Coexistence of ETV6/RUNX1 and MLL aberrations in B-cell precursor acute lymphoblastic leukemia discloses a small subclass of BCP-ALL

被引：8
|
作者：
Kadam, Pratibha S. Amare [1 ]
Raje, Gauri Chandrakant [1 ]
Pais, Anurita Peter [1 ]
Banavali, Shripad [2 ]
机构：
[1] Tata Mem Hosp, Canc Cytogenet Lab, Bombay 400012, Maharashtra, India
[2] Tata Mem Hosp, Dept Med Oncol, Bombay 400012, Maharashtra, India
来源：
CANCER GENETICS AND CYTOGENETICS | 2008年 / 182卷 / 01期
关键词：
D O I：
10.1016/j.cancergencyto.2007.12.012
中图分类号：
R73 [肿瘤学];
学科分类号：
100214 ;
摘要：
Out of 76 pediatric cases of B-cell precursor acute lymphoblastic leukemia (BCP-ALL) positive for ETV6/RUNX1 (previously TEL/AML1) resulting from t(12;21), 7 cases revealed coexistence of ETV6/RUNX1 and MLL aberrations. One case of der(21) duplication with ETV6/RUNX1 exhibited a novel MLL translocation variant t(6;11)(p21.1p23;q13q25), with translocation of 3' telomeric MLL and deletion of 5' centromeric MLL. Another case of der(21) duplication with ETV6/RUNX1 showed MLL rearrangement upon Southern blotting. The remaining five ETV6/RUNX1-positive cases had MLL allelic deletion. ETV6/RUNX1 and MLL aberration clone size in these cases was suggestive of ETV6/RUNX1 as an early primary event, originating in the embryonic or infant stage and developing into leukemia by later acquisition of MLL aberration, ETV6 loss, and ETV6/RUNX1 duplication as secondary events. To date, the prognosis has been favorable, which seems to be compatible with ETV6/ RUNK1-positive ALL. We conclude that the cases with coexisting ETV6/RUNX1 and MLL aberrations probably exist as a small, hidden group of ETV6/RUNX1-positive BCP-ALL, which invites further investigation, in large series from different populations, to confirm the findings and establish the biological mechanisms and prognostic significance. (C) 2008 Elsevier Inc. All rights reserved.
引用
收藏
页码：27 / 32
页数：6
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