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PML/RARα rearrangement in acute promyelocytic leukaemia with t(1;17) elucidated using fluorescence in situ hybridization
Author(s) -
Eclache Virginie,
Benzacken Brigitte,
Le Roux Genevieve,
Casassus Philippe,
Chomienne Christine
Publication year - 1997
Publication title -
british journal of haematology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.907
H-Index - 186
eISSN - 1365-2141
pISSN - 0007-1048
DOI - 10.1046/j.1365-2141.1997.2253042.x
Subject(s) - fluorescence in situ hybridization , chromosomal translocation , acute promyelocytic leukemia , cytogenetics , retinoic acid , in situ hybridization , biology , fusion gene , cancer research , in situ , promyelocytic leukemia protein , microbiology and biotechnology , gene rearrangement , chemotherapy , chromosome , gene , genetics , chemistry , gene expression , organic chemistry
Acute promyelocytic leukaemia (APL) is characterized by t(15;17)(q22;q21) which results in the formation of two chimaeric genes, PML/RARα and RARα/PML, thought to play a role in leukaemogenesis. We report a case of a patient with APL apparently lacking the t(15;17) but with t(1;17) translocation identified by fluorescence in situ hybridization (FISH). Chromosome 15 seemed intact but PML/RARα fusion transcript was detected by molecular analysis. The patient achieved complete remission with all‐ trans retinoic acid treatment associated with chemotherapy. This case illustrates the usefulness of combined cytogenetics, FISH and molecular biology in cases with no evident t(15;17) to predict response to treatment.