BACKGROUND: Chromosomal abnormalities, such as t(9;22)(q34;q11) (ABL/BCR), t(12;21)(p13;q22) (TEL/AML1), and t(11q23) (MLL) are independent prognostic indicators in childhood acute lymphoblastic leukemia resulting in risk adapted therapy. Accurate and rapid detection of these abnormalities is mandatory, which is achieved by karyotyping, fluorescence in situ hybridization, and real time quantitative reverse transcriptase polymerase chain reaction (RQ-PCR). For cost-effective diagnostic approaches knowledge of diagnostic accuracy of these tests is required. Therefore, we aimed to determine the diagnostic accuracy of karyotyping, fluorescence in situ hybridization, and RQ-PCR analysis. PROCEDURE: Retrospective study conducted between January 1, 1992 and January 1, 2007 in the Emma Children Hospital in Amsterdam. All consecutive patients under 18 years with acute lymphoblastic leukaemia were included. Diagnostic tests were performed according to international standards. RESULTS: Diagnostic techniques show a high-reciprocal agreement and have a high-individual diagnostic accuracy in detecting the above-mentioned chromosomal translocations. However, the sensitivity of karyotyping for detecting the TEL-AML1 fusion gene and the sensitivity of RQ-PCR for detecting MLL-rearrangements was rather low. CONCLUSIONS: Diagnostic accuracy of tests for detecting t(9;22), t(12;21), and t(11q23) is generally high, although sensitivity is not optimal for all anomalies. Despite the high-diagnostic accuracy, all diagnostic techniques should be used complementary, because any detection of a (significant) chromosomal aberration irrespective of diagnostic mode has to be considered in therapy.
BACKGROUND:Chromosomal abnormalities, such as t(9;22)(q34;q11) (ABL/BCR), t(12;21)(p13;q22) (TEL/AML1), and t(11q23) (MLL) are independent prognostic indicators in childhood acute lymphoblastic leukemia resulting in risk adapted therapy. Accurate and rapid detection of these abnormalities is mandatory, which is achieved by karyotyping, fluorescence in situ hybridization, and real time quantitative reverse transcriptase polymerase chain reaction (RQ-PCR). For cost-effective diagnostic approaches knowledge of diagnostic accuracy of these tests is required. Therefore, we aimed to determine the diagnostic accuracy of karyotyping, fluorescence in situ hybridization, and RQ-PCR analysis. PROCEDURE: Retrospective study conducted between January 1, 1992 and January 1, 2007 in the Emma Children Hospital in Amsterdam. All consecutive patients under 18 years with acute lymphoblastic leukaemia were included. Diagnostic tests were performed according to international standards. RESULTS: Diagnostic techniques show a high-reciprocal agreement and have a high-individual diagnostic accuracy in detecting the above-mentioned chromosomal translocations. However, the sensitivity of karyotyping for detecting the TEL-AML1 fusion gene and the sensitivity of RQ-PCR for detecting MLL-rearrangements was rather low. CONCLUSIONS: Diagnostic accuracy of tests for detecting t(9;22), t(12;21), and t(11q23) is generally high, although sensitivity is not optimal for all anomalies. Despite the high-diagnostic accuracy, all diagnostic techniques should be used complementary, because any detection of a (significant) chromosomal aberration irrespective of diagnostic mode has to be considered in therapy.
Authors: Mariela C Coccé; Cristina N Alonso; Jorge G Rossi; Andrea R Bernasconi; Maria A Rampazzi; Maria S Felice; Patricia L Rubio; Silvia Eandi Eberle; Adriana Medina; Marta S Gallego Journal: Mol Syndromol Date: 2015-10-07
Authors: Anh Nhi Tran; Fulya Taylan; Vasilios Zachariadis; Ingegerd Ivanov Öfverholm; Anna Lindstrand; Francesco Vezzi; Britta Lötstedt; Magnus Nordenskjöld; Ann Nordgren; Daniel Nilsson; Gisela Barbany Journal: PLoS One Date: 2018-03-12 Impact factor: 3.240
Authors: Duncan Baker; Adam J Hirst; Paul J Gokhale; Miguel A Juarez; Steve Williams; Mark Wheeler; Kerry Bean; Thomas F Allison; Harry D Moore; Peter W Andrews; Ivana Barbaric Journal: Stem Cell Reports Date: 2016-11-08 Impact factor: 7.765