A novel t(4;16)(q25;q23.1) associated with EGF and ELOVL6 deregulation in acute myeloid leukemia |
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| Authors: | Luisa Anelli Antonella ZagariaNicoletta Coccaro Giuseppina TotaLuciana Impera Crescenzio Francesco MinerviniDomenico Pastore Angela MinerviniPaola Casieri Giorgina SpecchiaFrancesco Albano |
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| Affiliation: | Department of Emergency and Organ Transplantation (D.E.T.O.), Hematology Section, University of Bari, 70124 Bari, Italy |
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| Abstract: | About 50% of acute myeloid leukemia (AML) patients show the occurrence of non-random chromosome rearrangements. Most of the recurrent karyotypic rearrangements in AML have been defined as distinct disease entities in the 2008 World Health Organization (WHO) classification. In this paper we report an AML case showing a novel t(4;16)(q25;q23.1) rearrangement causing the activation of epidermal growth factor (EGF) and elongation of long-chain fatty acids family member 6 (ELOVL6) genes, rather than the generation of a novel fusion gene. |
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| Keywords: | AML, Acute myeloid leukemia WHO, World Health Organization FLT3, fms-related tyrosine kinase 3 NPM1, nucleophosmin RAS, v-Ha-ras Harvey rat sarcoma viral oncogene homolog WT1, Wilms tumor 1 AML1, acute myeloid leukemia 1 FAB, French-American-British Cooperative Group AML NOS, AML not otherwise specified EGF, Epidermal growth factor ELOVL6, elongation of long-chain fatty acids family member 6 BM, bone marrow cells ISCN, International System for Human Cytogenetic Nomenclature FISH, Fluorescence in situ hybridization BAC, bacterial artificial chromosome UCSC, University of California Santa Cruz qRT-PCR, quantitative real-time PCR β-GUS, β-glucuronidase ASO-PCR, allele specific oligonucleotide-polymerase chain reaction |
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