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

Han, Se Young; Mrozek, Krzysztof; Voutsinas, Jenna; Wu, Qian; Morgan, Elizabeth A.; Vestergaard, Hanne; Ohgami, Robert; Kluin, Philip M.; Kristensen, Thomas Kielsgaard; Pullarkat, Sheeja; Moller, Michael Boe; Schiefer, Ana-Iris; Baughn, Linda B.; Kim, Young; Czuchlewski, David; Hilberink, Jacobien R.; Horny, Hans-Peter; George, Tracy I.; Dolan, Michelle; Ku, Nam K.; Yi, Cecilia Arana; Pullarkat, Vinod; Kohlschmidt, Jessica; Salhotra, Amandeep; Soma, Lori; Bloomfield, Clara D.; Chen, Dong; Sperr, Wolfgang R.; Marcucci, Guido; Cho, Christina; Akin, Cem; Gotlib, Jason; Broesby-Olsen, Sigurd; Larson, Melissa; Linden, Michael A.; Deeg, H. Joachim; Hoermann, Gregor; Perales, Miguel-Angel; Hornick, Jason L.; Litzow, Mark R.; Nakamura, Ryotaro; Weisdorf, Daniel; Borthakur, Gautam; Huls, Gerwin; Valent, Peter; Ustun, Celalettin und Yeung, Cecilia C. S. (2021): Secondary cytogenetic abnormalities in core-binding factor AML harboring inv(16) vs t(8;21). In: Blood Advances, Bd. 5, Nr. 10: S. 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, similar to 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).

• Dokumententyp: Zeitschriftenartikel
• Fakultät: Medizin
• Themengebiete: 600 Technik, Medizin, angewandte Wissenschaften > 610 Medizin und Gesundheit
• ISSN: 2473-9529
• Sprache: Englisch