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A PML/RARA chimeric gene on chromosome 12 in a patient with acute promyelocytic leukemia (M4) associated with a new variant translocation: t(12;15;17)(q24;q24;q11).
MedLine Citation:
PMID:  23292868     Owner:  NLM     Status:  In-Data-Review    
Acute promyelocytic leukemia (APL) is genetically characterized by a reciprocal translocation between chromosomes 15 and 17, t(15;17)(q22;q21), which results in the fusion gene PML-RARA. A small proportion of patients with APL have complex or simple variants of this translocation. With conventional cytogenetic methods, these translocations are detected in about 70-90 % of patients, with most of the negative results due to technical problems or cryptic variants. Those masked PML/RARA fusions can be identified by molecular analyses such as reverse transcriptase-polymerase chain reaction (RT-PCR) and fluorescence in situ hybridization (FISH). We report the case of a 58-year-old man showing morphological, cytochemical, and immunophenotypic features of hypergranular APL (FAB-M4). PML-RARA transcripts were not evident on RT-PCR. Although cytogenetic tests revealed the presence of an apparently balanced translocation t(15;17)(q24;q11) with an abnormal chromosome 12 that characterized a M3 leukemia. This karyotypic interpretation was confirmed by FISH with the use of painting probes of chromosomes 12, 15, and 17 and a PML-RARA dual-color DNA probe. FISH showed a PML-RARA fusion gene on the der(12) instead of the der(15). The patient was treated with an all-trans retinoic acid (ATRA) plus anthracycline-based protocol and achieved complete remission, with no recurrence to date. These results illustrate the usefulness of combining cytogenetics and FISH methods to evidence the PML/RARA fusion gene in cases with morphologic suspicion of APL with variant or cryptic t(15;17).
Ayda Bennour; Ikram Tabka; Yosra Ben Youssef; Monia Zaier; Sondess Hizem; Abderrahim Khelif; Ali Saad; Halima Sennana
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Publication Detail:
Type:  Journal Article     Date:  2013-01-06
Journal Detail:
Title:  Medical oncology (Northwood, London, England)     Volume:  30     ISSN:  1559-131X     ISO Abbreviation:  Med. Oncol.     Publication Date:  2013 Mar 
Date Detail:
Created Date:  2013-01-07     Completed Date:  -     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  9435512     Medline TA:  Med Oncol     Country:  United States    
Other Details:
Languages:  eng     Pagination:  409     Citation Subset:  IM    
Department of Cytogenetics, Molecular Genetics and Reproductive Biology, Farhat Hached University Teaching Hospital, Sousse, Tunisia,
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