A new complex rearrangement in infant ALL:t(X;11;17)(p11.2;q23;q12)

被引：2
作者：
Brassesco, Maria Sol [1 ]
Valera, Elvis Terci [2 ]
Meyer, Claus [3 ]
Marschalek, Rolf [3 ]
Lopes, Bruno Almeida [3 ]
de Paula Queiroz, Rosane Gomes [2 ]
Calado, Rodrigo de Tocantins [4 ]
Scrideli, Carlos Alberto [2 ]
Tone, Luiz Gonzaga [2 ]
机构：
[1] Univ Sao Paulo, Dept Biol, Fac Philosophy Sci & Letters Ribeirao Preto, Av Bandeirantes 3900, BR-14040901 Ribeirao Preto, SP, Brazil
[2] Univ Sao Paulo, Ribeirao Preto Sch Med, Dept Pediat, Av Bandeirantes 3900, BR-14040900 Ribeirao Preto, SP, Brazil
[3] Goethe Univ, Inst Pharmaceut Biol, DCAL, Max Von Laue Str 9, D-60438 Frankfurt, Germany
[4] Univ Sao Paulo, Ribeirao Preto Sch Med, Dept Clin, Av Bandeirantes 3900, BR-14040900 Ribeirao Preto, SP, Brazil
来源：
CANCER GENETICS | 2018年 / 228卷
基金：
巴西圣保罗研究基金会;
关键词：
MLL; pro-B ALL; Complex translocation; Chromosome X; WDR45; ACUTE LYMPHOBLASTIC-LEUKEMIA; HISTONE METHYLTRANSFERASE; STATIC ENCEPHALOPATHY; MLL RECOMBINOME; AUTOPHAGY; GENE; PROTEINS; CHILDHOOD; NEURODEGENERATION; IDENTIFICATION;
D O I：
10.1016/j.cancergen.2018.10.006
中图分类号：
R73 [肿瘤学];
学科分类号：
100214 ;
摘要：
We present a case of an infant who developed pro-B acute lymphoblastic leukemia with a rare and complex MLL-translocation. Cytogenetic analysis of bone marrow cells at diagnosis showed a 46,XY,t(X;11)(p11.2;q23)[13]/46,XY[7] karyotype. Fluorescence in situ hybridization analysis using a break apart specific probes showed a split in the MLL gene. Long distance inverse-PCR and next generation sequencing analysis depicted a complex rearrangement t(X;11;17)(p11.2;q23;q12) involving MLL, MLLT6 and the genomic region Xp11.23, 41 bases up-stream of the WDR45 gene. WDR45 encodes a beta-propeller protein essential for autophagocytosis. MLL rearrangements with involvement of Xp have not been previously described.
引用
收藏
页码：110 / 114
页数：5
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