一例伴有多种继发性细胞遗传学异常的成人B淋巴细胞前体急性淋巴细胞白血病
An adult B-cell precursor acute lymphoblastic leukemia with multiple secondary cytogenetic aberrations.
作者信息
Al-Achkar Walid, Wafa Abdulsamad, Othman Moneeb Abdullah Kassem, Moassass Faten, Aljapawe Abdulmunim, Liehr Thomas
机构信息
Department of Molecular Biology and Biotechnology, Human Genetics Division, Atomic Energy Commission of Syria, P.O. Box 6091, Damascus, Syria.
Institute of Human Genetics, Jena University Hospital, Jena, Germany.
出版信息
Mol Cytogenet. 2014 Sep 10;7(1):60. doi: 10.1186/s13039-014-0060-0. eCollection 2014.
BACKGROUND
We report a clinically diagnosed acute lymphoblastic leukemia (ALL) with yet unreported secondary chromosomal aberrations.
RESULTS
A complete cytogenetic and molecular cytogenetic analysis, using GTG banding, fluorescence in situ hybridization (FISH) and array-proven multicolor banding (aMCB), for a female patient with clinically diagnosed ALL and immunophenotypically confirmed pre-B ALL (FAB classifications), revealed the presence of a complex structural rearrangement, der (2) (20qter- > 20q13.33::2q21- > 2p14::2q21 > 2qter) along with t (9;22) (q34;q11), t (12;14) (q12;p12) and a monosomy of chromosome 7.
CONCLUSIONS
Molecular cytogenetic studies are suited best for identification and characterization of chromosomal rearrangements in acute leukemia. Single case reports as well as large scale studies are necessary to provide further insights in karyotypic changes taking place in human malignancies.
背景
我们报告了一例临床诊断为急性淋巴细胞白血病（ALL）且伴有尚未报道的继发性染色体畸变的病例。
结果
对一名临床诊断为ALL且免疫表型证实为前B-ALL（FAB分类）的女性患者，采用GTG显带、荧光原位杂交（FISH）和经阵列验证的多色显带（aMCB）进行了全面的细胞遗传学和分子细胞遗传学分析，结果显示存在一种复杂的结构重排，即der(2)(20qter→20q13.33::2q21→2p14::2q21→2qter)，同时伴有t(9;22)(q34;q11)、t(12;14)(q12;p12)以及7号染色体单体。
结论
分子细胞遗传学研究最适合用于鉴定和表征急性白血病中的染色体重排。需要通过单病例报告以及大规模研究来进一步深入了解人类恶性肿瘤中发生的核型变化。
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