t(5;17)(q35;q21) NPM1/RARA

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URI: http://hdl.handle.net/2042/69011  |   DOI : https://doi.org/10.4267/2042/69011
Title: t(5;17)(q35;q21) NPM1/RARA
Author: Zamecnikova, Adriana; al Bahar, Soad
Abstract: Acute promyelocytic leukemia (APL) is characterized by distinct clinical and biological features and by the reciprocal translocation t(15;17)(q22;q21)in the majority of patients. The translocation generates the fusion of the promyelocytic leukemia (PML) gene to the gene for retinoic acid receptor alpha (RARA) and these patients are responsive to differentiation treatment with all-trans retinoic acid (ATRA). Rare cases of patients with a morphological diagnosis of APL have variant chromosome translocations, which fuse RARA gene with partner genes other than PML, such as in the variant translocation t(5;17)(q35;q21) that fuses the N-terminus of nucleophosmin (NPM1) gene at 5q35 to the retinoic acid receptor alpha at 17q21.
Subject: Chromosome 5; chromosome 17; Acute myeloid leukaemia; Acute promyelocytic leukemia; RARA; NPM1; Leukaemia Section; Cell Nucleolus/pathology/ultrastructure; Cell Nucleus/ultrastructure; Chromatin/pathology/ultrastructure; Exons/genetics; *Gene Fusion; Granulocyte Precursor Cells/cytology; Humans; Induction Chemotherapy; Leukemia, Promyelocytic, Acute/drug therapy/*genetics/*pathology; Magnetic Resonance Imaging; Male; Microscopy, Electron; Middle Aged; Nuclear Proteins/*genetics; Receptors, Retinoic Acid/*genetics; Retinoic Acid Receptor alpha; Reverse Transcriptase Polymerase Chain Reaction; Sarcoma, Myeloid/diagnosis/therapy; Tretinoin/therapeutic use; Aged; Antineoplastic Agents/*therapeutic use
Publisher: ARMGHM - Atlas Génétique des Cancers
Date: 2017

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