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ctt-journal > Tsaur et al. (Abstract)

Tsaur et al. (Abstract)

Cellular Therapy and Transplantation (CTT), Vol. 3, No. 12
doi: 10.3205/ctt-2011-No12-abstract35

© The Authors. This abstract is provided under the following license: Creative Commons Attribution 3.0 Unported

Abstract accepted for "5th Raisa Gorbacheva Memorial Meeting Hematopoietic Stem Cell Transplantation in Children and Adults", Saint Petersburg, Russia, September 18–20, 2011

Preliminary Program

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Characteristics of 11q23 (MLL) rearrangements in infant acute lymphoblastic leukemia

Grigory A. Tsaur1,2, Alexander M. Popov1,2, Olga V. Aleinikova3, Elmira G. Boychenko4, Tatyana Yu. Verzbitskaya1,2, Alena V. Volochnik3, Anna S. Ivanova1,2, Olga V. Kalennik5, Sergey Yu. Kovalev6, Konstantin L. Kondtratchik7, Anatoly M. Kustanovich3, Elena S. Lapotentova3, Dmitry V. Litvinov8, Irina S. Martynkevich9, Natalya V. Myakova8, Tatyana V. Nasedkina5, Vanik A. Ovsepyan10, Yulia V. Olshanskaya8, Olga M. Plehanova1, Alexander V. Popa11, Tatyana O. Riger1,2, Leonid I. Savelyev1,2,11, Olga V. Streneva1,2, Margarita V. Strigaleva1, Irina V. Shmunk12, Egor V. Shorikov1,2, Larisa G. Fechina1,2

1Regional Children’s Hospital N 1, Ekaterinburg, Russia; 2Research Institute of Medical Cell Technologies, Ekaterinburg, Russia; 3Belarusian Research Center for Pediatric Oncology and Hematology, Minsk, Belarus; 4Children’s Municipal Hospital N 1, St. Petersburg, Russia; 5Engelhardt Institute of Molecular Biology Russian Academy of Science, Moscow, Russia; 6B. Eltsyn Ural Federal University, Ekaterinburg, Russia; 7Morozov Pediatric Municipal Clinical Hospital, Moscow, Russia; 8Federal Research Institute of Pediatric Hematology, Oncology and Immunology, Moscow, Russia; 9Russian Research Institute of Hematology and Transfusiology, St. Petersburg, Russia; 10Kirov Research Institute of Hematology and Transfusiology, Kirov, Russia; 11Ural State Medical Academy, Ekaterinburg, Russia; 12Chelyabinsk Regional Hemotransfusion Station, Chelyabinsk, Russia

Correspondence: Grigory A. Tsaur, Regional Children Hospital N 1, Pediatric Oncology / Hematology Center, 32, S. Deryabina str., 620149 Ekaterinburg, Russia, E-mail: grigory.tsaur@spam is badgmail.com


Purpose: To estimate the incidence of 11q23 (MLL) rearrangements among infants (aged from 1 to 365 days) with acute lymphoblastic leukemia (ALL) without Down syndrome. And to characterize the relative frequency of different MLL rearrangements and their relationships with immunological types of ALL.

One hundred and seventeen infants with ALL were included in the current study. 11q23 (MLL) rearrangements were detected by chromosomal banding analysis, FISH, and reverse-transcriptase PCR.

Results: Translocations of 11q23 (MLL) were revealed in 74 patients (63.2%). Among this group in the majority of cases (63.5%) t(4;11)(q21;q23)/MLL-AF4 was detected, less frequently t(11;19)(q23;p13)/MLL-MLLT1 (18.9%), and then t(10;11)(p12;q23)/MLL-MLLT10 (6.8%), t(1;11)(p32;q23)/MLL-EPS15 (6.8%), and t(9;11)(p22;q23)/MLL-MLLT3 (2.7%) were found. Children under 6 months of age had a significantly higher incidence of 11q23 (MLL) rearrangements in comparison with older infants (84.0% vs. 47.8%, p<0.001). Patients with translocations 11q23 (MLL) more frequently had BI-ALL and less frequently BII-ALL than children without these rearrangements (p<0.001 for both). Fusion gene transcript was sequenced in 26 MLL-rearranged cases. Depending on the breakpoint position within MLL and partner genes we detected 7 different types of MLL-AF4 fusion gene transcript, 3 types of MLL-MLLT1, and 2 types of MLL-EPS15. The most common fusion site within MLL gene was exon 11, detected in 14 patients (53.8%).

Conclusion: 11q23 (MLL) rearrangement is the most common genetic event in infant ALL.

Keywords: acute lymphoblastic leukemia, infants, translocation 11q23, MLL rearrangements