title: A cytogenetic study of 397 consecutive acute myeloid leukemia cases identified three with a t(7;21) associated with 5q abnormalities and exhibiting similar clinical and biological features, suggesting a new, rare acute myeloid leukemia entity.
abstract: The RUNX1 gene is implicated in numerous chromosomal translocations that occur in acute myeloid leukemia (AML) and result in chimeric genes. In this study, 397 consecutive AML cases were analyzed using RUNX1 fluorescence in situ hybridization (FISH) probes. Three cases of the recently described translocation, t(7;21)(p22;q22), were identified, which expressed RUNX1-USP42 (ubiquitin-specific protease 42) fusion transcripts, associated with 5q abnormalities and hyperploidy. These cases displayed homogeneous morphological features (including phagocytosis) and aberrantly expressed CD56 and CD7 lymphoid antigens. Although very few data are available from previously reported cases, when these features are present, a detailed chromosomal analysis, including hybridization with RUNX1 FISH probes, should be performed at diagnosis to recognize chromosomal abnormalities. Additional cases of t(7;21) positive AML should be evaluated to characterize this potentially rare AML entity in greater detail.
authors.affiliation: Genetics Department, Centre Hospitalier de Mulhouse, Mulhouse, France.
authors.forename: Eric
authors.initials: E
authors.lastname: Jeandidier
authors.forename: Carine
authors.initials: C
authors.lastname: Gervais
authors.forename: Isabelle
authors.initials: I
authors.lastname: Radford-Weiss
authors.forename: Estelle
authors.initials: E
authors.lastname: Zink
authors.forename: Catherine
authors.initials: C
authors.lastname: Gangneux
authors.forename: Alice
authors.initials: A
authors.lastname: Eischen
authors.forename: Anne Cécile
authors.initials: AC
authors.lastname: Galoisy
authors.forename: Catherine
authors.initials: C
authors.lastname: Helias
authors.forename: Laurent
authors.initials: L
authors.lastname: Dano
authors.forename: Ornella
authors.initials: O
authors.lastname: Cammarata
authors.forename: Georges
authors.initials: G
authors.lastname: Jung
authors.forename: Inès
authors.initials: I
authors.lastname: Harzallah
authors.forename: Eric
authors.initials: E
authors.lastname: Guérin
authors.forename: Lionel
authors.initials: L
authors.lastname: Martzolff
authors.forename: Bernard
authors.initials: B
authors.lastname: Drénou
authors.forename: Bruno
authors.initials: B
authors.lastname: Lioure
authors.forename: Céline
authors.initials: C
authors.lastname: Tancrédi
authors.forename: Valérie
authors.initials: V
authors.lastname: Rimelen
authors.forename: Laurent
authors.initials: L
authors.lastname: Mauvieux
mesh_terms: D000328:Adult; D002891:Chromosomes, Human, Pair 21; D002895:Chromosomes, Human, Pair 5; D002897:Chromosomes, Human, Pair 7; D006801:Humans; D016130:Immunophenotyping; D017404:In Situ Hybridization, Fluorescence; D015470:Leukemia, Myeloid, Acute / Q000235:genetics*; D008297:Male; D008875:Middle Aged; D014178:Translocation, Genetic