title: Acute myeloid leukemia with t(16;16) (p13;q22) showing a new CBFB-MYH11 fusion transcript associated with an atypical leukemic blasts morphology.
abstract: Acute myeloid leukemia (AML) cases with inv(16)(p13q22) or t(16;16)(p13;q22) are characterized by multiple CBFB-MYH11 fusion transcripts, type A being the most frequent. Rare fusion variants are frequently correlated with an atypical cytomorphology, but their biologic and prognostic significance is unclear. We report a case of acute myeloid leukemia with a balanced t(16;16)(p13;q22) and additional monosomy 13 showing a new CBFB-MYH11 fusion transcript variant. The patient also showed an atypical morphology of bone marrow blasts, since about 15% of all blasts showed bilobed nuclei but there was no pathologic eosinophilia. The biologic and prognostic implications of this rare association are discussed.
authors.affiliation: Department of Emergency and Organ Transplantation (D.E.T.O.), Hematology Section, University of Bari, 70124 Bari, Italy. Electronic address: francesco.albano@uniba.it.
authors.forename: Francesco
authors.initials: F
authors.lastname: Albano
authors.affiliation: Department of Emergency and Organ Transplantation (D.E.T.O.), Hematology Section, University of Bari, 70124 Bari, Italy.
authors.forename: Luisa
authors.initials: L
authors.lastname: Anelli
authors.affiliation: Department of Emergency and Organ Transplantation (D.E.T.O.), Hematology Section, University of Bari, 70124 Bari, Italy.
authors.forename: Antonella
authors.initials: A
authors.lastname: Zagaria
authors.affiliation: Department of Emergency and Organ Transplantation (D.E.T.O.), Hematology Section, University of Bari, 70124 Bari, Italy.
authors.forename: Nicoletta
authors.initials: N
authors.lastname: Coccaro
authors.affiliation: Department of Emergency and Organ Transplantation (D.E.T.O.), Hematology Section, University of Bari, 70124 Bari, Italy.
authors.forename: Giuseppina
authors.initials: G
authors.lastname: Tota
authors.affiliation: Department of Emergency and Organ Transplantation (D.E.T.O.), Hematology Section, University of Bari, 70124 Bari, Italy.
authors.forename: Luciana
authors.initials: L
authors.lastname: Impera
authors.affiliation: Department of Emergency and Organ Transplantation (D.E.T.O.), Hematology Section, University of Bari, 70124 Bari, Italy.
authors.forename: Crescenzio Francesco
authors.initials: CF
authors.lastname: Minervini
authors.affiliation: Department of Emergency and Organ Transplantation (D.E.T.O.), Hematology Section, University of Bari, 70124 Bari, Italy.
authors.forename: Angelo
authors.initials: A
authors.lastname: Cellamare
authors.affiliation: Department of Emergency and Organ Transplantation (D.E.T.O.), Hematology Section, University of Bari, 70124 Bari, Italy.
authors.forename: Mario
authors.initials: M
authors.lastname: Delia
authors.affiliation: Department of Emergency and Organ Transplantation (D.E.T.O.), Hematology Section, University of Bari, 70124 Bari, Italy.
authors.forename: Angela
authors.initials: A
authors.lastname: Minervini
authors.affiliation: Department of Emergency and Organ Transplantation (D.E.T.O.), Hematology Section, University of Bari, 70124 Bari, Italy.
authors.forename: Paola
authors.initials: P
authors.lastname: Casieri
authors.affiliation: Department of Emergency and Organ Transplantation (D.E.T.O.), Hematology Section, University of Bari, 70124 Bari, Italy.
authors.forename: Giorgina
authors.initials: G
authors.lastname: Specchia
mesh_terms: D007446:Chromosome Inversion; D002885:Chromosomes, Human, Pair 16; D050658:Core Binding Factor beta Subunit / Q000235:genetics*; D005260:Female; D006801:Humans; D015470:Leukemia, Myeloid, Acute / Q000235:genetics* / Q000473:pathology; D008875:Middle Aged; D018995:Myosin Heavy Chains / Q000235:genetics*; D015514:Oncogene Proteins, Fusion / Q000235:genetics*
chemical_list: D050658:Core Binding Factor beta Subunit; C509903:MYH11 protein, human; D015514:Oncogene Proteins, Fusion; D018995:Myosin Heavy Chains
keywords: Bilobed leukemic blast; CBFB-MYH11 fusion gene; Fusion transcript variants; t(16;16)