期刊
JOURNAL OF PEDIATRIC HEMATOLOGY ONCOLOGY
卷 44, 期 3, 页码 E719-E722出版社
LIPPINCOTT WILLIAMS & WILKINS
DOI: 10.1097/MPH.0000000000002386
关键词
acute lymphoblastic leukemia; KMT2A-r; SEC16A; three-way translocation; t(11; 19); LDI-PCR
资金
- CAPES (PROBRAL/DAAD) [419/14]
- DAAD, Brazil-Germany
- Ministry of Health (MS), Brazil
- National Cancer Control Program INCA, Brazil
A rare three-way translocation was found in a patient with B-acute lymphoblastic leukemia, leading to fusions of KMT2A-MLLT1 and SEC16A-KMT2A, associated with poor prognosis. This highlights the importance of molecular cytogenetic tests in selecting cases for further investigation of poor prognosis leukemias.
About 25% of the patients with the translocation t(11;19)(q23;p13.3)/KMT2A-MLLT1 present three-way or more complex fusions, associated with a worse prognosis, suggesting that a particular mechanism creates functional KMT2A fusions for this condition. In this work, we show a cryptic three-way translocation t(9;11;19). Interestingly, long-distance inverse polymerase chain reaction sequencing revealed a KMT2A-MLLT1 and the yet unreported out-of-frame SEC16A-KMT2A fusion, associated with low SEC16A expression and KMT2A overexpression, in an infant with B-acute lymphoblastic leukemia presenting a poor prognosis. Our case illustrates the importance of molecular cytogenetic tests in selecting cases for further investigations, which could open perspectives regarding novel therapeutic approaches for poor prognosis childhood leukemias.
作者
我是这篇论文的作者
点击您的名字以认领此论文并将其添加到您的个人资料中。
推荐
暂无数据