title: Acute myeloid leukemia with translocation t(8;16) presents with features which mimic acute promyelocytic leukemia and is associated with poor prognosis.
abstract: Previous small series have suggested that acute myeloid leukemia with t(8;16) is a distinct morphologic and clinical entity associated with poor prognosis. We describe 18 patients with t(8;16) AML, including their clinical, cytomorphologic, immunophenotypic and cytogenetic features. Half of the patients had extramedullary disease, most commonly leukemia cutis, which often preceded bone marrow involvement and six had therapy-related AML. Patients with t(8;16) AML commonly present with clinical and pathological features that mimic APL, with promyelocytes and promyeloblast-like cells and coagulopathy in most patients. Several patients also presented with marrow histiocytes with hemophagocytosis and erythrophagocytosis. Comprehensive molecular analysis for co-occurring genetic alterations revealed a somatic mutation in RUNX1 in 1 of 6 t(8;16) patients with no known AML mutation in the remaining five t(8;16) patients. This suggests that the t(8;16) translocation could be sufficient to induce hematopoietic cell transformation to AML without acquiring other genetic alteration. These data further support classifying t(8;16) AML as a clinically and molecularly defined subtype of AML marked by characteristic clinical and cytomorphologic features that mimic APL, and is associated with very poor survival.
authors.affiliation: Leukemia Service, Department of Medicine, Memorial Sloan-Kettering Cancer Center, New York, NY 10021, USA. diaba@mskcc.org
authors.forename: Adi
authors.initials: A
authors.lastname: Diab
authors.forename: Lynette
authors.initials: L
authors.lastname: Zickl
authors.forename: Omar
authors.initials: O
authors.lastname: Abdel-Wahab
authors.forename: Suresh
authors.initials: S
authors.lastname: Jhanwar
authors.forename: Manjit A
authors.initials: MA
authors.lastname: Gulam
authors.forename: Katherine S
authors.initials: KS
authors.lastname: Panageas
authors.forename: Jay P
authors.initials: JP
authors.lastname: Patel
authors.forename: Joseph
authors.initials: J
authors.lastname: Jurcic
authors.forename: Peter
authors.initials: P
authors.lastname: Maslak
authors.forename: Elisabeth
authors.initials: E
authors.lastname: Paietta
authors.forename: James K
authors.initials: JK
authors.lastname: Mangan
authors.forename: Martin
authors.initials: M
authors.lastname: Carroll
authors.forename: Hugo F
authors.initials: HF
authors.lastname: Fernandez
authors.forename: Julie
authors.initials: J
authors.lastname: Teruya-Feldstein
authors.forename: Selina M
authors.initials: SM
authors.lastname: Luger
authors.forename: Dan
authors.initials: D
authors.lastname: Douer
authors.forename: Mark R
authors.initials: MR
authors.lastname: Litzow
authors.forename: Hillard M
authors.initials: HM
authors.lastname: Lazarus
authors.forename: Jacob M
authors.initials: JM
authors.lastname: Rowe
authors.forename: Ross L
authors.initials: RL
authors.lastname: Levine
authors.forename: Martin S
authors.initials: MS
authors.lastname: Tallman
mesh_terms: D000328:Adult; D000368:Aged; D002885:Chromosomes, Human, Pair 16; D002898:Chromosomes, Human, Pair 8; D050676:Core Binding Factor Alpha 2 Subunit / Q000235:genetics; D004211:Disseminated Intravascular Coagulation / Q000453:epidemiology; D005260:Female; D006801:Humans; D016130:Immunophenotyping; D015470:Leukemia, Myeloid, Acute / Q000235:genetics* / Q000401:mortality / Q000473:pathology; D015473:Leukemia, Promyelocytic, Acute / Q000473:pathology*; D008297:Male; D008875:Middle Aged; D009154:Mutation; D011379:Prognosis; D014178:Translocation, Genetic
chemical_list: D050676:Core Binding Factor Alpha 2 Subunit; C493728:RUNX1 protein, human