Se Young Han, Division of Hematology, Oncology and Transplantation, Department of Medicine, University of Minnesota, Minneapolis, MN
Krzysztof Mrózek, Clara D. Bloomfield Center for Leukemia Outcomes Research, The Ohio State University Comprehensive Cancer Center, Columbus, OH
Jenna Voutsinas, Clinical Biostatistics, Clinical Research Division, Fred Hutchinson Cancer Research Center, Seattle, WA
Qian Wu, Clinical Biostatistics, Clinical Research Division, Fred Hutchinson Cancer Research Center, Seattle, WA
Elizabeth A. Morgan, Department of Pathology, Brigham and Women's Hospital, Harvard Medical School, Boston, MA
Hanne Vestergaard, Mastocytosis Center and Department of Hematology, Odense University Hospital, Odense, Denmark
Robert Ohgami, Department of Pathology, Stanford University, Stanford, CA
Philip M. Kluin, Department of Pathology and Medical Biology, University Medical Center Groningen, University of Groningen, Groningen, The Netherlands
Thomas Kielsgaard Kristensen, Mastocytosis Center and Department of Pathology, Odense University Hospital, Odense, Denmark
Sheeja Pullarkat, Department of Pathology, University of California, Los Angeles, CA
Michael Boe Møller, Mastocytosis Center and Department of Pathology, Odense University Hospital, Odense, Denmark
Ana-Iris Schiefer, Clinical Institute of Pathology, Medical University of Vienna, Vienna, Austria
Linda B. Baughn, Division of Hematopathology, Mayo Clinic, Rochester, MN; Department of Laboratory Medicine and Pathology, University of Minnesota, Minneapolis, MN
Young Kim, Department of Pathology, City of Hope National Medical Center, Duarte, CA
David Czuchlewski, Department of Pathology, University of New Mexico, Albuquerque, NM
Jacobien R. Hilberink, Department of Pathology and Medical Biology, University Medical Center Groningen, University of Groningen, Groningen, The Netherlands
Hans-Peter Horny, Institute of Pathology, Ludwig-Maximilian University, Munich, Germany
Tracy I. George, Department of Pathology, University of New Mexico, Albuquerque, NM; Department of Pathology, University of Utah, Salt Lake City, UT
Michelle Dolan, Department of Laboratory Medicine and Pathology, University of Minnesota, Minneapolis, MN
Nam K. Ku, Department of Pathology, University of California, Los Angeles, CA
Cecilia Arana Yi, Department of Pathology, University of New Mexico, Albuquerque, NM
Vinod Pullarkat, Division of Hematology and HCT, City of Hope National Medical Center, Duarte, CA
Jessica Kohlschmidt, Clara D. Bloomfield Center for Leukemia Outcomes Research, The Ohio State University Comprehensive Cancer Center, Columbus, OH
Amandeep Salhotra, Division of Hematology and HCT, City of Hope National Medical Center, Duarte, CA
Lori Soma, Clinical Reseach Division, Fred Hutchinson Cancer Research Center, Seattle, WA; Department of Laboratory Medicine and Pathology, University of Washington Medical Center, Seattle, WA
Clara D. Bloomfield, Comprehensive Cancer Center, The Ohio State University, Columbus, OH
Dong Chen, Division of Hematopathology, Mayo Clinic, Rochester, MN
Wolfgang R. Sperr, Division of Hematology and Hemostaseology, Department of Internal Medicine I, and Ludwig Boltzmann Institute for Hematology and Oncology, Medical University of Vienna, Vienna, Austria
Guido Marcucci, Division of Hematology and HCT, City of Hope National Medical Center, Duarte, CA
Christina Cho, Adult Bone Marrow Transplant Service, Department of Medicine, Memorial Sloan Kettering Cancer Center, New York, NY; Department of Medicine, Weill Cornell Medical College; New York, NY
Cem Akin, Division of Allergy and Clinical Immunology, University of Michigan, Ann Arbor, Michigan, MI
Jason Gotlib, Stanford Cancer Institute, School of Medicine, Stanford University, Stanford, CA
Sigurd Broesby-Olsen, Mastocytosis Center and Department of Dermatology and Allergy Centre, Odense Research Center for Anaphylaxis, Odense, Denmark
Melissa Larson, Division of Hematology, Oncology and Cell Therapy, Rush University, Chicago, IL
Michael A. Linden, Department of Laboratory Medicine and Pathology, University of Minnesota, Minneapolis, MN
H Joachim Deeg, Clinical Reseach Division, Fred Hutchinson Cancer Research Center, Seattle, WA; Department of Laboratory Medicine and Pathology, University of Washington Medical Center, Seattle, WA
Gregor Hoermann, Department of Laboratory Medicine, Medical University of Vienna, Vienna, Austria; Central Institute of Medical and Chemical Laboratory Diagnostics, University Hospital Innsbruck, Innsbruck, Austria
Miguel-Angel Perales, Adult Bone Marrow Transplant Service, Department of Medicine, Memorial Sloan Kettering Cancer Center, New York, NY; Department of Medicine, Weill Cornell Medical College; New York, NY
Jason L. Hornick, Department of Pathology, Brigham and Women's Hospital, Harvard Medical School, Boston, MA
Mark R. Litzow, Department of Internal Medicine and Division of Hematology, Mayo Clinic, Rochester, MN
Ryotaro Nakamura, Division of Hematology and HCT, City of Hope National Medical Center, Duarte, CA
Daniel Weisdorf, Division of Hematology, Oncology and Transplantation, Department of Medicine, University of Minnesota, Minneapolis, MN
Gautam Borthakur, Department of Leukemia, University of Texas M.D. Anderson Cancer Center, Houston, TX
Gerwin Huls, Department of Hematology, University Medical Center Groningen, University of Groningen, Groningen, The Netherlands
Peter Valent, Division of Hematology and Hemostaseology, Department of Internal Medicine I, and Ludwig Boltzmann Institute for Hematology and Oncology, Medical University of Vienna, Vienna, Austria
Celalettin Ustun, Division of Hematology, Oncology and Transplantation, Department of Medicine, University of Minnesota, Minneapolis, MN; Division of Hematology, Oncology and Cell Therapy, Rush University, Chicago, IL
Cecilia C S Yeung, Clinical Reseach Division, Fred Hutchinson Cancer Research Center, Seattle, WA; Department of Laboratory Medicine and Pathology, University of Washington Medical Center, Seattle, WA

Document Type

Article

Publication Date

5-25-2021

Abstract

Patients with core-binding factor (CBF) acute myeloid leukemia (AML), caused by either t(8;21)(q22;q22) or inv(16)(p13q22)/t(16;16)(p13;q22), have higher complete remission rates and longer survival than patients with other subtypes of AML. However, ∼40% of patients relapse, and the literature suggests that patients with inv(16) fare differently from those with t(8;21). We retrospectively analyzed 537 patients with CBF-AML, focusing on additional cytogenetic aberrations to examine their impact on clinical outcomes. Trisomies of chromosomes 8, 21, or 22 were significantly more common in patients with inv(16)/t(16;16): 16% vs 7%, 6% vs 0%, and 17% vs 0%, respectively. In contrast, del(9q) and loss of a sex chromosome were more frequent in patients with t(8;21): 15% vs 0.4% for del(9q), 37% vs 0% for loss of X in females, and 44% vs 5% for loss of Y in males. Hyperdiploidy was more frequent in patients with inv(16) (25% vs 9%, whereas hypodiploidy was more frequent in patients with t(8;21) (37% vs 3%. In multivariable analyses (adjusted for age, white blood counts at diagnosis, and KIT mutation status), trisomy 8 was associated with improved overall survival (OS) in inv(16), whereas the presence of other chromosomal abnormalities (not trisomy 8) was associated with decreased OS. In patients with t(8;21), hypodiploidy was associated with improved disease-free survival; hyperdiploidy and del(9q) were associated with improved OS. KIT mutation (either positive or not tested, compared with negative) conferred poor prognoses in univariate analysis only in patients with t(8;21).

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