TY - JOUR
T1 - Diagnostic value of detecting fusion proteins derived from chromosome translocations in acute leukemia
AU - Lo-Coco, Francesco
AU - Breccia, Massimo
AU - Noguera, Nélida
AU - Miller, Wilson H.
PY - 2003
Y1 - 2003
N2 - Clonal chromosomal abnormalities such as balanced translocations are characteristic features of several human leukaemias and have long been detected by conventional cytogenetics on banded metaphases. The advent of molecular biology techniques, advanced karyotyping and immunohistochemistry methods has not only allowed identification of gene involvement at altered chromosome sites and better knowledge of leukaemia pathogenesis, but also contributed important improvements in diagnosis of these heterogeneous diseases. Such novel diagnostic strategies are nowadays being increasingly used to improve leukaemia classification, and in several instances, they help to establish the most appropriate therapeutic strategy in individual patients. Moreover, at least two leukaemia-associated fusion proteins derived from chromosome translocation are specifically targeted by therapeutic approaches which result in significantly increased anti-leukaemia efficacy and reduced toxicity. In this chapter, we highlight the importance of identifying these genetic lesions at diagnosis in acute leukaemia. Further, we discuss briefly the clinical utility of detecting these alterations for prognostic assessment and evaluation of response to treatment.
AB - Clonal chromosomal abnormalities such as balanced translocations are characteristic features of several human leukaemias and have long been detected by conventional cytogenetics on banded metaphases. The advent of molecular biology techniques, advanced karyotyping and immunohistochemistry methods has not only allowed identification of gene involvement at altered chromosome sites and better knowledge of leukaemia pathogenesis, but also contributed important improvements in diagnosis of these heterogeneous diseases. Such novel diagnostic strategies are nowadays being increasingly used to improve leukaemia classification, and in several instances, they help to establish the most appropriate therapeutic strategy in individual patients. Moreover, at least two leukaemia-associated fusion proteins derived from chromosome translocation are specifically targeted by therapeutic approaches which result in significantly increased anti-leukaemia efficacy and reduced toxicity. In this chapter, we highlight the importance of identifying these genetic lesions at diagnosis in acute leukaemia. Further, we discuss briefly the clinical utility of detecting these alterations for prognostic assessment and evaluation of response to treatment.
KW - Acute leukaemia
KW - Chromosome translocations
KW - Fusion genes
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U2 - 10.1016/S1521-6926(03)00072-0
DO - 10.1016/S1521-6926(03)00072-0
M3 - Article
C2 - 14592649
AN - SCOPUS:0242437941
VL - 16
SP - 653
EP - 670
JO - Best Practice and Research in Clinical Haematology
JF - Best Practice and Research in Clinical Haematology
SN - 1521-6926
IS - 4
ER -