Liu Guangming, Lu Xianglan, Kim Young Mi, Wang Xianfu, Li Shibo, Liu Yuanyuan
Department of Gastroenterology, The First Hospital of Jilin University, Changchun, People's Republic of China Department of Pediatrics, University of Oklahoma Health Sciences Center, Oklahoma City, OK.
Medicine (Baltimore). 2018 May;97(21):e10874. doi: 10.1097/MD.0000000000010874.
Three-way translocations occasionally occur in MLL-AFF1 fusion and other fusion gene. However, the complex chromosomal rearrangements in the study were the first report.
We present novel cryptic and complex chromosomal rearrangements [der (21) t (9; 21) (p13; p11.2)] in an infant patient with relapsed acute lymphoblastic leukemia (ALL).
The diagnosis was based on morphologic, cytochemical, and immunophenotypic criteria proposed by the French-American-British Committee, and karyotype, fluorescence in situ hybridization, array comparative genomic hybridization.
The patient was given chemotherapy with standard protocol for ALL.
The patient had unfavorable prognostic outcome based on the cytogenetic and molecular cytogenetic markers. After short remission, the patient relapsed.
MLL-AFF1, resulting from t(4;11)(q21;q23), is regarded as the hallmark of infant t(4;11) pre-B/mixed B-ALL. It is associated with a dismal prognosis and the multiple-way translocation involving chromosomes 4, 11 and 11 may function as an enhancer.
三向易位偶尔会出现在MLL - AFF1融合基因及其他融合基因中。然而，本研究中的复杂染色体重排是首次报道。
我们报告了1例复发急性淋巴细胞白血病（ALL）婴儿患者中存在的新型隐匿性和复杂染色体重排[der(21)t(9;21)(p13;p11.2)]。
诊断依据法国 - 美国 - 英国委员会提出的形态学、细胞化学和免疫表型标准，以及核型分析、荧光原位杂交、阵列比较基因组杂交。
该患者接受了ALL标准方案化疗。
基于细胞遗传学和分子细胞遗传学标志物，该患者预后不良。短暂缓解后，患者复发。
由t(4;11)(q21;q23)产生的MLL - AFF1被视为婴儿t(4;11)前B/混合B - ALL的标志。它与预后不良相关，涉及染色体4、11和11的多向易位可能起增强子作用。
