphoma. Hodgkin's disease (HD) is a malignant lymphoma characterized by large multinucleated tumour cells, Hodgkin and Reed-Sternberg (H\u0026RS) cells, surrounded by a dense lymphohistiocytic infiltrate. Our group recently demonstrated NPM/ALK fusion cDNAs by single-cell RT-PCR in \u003c 3% of CD30+ tumour cells in 2/9 cases of HD. To further delineate the relevance of this finding for HD, we studied the occurrence of NPM/ALK fusion genes in peripheral blood cells of healthy donors by RT-PCR. NPM/ALK fusion cDNAs were found by RT-PCR in 14/29 healthy individuals and confirmed by hybridization with a breakpoint-specific oligonucleotide. Due to the low rate of NPM/ALK-positive cells in the peripheral blood of positive individuals, an assignment to a defined cellular subpopulation was not possible. We conclude that NPM/ALK fusion genes are present in peripheral blood cells of healthy donors. After t(14;18) and t(9;22), t(2;5) represents the third example of tumour-associated translocation products in blood cells of apparently healthy donors. The implications of this finding are discussed."}

{"project":"DisGeNET5_gene_disease","denotations":[{"id":"9886332-3#36#39#gene238","span":{"begin":568,"end":571},"obj":"gene238"},{"id":"9886332-1#59#72#gene4869","span":{"begin":164,"end":177},"obj":"gene4869"},{"id":"9886332-1#162#166#gene943","span":{"begin":267,"end":271},"obj":"gene943"},{"id":"9886332-1#168#199#diseaseC0206180","span":{"begin":273,"end":304},"obj":"diseaseC0206180"},{"id":"9886332-1#218#233#diseaseC0079731","span":{"begin":323,"end":338},"obj":"diseaseC0079731"},{"id":"9886332-1#168#199#diseaseC0206180","span":{"begin":273,"end":304},"obj":"diseaseC0206180"},{"id":"9886332-3#121#123#diseaseC0019829","span":{"begin":653,"end":655},"obj":"diseaseC0019829"}],"relations":[{"id":"59#72#gene4869168#199#diseaseC0206180","pred":"associated_with","subj":"9886332-1#59#72#gene4869","obj":"9886332-1#168#199#diseaseC0206180"},{"id":"59#72#gene4869218#233#diseaseC0079731","pred":"associated_with","subj":"9886332-1#59#72#gene4869","obj":"9886332-1#218#233#diseaseC0079731"},{"id":"59#72#gene4869168#199#diseaseC0206180","pred":"associated_with","subj":"9886332-1#59#72#gene4869","obj":"9886332-1#168#199#diseaseC0206180"},{"id":"162#166#gene943168#199#diseaseC0206180","pred":"associated_with","subj":"9886332-1#162#166#gene943","obj":"9886332-1#168#199#diseaseC0206180"},{"id":"162#166#gene943218#233#diseaseC0079731","pred":"associated_with","subj":"9886332-1#162#166#gene943","obj":"9886332-1#218#233#diseaseC0079731"},{"id":"162#166#gene943168#199#diseaseC0206180","pred":"associated_with","subj":"9886332-1#162#166#gene943","obj":"9886332-1#168#199#diseaseC0206180"},{"id":"36#39#gene238121#123#diseaseC0019829","pred":"associated_with","subj":"9886332-3#36#39#gene238","obj":"9886332-3#121#123#diseaseC0019829"}],"text":"Detection of the t(2;5)-associated NPM/ALK fusion cDNA in peripheral blood cells of healthy individuals.\nThe translocation t(2;5), which leads to the fusion of the nucleophosmin gene (NPM) on chromosome 5q35 to the receptor kinase ALK on chromosome 2p23, is found in CD30+ anaplastic large cell lymphomas and some cases of B-cell lymphoma. Hodgkin's disease (HD) is a malignant lymphoma characterized by large multinucleated tumour cells, Hodgkin and Reed-Sternberg (H\u0026RS) cells, surrounded by a dense lymphohistiocytic infiltrate. Our group recently demonstrated NPM/ALK fusion cDNAs by single-cell RT-PCR in \u003c 3% of CD30+ tumour cells in 2/9 cases of HD. To further delineate the relevance of this finding for HD, we studied the occurrence of NPM/ALK fusion genes in peripheral blood cells of healthy donors by RT-PCR. NPM/ALK fusion cDNAs were found by RT-PCR in 14/29 healthy individuals and confirmed by hybridization with a breakpoint-specific oligonucleotide. Due to the low rate of NPM/ALK-positive cells in the peripheral blood of positive individuals, an assignment to a defined cellular subpopulation was not possible. We conclude that NPM/ALK fusion genes are present in peripheral blood cells of healthy donors. After t(14;18) and t(9;22), t(2;5) represents the third example of tumour-associated translocation products in blood cells of apparently healthy donors. The implications of this finding are discussed."}