Author/Authors :
Zaccaria، نويسنده , , Alfonso and Valenti، نويسنده , , Anna and Toschi، نويسنده , , Mila and Salvucci، نويسنده , , Marzia and Cipriani، نويسنده , , Raffaella and Ottaviani، نويسنده , , Emanuela and Martinelli، نويسنده , , Giovanni، نويسنده ,
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.
