T细胞急性淋巴细胞白血病是急性淋巴细胞白血病的一种亚型,最常见的儿童肿瘤之一。亚二倍体是一种染色体异常,染色体少于45条,与急性淋巴细胞白血病的临床结局不理想有关。
我们报告了一名14岁男性低二倍体T细胞急性淋巴细胞白血病的临床和遗传发现。病史包括颈部疼痛一个月,右侧面神经麻痹6天,发烧,困倦,和虚弱了三天,呕吐,腹泻1天。体格检查呈现低血容量的特征,右侧面神经麻痹,淋巴结肿大,肝脾肿大,喉咙痛,还有皮肤的瘀点.放射学图像显示不同器官的病变。骨髓活检证实前体T-ALL。在FISH测试中,未观察到KMT2A和BCR/ABL1重排。GTG显带显示3个细胞克隆,这证实了亚二倍体。进行多重RT-qPCR。在母细胞中发现了STIL/TAL1(del1p32)基因重排。使用CytoScanHD微阵列技术进行其他测试。分子核型没有显示亚二倍体,但是发现了其他异常,例如染色体区域的重复:4q25q35.2,6p23.3p11.1和8p23.3q24.21,以及短臂染色体9的杂合性丢失。在染色体的两个区域中,在9p21.3发现了双等位基因缺失,包括CDKN2A,CDKN2B,IFNA1,MTAP基因在10q23.31,含PTEN。孩子在确诊后9天死亡。
骨髓活检,GTG条带,FISH技术,和分子核型分析被用来做出准确的诊断。该病例记录了该疾病的快速进展和患有低二倍体的T细胞急性淋巴细胞白血病的不利结果。
T-cell acute lymphoblastic leukemia is a subtype of acute lymphoblastic leukemia, one of the most common childhood neoplasms. Hypodiploidy is a chromosome abnormality with fewer than 45 chromosomes and is associated with unsatisfactory clinical outcomes in acute lymphoblastic leukemia.
We report clinical and genetic findings of a 14-year-old male with T-cell acute lymphoblastic leukemia with low-hypodiploidy. The medical history included neck pain for a month, facial nerve palsy on the right side for 6 days, fever, drowsiness, and weakness for 3 days, vomiting, diarrhea for 1 day. The physical examination presented features of hypovolemia, palsy of the facial nerve on the right side, enlarged lymph nodes, hepatosplenomegaly, sore throat, and petechiae of the skin. Radiological images indicated lesions of different organs. Bone marrow biopsy confirmed precursor T-ALL. In the FISH tests, KMT2A and BCR/ABL1 rearrangements were not observed. GTG banding revealed 3 cell clones, which confirmed the hypodiploidy. Multiplex RT-qPCR was performed. STIL/TAL1 (del1p32) gene rearrangement was found in the blast cells. Additional tests were performed using the CytoScan HD microarray technique. Molecular karyotype did not reveal hypodiploidy, but identified other abnormalities such as duplication of chromosomal regions: 4q25q35.2, 6p23.3p11.1 and 8p23.3q24.21, and the loss of heterozygosity of short arm chromosome 9. In two regions of the chromosome biallelic deletions were found at 9p21.3, including the CDKN2A, CDKN2B, IFNA1, MTAP genes and at 10q23.31, containing PTEN. The child died 9 days after diagnosis.
Bone marrow biopsy, GTG banding, FISH techniques, and molecular karyotyping were used to make an accurate diagnosis. This
case documents a rapid progression of the disease and unfavorable results of T-cell acute lymphoblastic leukemia with hypodiploidy.