Prognostic impact of c-KIT mutations in core binding factor leukemias: An Italian retrospective study

Roberto Cairoli, Alessandro Beghini, Giovanni Grillo, Gianpaolo Nadali, Francesca Elice, Carla Barbara Ripamonti, Patrizia Colapietro, Michele Nichelatti, Laura Pezzetti, Monia Lunghi, Antonio Cuneo, Assunta Viola, Felicetto Ferrara, Mario Lazzarino, Francesco Rodeghiero, Giovanni Pizzolo, Lidia Larizza, Enrica Morra

Research output: Contribution to journalArticle


Distinct forms of tyrosine kinase domain (TKD), juxtamembrane domain, exon 8, and internal tandem duplication (ITD) mutations of c-KIT, were observed in about 46% of core binding factor leukemia (CBFL) patients. To evaluate their prognostic significance, 67 adult patients with CBFL were analyzed to ascertain the c-KIT mutation status. In acute myeloid leukemia (AML) with t(8;21), the presence of c-KIT TKD mutation at codon 816 (TKD816) was associated with a high white blood cell count at diagnosis (median, 29.60 × 10 9/L) and a higher incidence (33%) of extramedullary leukemia (EML) during the course of the disease. Data also showed that the TKD816 mutated patients (n = 12) had a significantly higher incidence of relapse and a lower overall survival (OS) at 24 months, compared with the 17 c-KIT unmutated (c-KIT-) patients (90% vs 35.3%, P = .002; 25% vs 76.5%, P = .006, respectively). No difference in relapse incidence (P = .126) and OS (P = .474) was observed between the c-KIT mutated other than TKD816 (n = 7) and the c-KIT- patients. These findings indicate that c-KIT TKD 816 mutation has a negative impact on the outcome of AML with t(8;21).

Original languageEnglish
Pages (from-to)3463-3468
Number of pages6
Issue number9
Publication statusPublished - May 1 2006


ASJC Scopus subject areas

  • Hematology

Cite this

Cairoli, R., Beghini, A., Grillo, G., Nadali, G., Elice, F., Ripamonti, C. B., Colapietro, P., Nichelatti, M., Pezzetti, L., Lunghi, M., Cuneo, A., Viola, A., Ferrara, F., Lazzarino, M., Rodeghiero, F., Pizzolo, G., Larizza, L., & Morra, E. (2006). Prognostic impact of c-KIT mutations in core binding factor leukemias: An Italian retrospective study. Blood, 107(9), 3463-3468.