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Unbalanced translocation t(5;17) in an atypical acute promyelocytic leukemia
Author(s) -
Brunel Véronique,
Sainty Danielle,
Carbuccia Nadine,
Arnoulet Christine,
Costello Régis,
Mozziconacci MarieJöelle,
Simonetti Jacqueline,
Coignet Lionel,
Gabert Jean,
Stoppa AnneMarie,
Birg Françoise,
LafagePochitaloff Marina
Publication year - 1995
Publication title -
genes, chromosomes and cancer
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.754
H-Index - 119
eISSN - 1098-2264
pISSN - 1045-2257
DOI - 10.1002/gcc.2870140410
Subject(s) - chromosomal translocation , acute promyelocytic leukemia , fusion gene , fluorescence in situ hybridization , biology , chromosomal rearrangement , karyotype , breakpoint , retinoic acid , gene rearrangement , microbiology and biotechnology , chromosome 15 , promyelocytic leukemia protein , cancer research , retinoic acid receptor alpha , phenotype , leukemia , chromosome , genetics , gene , retinoic acid receptor
Acute promyelocytic leukemia (APL; M3 in the FAB classification) is specifically associated with the t(15;17)(q23;q12) and the consequent formation of a PML/RARA fusion gene. A few cases of APL with a t(11;17)(q23;q12) and a PLZF/RARA fusion gene have recently been reported. In addition, a new variant, t(5;17)(q32;q12), with a RARA rearrangement was described in a child with atypical APL. We report an unbalanced der(5)t(5;17) in an atypical APL case showing unusual dysgranulopoiesis and some M2 features. The breakpoints were difficult to localize precisely on chromosome 5, because the translocation may have occurred on a previous del(5q). The karyotype also showed del(8q) and multiple double‐minutes (dmin). Molecular studies evidenced RARA rearrangement but showed neither PML rearrangement nor PML/RARA fusion. Fluorescence in situ hybridization revealed that the dmin were of chromosome 8 origin and that they accounted for the MYC amplification observed in Southern blots. The patient did very poorly despite chemotherapy and all‐trans retinoic acid (ATRA) treatment. Thus, the t(5;17) could represent a second type of variant translocation in APL that, like the disease associated with t(11;17), does not seem to respond to ATRA therapy. Whereas RARA rearrangement appears sufficient for an APL‐like phenotype, it seems that the presence of a classical PML/RARA is required for typical APL with response to ATRA.