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Coexistence of recurrent chromosomal abnormalities and the Philadelphia chromosome in acute and chronic myeloid leukemias: report of five cases and review of literature.
Molecular Cytogenetics ( IF 1.3 ) Pub Date : 2020-08-19 , DOI: 10.1186/s13039-020-00501-6
Jin-Ying Gong 1 , Zhen-Hao Zhang 2 , Wei Zhang 1 , Hui-Jun Wang 1 , Xiao-Fang Feng 1 , Ji Zhou 1 , Guo-Qing Zhu 1
Affiliation  

Progression of chronic myelogenous leukemia (CML) is frequently accompanied by cytogenetic evolution. Additional genetic abnormalities are seen in 10–20% of CML cases at the time of diagnosis, and in 60–80% of cases of advanced disease. Unbalanced chromosomal changes such as an extra copy of the Philadelphia chromosome (Ph), trisomy 8, and i(17)(q10) are common. Balanced chromosomal translocations, such as t(3;3), t(8;21), t(15;17), and inv(16) are typically found in acute myeloid leukemia, but rarely occur in CML. Translocations involving 11q23, t(8;21), and inv(16) are relatively common genetic abnormalities in acute leukemia, but are extremely rare in CML. In the literature to date, there are at least 76 Ph+ cases with t(3;21), 47 Ph+ cases with inv(16), 16 Ph+ cases with t(8;21), and 9 Ph+ cases with t(9;11). But most of what has been published is now over 30 years old, without the benefit of modern immunophenotyping to confirm diagnosis, and before the introduction of treatment regimes such as TKI. In this study, we explored the rare concomitant occurrence of coexistence current chromosomal translocation and t(9;22) in CML or acute myeloid leukemia (AML).

中文翻译:

急,慢性髓性白血病中复发性染色体异常与费城染色体的共存:五例报道并文献复习。

慢性粒细胞性白血病(CML)的进展通常伴随着细胞遗传学演变。在诊断时,在10–20%的CML病例和60–80%的晚期疾病病例中会发现其他遗传异常。不平衡的染色体变化(如费城染色体(Ph),三体8和i(17)(q10)的额外副本)很常见。平衡的染色体易位,例如t(3; 3),t(8; 21),t(15; 17)和inv(16)通常在急性髓细胞白血病中发现,但在CML中很少发生。涉及11q23,t(8; 21)和inv(16)的易位是急性白血病中相对常见的遗传异常,但在CML中极为罕见。迄今为止的文献中,至少有76例t +(3; 21)的Ph +病例,47例inv(16)的Ph +病例,16例t(8; 21)的Ph +病例和9例t(9; +)的Ph +病例。 11)。但是,大多数已发表的文献已经超过30年了,没有采用现代免疫表型来确定诊断的益处,而且还没有引入诸如TKI的治疗方案。在这项研究中,我们探讨了在CML或急性髓细胞性白血病(AML)中并存的当前染色体易位和t(9; 22)并存的罕见现象。
更新日期:2020-08-19
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