In:
Cytogenetic and Genome Research, S. Karger AG, Vol. 157, No. 4 ( 2019), p. 213-219
Abstract:
Patients with childhood acute myeloid leukemia (AML) with complex karyotypes (CKs) have a dismal outcome. However, for patients with a 〈 i 〉 KMT2A 〈 /i 〉 rearrangement ( 〈 i 〉 KMT2A 〈 /i 〉 -r), the prognosis appears to depend on the fusion partner gene rather than the karyotype structure. Thus, a precise characterization of 〈 i 〉 KMT2A 〈 /i 〉 -r and the fusion partner genes, especially in CKs, is of interest for managing AML. We describe the clinical and molecular features of a child who presented with a large abdominal mass, AML, and a new CK, involving chromosomes 11, 16, and 19 leading to a 〈 i 〉 KMT2A-MLLT1 〈 /i 〉 fusion and 2 extra copies of the 〈 i 〉 ELL 〈 /i 〉 gene, thus resulting in the concurrent overexpression of 〈 i 〉 MLLT1 〈 /i 〉 and 〈 i 〉 ELL 〈 /i 〉 . Molecular cytogenetic studies defined the karyotype as 47,XY,der(11)t(11;16)(q23.3;p11.2),der(16)t(16;19)(p11.2;p13.3),der(19)t(11;19)(q23.3;p13.3),+der(19)t(16;19)(16pter & #x2192;p11.2::19p13.3 & #x2192;19q11::19p11 & #x2192;19p13.3::16p11.2 & #x2192;16pter). Array CGH revealed a gain of 30.5 Mb in the 16p13.3p11.2 region and a gain of 18.1 Mb in the 19p13.3p12 region. LDI-PCR demonstrated the 〈 i 〉 KMT2A-MLLT1 〈 /i 〉 fusion. Reverse sequence analysis showed that the 〈 i 〉 MLLT1 〈 /i 〉 gene was fused to the 16p11.2 region. RT-qPCR quantification revealed that 〈 i 〉 ELL 〈 /i 〉 and 〈 i 〉 MLLT1 〈 /i 〉 were overexpressed (4- and 10-fold, respectively). In summary, this is a pediatric case of AML presenting a novel complex t(11;16;19) variant with overexpression of 〈 i 〉 ELL 〈 /i 〉 and 〈 i 〉 MLLT1 〈 /i 〉 .
Type of Medium:
Online Resource
ISSN:
1424-8581
,
1424-859X
Language:
English
Publisher:
S. Karger AG
Publication Date:
2019
detail.hit.zdb_id:
2061918-2
SSG:
12