title: Most Myeloid Neoplasms With Deletion of Chromosome 16q Are Distinct From Acute Myeloid Leukemia With Inv(16)(p13.1q22): A Bone Marrow Pathology Group Multicenter Study.
abstract: OBJECTIVE
  Isolated deletion of the long arm of chromosome 16 (del(16q)) is rare in myeloid neoplasms (MNs) and was historically considered a variant of inv(16)(p13.1q22) (inv(16)), a subtype of acute myeloid leukemia (AML) associated with CBFB-MYH11 rearrangement and favorable prognosis. This study aims to determine clinicopathologic characteristics of patients with isolated del(16q) in MNs in comparison to AMLs with isolated inv(16).
  
  
  METHODS
  Clinicopathologic features were retrospectively reviewed in 18 MNs with del(16q) and 34 AMLs with inv(16) patients from seven institutions.
  
  
  RESULTS
  MNs with del(16q) occurred in elderly patients, often as secondary MNs. Blood monocytes and marrow eosinophils were lower in del(16q) than inv(16). Deletion of CBFB but not CBFB-MYH11 rearrangement was confirmed by fluorescence in situ hybridization or reverse transcription polymerase chain reaction in 14 of 14 del(16q) patients. The median overall survival was shorter in del(16q) than in inv(16) patients (12 vs 94 months, log rank P = .0002).
  
  
  CONCLUSIONS
  Myeloid neoplasms with isolated del(16q) with deletion of the CBFB but lacking CBFB-MYH11 rearrangement should not be considered a variant of the AML-defining inv(16).
authors.affiliation: From the Department of Laboratory Medicine, Cleveland Clinic, Cleveland, OH.
authors.forename: Heesun J
authors.initials: HJ
authors.lastname: Rogers
authors.affiliation: From the Department of Laboratory Medicine, Cleveland Clinic, Cleveland, OH.
authors.forename: Eric D
authors.initials: ED
authors.lastname: Hsi
authors.affiliation: Department of Hematopathology, The University of Texas MD Anderson Cancer Center, Houston.
authors.forename: Guilin
authors.initials: G
authors.lastname: Tang
authors.affiliation: Department of Hematopathology, The University of Texas MD Anderson Cancer Center, Houston.
authors.forename: Sa A
authors.initials: SA
authors.lastname: Wang
authors.affiliation: Department of Hematopathology, The University of Texas MD Anderson Cancer Center, Houston.
authors.forename: Carlos E
authors.initials: CE
authors.lastname: Bueso-Ramos
authors.affiliation: Department of Pathology and Laboratory Medicine, University of Pennsylvania, Philadelphia.
authors.forename: Daniel
authors.initials: D
authors.lastname: Lubin
authors.affiliation: Department of Pathology and Laboratory Medicine, University of Pennsylvania, Philadelphia.
authors.forename: Jennifer J D
authors.initials: JJ
authors.lastname: Morrissette
authors.affiliation: Department of Pathology and Laboratory Medicine, University of Pennsylvania, Philadelphia.
authors.forename: Adam
authors.initials: A
authors.lastname: Bagg
authors.affiliation: Department of Pathology, University of New Mexico, Albuquerque.
authors.forename: Durga P
authors.initials: DP
authors.lastname: Cherukuri
authors.affiliation: Department of Pathology, University of New Mexico, Albuquerque.
authors.forename: Tracy I
authors.initials: TI
authors.lastname: George
authors.affiliation: Department of Pathology, Northwestern University, Chicago, IL.
authors.forename: LoAnn
authors.initials: L
authors.lastname: Peterson
authors.affiliation: Department of Pathology, Weill Cornell Medicine, New York, NY.
authors.forename: Yen-Chun
authors.initials: YC
authors.lastname: Liu
authors.affiliation: Department of Pathology, Weill Cornell Medicine, New York, NY.
authors.forename: Susan
authors.initials: S
authors.lastname: Mathew
authors.affiliation: Department of Pathology, Weill Cornell Medicine, New York, NY.
authors.forename: Attilio
authors.initials: A
authors.lastname: Orazi
authors.affiliation: Department of Pathology, Massachusetts General Hospital, Boston.
authors.forename: Robert P
authors.initials: RP
authors.lastname: Hasserjian
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D001853:Bone Marrow / Q000473:pathology*; D002872:Chromosome Deletion; D007446:Chromosome Inversion; D002885:Chromosomes, Human, Pair 16; D005260:Female; D006801:Humans; D007951:Leukemia, Myeloid / Q000235:genetics* / Q000401:mortality / Q000473:pathology; D015470:Leukemia, Myeloid, Acute / Q000235:genetics* / Q000401:mortality / Q000473:pathology; D008297:Male; D008875:Middle Aged; D015514:Oncogene Proteins, Fusion / Q000235:genetics; D012189:Retrospective Studies
chemical_list: C095514:CBFbeta-MYH11 fusion protein; D015514:Oncogene Proteins, Fusion
keywords: AML; CBFB-MYH11; Loss of CBFB; Myeloid neoplasm; del(16q); inv(16)