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Secondary cytogenetic abnormalities in core-binding factor AML harboring inv(16) vs t(8;21). Blood advances Han, S. Y., Mrozek, K., Voutsinas, J., Wu, Q., Morgan, E. A., Vestergaard, H., Ohgami, R., Kluin, P. M., Kristensen, T. K., Pullarkat, S., Moller, M. B., Schiefer, A., Baughn, L. B., Kim, Y., Czuchlewski, D., Hilberink, J. R., Horny, H., George, T. I., Dolan, M., Ku, N. K., Arana Yi, C., 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., Hornick, J. L., Litzow, M. R., Nakamura, R., Weisdorf, D., Borthakur, G., Huls, G., Valent, P., Ustun, C., Yeung, C. C. 2021; 5 (10): 2481-2489

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).

View details for DOI 10.1182/bloodadvances.2020003605

View details for PubMedID 34003250