| 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). | |
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MedLine Citation:
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PMID: 23292868 Owner: NLM Status: In-Data-Review |
Abstract/OtherAbstract:
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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). |
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Authors:
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Ayda Bennour; Ikram Tabka; Yosra Ben Youssef; Monia Zaier; Sondess Hizem; Abderrahim Khelif; Ali Saad; Halima Sennana |
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Publication Detail:
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Type: Journal Article Date: 2013-01-06 |
Journal Detail:
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Title: Medical oncology (Northwood, London, England) Volume: 30 ISSN: 1559-131X ISO Abbreviation: Med. Oncol. Publication Date: 2013 Mar |
Date Detail:
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Created Date: 2013-01-07 Completed Date: - Revised Date: - |
Medline Journal Info:
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Nlm Unique ID: 9435512 Medline TA: Med Oncol Country: United States |
Other Details:
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Languages: eng Pagination: 409 Citation Subset: IM |
Affiliation:
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Department of Cytogenetics, Molecular Genetics and Reproductive Biology, Farhat Hached University Teaching Hospital, Sousse, Tunisia, aydabennour@yahoo.fr. |
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From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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