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Cancer Genet Cytogenet. 2002 Oct 15;138(2):169-73.

Cryptic translocation of PML/RARA on 17q. A rare event in acute promyelocytic leukemia.

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Hematology Unit, Santa Maria delle Croci Hospital, Viale Randi 5, 48100, Ravenna, Italy.


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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