Conflict of interest: Nothing to declare.
Secondary acute monocytic leukemia positive for 11q23 rearrangement in Nijmegen breakage syndrome
Version of Record online: 11 MAR 2014
© 2014 Wiley Periodicals, Inc.
Pediatric Blood & Cancer
Volume 61, Issue 8, pages 1469–1471, August 2014
How to Cite
Pastorczak, A., Szczepanski, T., Trelinska, J., Finalet Ferreiro, J., Wlodarska, I., Mycko, K., Polucha, A., Sedek, L., Meyer, C., Marschalek, R. and Młynarski, W. (2014), Secondary acute monocytic leukemia positive for 11q23 rearrangement in Nijmegen breakage syndrome. Pediatr. Blood Cancer, 61: 1469–1471. doi: 10.1002/pbc.24994
- Issue online: 10 JUN 2014
- Version of Record online: 11 MAR 2014
- Manuscript Accepted: 28 JAN 2014
- Manuscript Received: 8 NOV 2013
- NN407. Grant Number: 137738
- KULeuven. Grant Number: 3M040406
- acute myeloid leukemia;
- nijmegen breakage syndrome
Nijmegen breakage syndrome (NBS) is an autosomal recessive chromosomal instability disorder characterized by a high incidence of pediatric hematologic malignancies. Majority of patients affected are of Slavic origin and share the same founder mutation of 657del5 within the NBN gene encoding protein involved in DNA double-strand breaks (DSB) repair. We report a case of a pediatric patient with NBS, who developed t(9;11)/AF9-MLL-positive AML as a second malignancy after successful treatment of T-NHL. The coexistence of NBN and MLL mutations suggests that the profound dysfunction of NBN may promote alterations of MLL that is mediated by error-prone non-homologous end joining pathway particularly in patients treated with DNA topoisomerase II inhibitors. Pediatr Blood Cancer 2014; 61:1469–1471. © 2014 Wiley Periodicals, Inc.