Department of Cytogenetics and Laboratory Hematology, Tata Medical Center, Kolkata, India.
Pediatr Blood Cancer. 2014 Feb;61(2):387-9. doi: 10.1002/pbc.24636. Epub 2013 Sep 9.
An infant presented with fever and purulent discharge from the left ear, proptosis of the right eye, and hepatosplenomegaly. She was diagnosed with acute monoblastic leukemia on morphological and flowcytometric analysis of the bone marrow. Karyotyping showed a jumping translocation (JT) involving the long arm of chromosome 1 as the sole cytogenetic abnormality in 29 metaphases. The patient died within 2 months of diagnosis. The presence of JT in a de novo infant AML as a sole cytogenetic abnormality indicates its possible role in leukemogenesis unlike previous reports that have implicated its role in tumor progression only.
一名婴儿出现发热和左耳脓性分泌物、右眼突出和肝脾肿大。通过骨髓形态学和流式细胞术分析，该婴儿被诊断为急性单核细胞白血病。核型分析显示 29 个中期分裂相中存在涉及 1 号染色体长臂的跳跃易位（JT），这是唯一的细胞遗传学异常。患者在诊断后 2 个月内死亡。与之前仅表明其在肿瘤进展中起作用的报告不同，作为唯一细胞遗传学异常存在于初发婴儿急性髓系白血病中的 JT 可能在白血病发生中起作用。
