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  • Title: Cryptic translocation of PML/RARA on 17q. A rare event in acute promyelocytic leukemia.
    Author: Zaccaria A, Valenti A, Toschi M, Salvucci M, Cipriani R, Ottaviani E, Martinelli G.
    Journal: Cancer Genet Cytogenet; 2002 Oct 15; 138(2):169-73. PubMed ID: 12505266.
    Abstract:
    Cryptic translocations in acute promyelocytic leukemia are rare. Usually the gene fusion PML/RARA is located on chromosome 15. Combined cytogenetic, fluorescence in situ hybridization (FISH), and molecular (polymerase chain reaction [PCR]) analysis were employed for the diagnosis and precise localization of the fusion gene. Conventional cytogenetics showed a normal karyotype; PCR showed a typical PML/RARA rearrangement in exon 1. FISH analysis revealed that a submicroscopic part of chromosome 15 had been inserted into 17q. This case adds further information on alternative ways of rearrangement of the PML/RARA genes, possibly correlated with all-trans retinoic acid resistance.
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