Acute promyelocytic leukaemia and the t(15;17) translocation.
Acute promyelocytic leukaemia (APL) is a rare acute myeloid leukaemia characterized by a distinctive coagulopathy, the differentiation of promyelocytes in response to all-trans retinoic acid and a reciprocal chromosomal translocation, t(15;17)(q22;q12-q21). Molecular analysis of the APL breakpoint has revealed the involvement of the retinoic acid receptor alpha (RARA) gene on chromosome 17 and the promyelocytic leukaemia (PML) gene on chromosome 15. Both reciprocal fusion products which arise as a result of the translocation, PML/RAR alpha and RAR alpha/PML, are expressed in many patients. PML/RAR alpha, is implicated in leukaemogenesis, and may block myeloid differentiation directly and/or interfere with the normal function(s) of PML and/or RAR alpha.
Gillard
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Somatic Cell Genetics Laboratory, Imperial Cancer Research Fund, London.
Solomon
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D000595:Amino Acid Sequence; D000971:Antineoplastic Combined Chemotherapy Protocols / Q000627:therapeutic use; D001483:Base Sequence; D002454:Cell Differentiation / Q000187:drug effects / Q000235:genetics; D002884:Chromosomes, Human, Pair 15 / Q000648:ultrastructure*; D002886:Chromosomes, Human, Pair 17 / Q000648:ultrastructure*; D003001:Cloning, Molecular; D003131:Combined Modality Therapy; D015973:Gene Expression Regulation, Leukemic; D015321:Gene Rearrangement; D006801:Humans; D007155:Immunologic Factors / Q000627:therapeutic use; D015473:Leukemia, Promyelocytic, Acute / Q000175:diagnosis / Q000235:genetics* / Q000628:therapy; D008969:Molecular Sequence Data; D009363:Neoplasm Proteins; D009687:Nuclear Proteins; D015514:Oncogene Proteins, Fusion / Q000235:genetics / Q000502:physiology; D009857:Oncogenes; D016133:Polymerase Chain Reaction; D000071156:Promyelocytic Leukemia Protein; D018168:Receptors, Retinoic Acid / Q000235:genetics*; D012074:Remission Induction; D000072482:Retinoic Acid Receptor alpha; D014157:Transcription Factors / Q000235:genetics*; D014178:Translocation, Genetic; D014212:Tretinoin / Q000378:metabolism / Q000494:pharmacology / Q000627:therapeutic use; D025521:Tumor Suppressor Proteins; D016335:Zinc Fingers / Q000235:genetics
D007155:Immunologic Factors; D009363:Neoplasm Proteins; D009687:Nuclear Proteins; D015514:Oncogene Proteins, Fusion; D000071156:Promyelocytic Leukemia Protein; C000607071:RARA protein, human; D018168:Receptors, Retinoic Acid; D000072482:Retinoic Acid Receptor alpha; D014157:Transcription Factors; D025521:Tumor Suppressor Proteins; C070576:PML protein, human; D014212:Tretinoin