A novel t(4;16)(q25;q23.1) associated with EGF and ELOVL6 deregulation in acute myeloid leukemia.
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.
Department of Emergency and Organ Transplantation (D.E.T.O.), Hematology Section, University of Bari, 70124 Bari, Italy.
Luisa
L
Anelli
Antonella
A
Zagaria
Nicoletta
N
Coccaro
Giuseppina
G
Tota
Luciana
L
Impera
Crescenzio Francesco
CF
Minervini
Domenico
D
Pastore
Angela
A
Minervini
Paola
P
Casieri
Giorgina
G
Specchia
Francesco
F
Albano
D000123:Acetyltransferases / Q000235:genetics*; D000328:Adult; D002869:Chromosome Aberrations; D002874:Chromosome Mapping; D002885:Chromosomes, Human, Pair 16 / Q000235:genetics; D002894:Chromosomes, Human, Pair 4 / Q000235:genetics; D004815:Epidermal Growth Factor / Q000235:genetics*; D000081031:Fatty Acid Elongases; D050939:Gene Fusion; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007621:Karyotyping; D015470:Leukemia, Myeloid, Acute / Q000235:genetics*; D008297:Male; D000090243:Nucleophosmin; D014178:Translocation, Genetic
C000630955:ELOVL6 protein, human; C000716967:NPM1 protein, human; D000090243:Nucleophosmin; D004815:Epidermal Growth Factor; D000123:Acetyltransferases; D000081031:Fatty Acid Elongases
AML; AML NOS; AML not otherwise specified; AML1; ASO-PCR; Acute myeloid leukemia; BAC; BM; Cell proliferation; EGF; ELOVL6; Epidermal growth factor; FAB; FISH; FLT3; Fluorescence in situ hybridization; French-American-British Cooperative Group; ISCN; International System for Human Cytogenetic Nomenclature; Karyotypic analysis; NPM1; Novel chromosomal rearrangements; RAS; UCSC; University of California Santa Cruz; WHO; WT1; Wilms tumor 1; World Health Organization; acute myeloid leukemia 1; allele specific oligonucleotide-polymerase chain reaction; bacterial artificial chromosome; bone marrow cells; elongation of long-chain fatty acids family member 6; fms-related tyrosine kinase 3; nucleophosmin; qRT-PCR; quantitative real-time PCR; v-Ha-ras Harvey rat sarcoma viral oncogene homolog; β-GUS; β-glucuronidase