Secondary cytogenetic abnormalities in core-binding factor AML harboring inv(16) vs t(8;21) Journal Article


Authors: Han, S. Y.; Mrózek, K.; Voutsinas, J.; Wu, Q.; Morgan, E. A.; Vestergaard, H.; Ohgami, R.; Kluin, P. M.; Kielsgaard Kristensen, T.; Pullarkat, S.; Møller, M. B.; Schiefer, A. I.; Baughn, L. B.; Kim, Y.; Czuchlewski, D.; Hilberink, J. R.; Horny, H. P.; George, T. I.; Dolan, M.; Ku, N. K.; Yi, C. A.; Pullarkat, V.; Kohlschmidt, J.; Salhotra, A.; Soma, L.; Bloomfield, C. D.; Chen, D.; Sperr, W. R.; Marcucci, G.; Cho, C.; Akin, C.; Gotlib, J.; Broesby-Olsen, S.; Larson, M.; Linden, M. A.; Deeg, H. J.; Hoermann, G.; Perales, M. A.; Hornick, J. L.; Litzow, M. R.; Nakamura, R.; Weisdorf, D.; Borthakur, G.; Huls, G.; Valent, P.; Ustun, C.; Yeung, C. C. S.
Article Title: Secondary cytogenetic abnormalities in core-binding factor AML harboring inv(16) vs t(8;21)
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). © 2021 by The American Society of Hematology
Journal Title: Blood Advances
Volume: 5
Issue: 10
ISSN: 2473-9529
Publisher: American Society of Hematology  
Date Published: 2021-05-25
Start Page: 2481
End Page: 2489
Language: English
DOI: 10.1182/bloodadvances.2020003605
PUBMED: 34003250
PROVIDER: scopus
PMCID: PMC8152510
DOI/URL:
Notes: Article -- Export Date: 1 July 2021 -- Source: Scopus
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  1. Miguel-Angel Perales
    913 Perales
  2. Christina Cho
    134 Cho