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Retrospective Study of Three Cases of Congenital Leukemia with Clinical Presentations and Particular Cytogenetic Abnormality by Ruqing Yang, Changwei Chi, Jie Chen, Zhu Lv, Jvxiang Wang, He Huang, Wenjian Guo, Xiaohai Zhou, Lihua Liu, Qian Li

Background: The goal is to assess the prognosis of cytogenetic abnormality, because cytogenetic abnormality is rarely encountered in clinical practice.
Methods: We retrospectively report three cytogenetic abnormality cases with clinical, cytogenetic, and genetic characteristic.
Results: All cases occurred within one month of birth and had prominent hepatosplenomegaly, including acute myeloid leukemia (case 1, case 2) and acute leukemia (case 3). Moreover, case 1 appeared as leukemia cutis at birth, case 2 was born with respiratory distress, and both showed hyperleukocytosis. The R-banded karyotype detected cytogenetic abnormality in three cases, case 1 with 46,XY,t(8;12)(q21;p13), case 2 with 47,XX,+21 and case 3 with 46,XY,t(6;X)(q22:p12), respectively. Especially in case 1, reverse transcription–polymerase chain reaction analysis showed MLL-AF10 rearranged.
Conclusions: In our studies, all cases had not received chemotherapy and survived about 1 - 2 months. It suggests that cytogenetic disorders are closely related to disease development and likely result in fatal outcome if untreated. Thus, we proposed that a proper treatment decision is urgently needed in congenital leukemia.

DOI: 10.7754/Clin.Lab.2021.210430