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一名同时患有骨髓增生异常综合征(MDS)和慢性淋巴细胞白血病(CLL)的患者随着病情进展出现多种细胞遗传学改变。

Multi Cytogenetic Changes in a Patient as Co-Existing MDS and CLL Progresses.

作者信息

Li Xiangxin, Ma Jiale, Wang Luqun, Yan Shuxin, Li Fanglin, Wang Lingling, Wang Lin, Li Guosheng, Ma Daoxin, Li Hao

机构信息

Department of Hematology, Qilu Hospital, Cheeloo College of Medicine, Shandong University, Jinan, Shandong, People's Republic of China.

出版信息

Onco Targets Ther. 2021 Jan 8;14:177-186. doi: 10.2147/OTT.S281800. eCollection 2021.

Abstract

BACKGROUND

Chronic lymphocytic leukemia (CLL) and myelodysplastic syndrome (MDS) existing simultaneously in untreated patients is extremely rare. There have only been nine cases of untreated CLL concurrent with or followed by the development of MDS. Of all nine cases, four patients exhibited results of cytogenetic phonotypes all showing more than one abnormal chromosome karyotype. It is unknown whether or not these abnormal chromosome karyotypes change during the development of the disease. Meanwhile, the optimal treatment for the concurrence of CLL with MDS has yet to be identified.

CASE PRESENTATION

A 69-year-old Chinese man diagnosed with co-existing CLL with MDS was observed from diagnosis, treatment, relapse to death during an admission period of a total of 158 days. Since being diagnosed with CLL and MDS, he was treated by decitabine and his condition went into remission for three months. Four laboratory tests showed an abnormal chromosome cytogenetic karyotype successively changed during the progression of the disease.

CONCLUSION

It is the first time the abnormal chromosome karyotype variation significantly associated with the change of the illness was discovered. In the relapse and deterioration stages of the disease, there was t(9;22)(q24; q11.2); add(11)(p15) and other chromosome translocation. Repeated occurrence of TET2 mutation is special at this stage of the disease. Furthermore, decitabine could be beneficial for the treatment of the disease.

摘要

背景

未经治疗的患者同时存在慢性淋巴细胞白血病(CLL)和骨髓增生异常综合征(MDS)极为罕见。仅有9例未经治疗的CLL并发或随后发展为MDS的病例。在这9例病例中,4例患者的细胞遗传学表型结果均显示不止一种异常染色体核型。尚不清楚这些异常染色体核型在疾病发展过程中是否会发生变化。同时,CLL与MDS并发的最佳治疗方法尚未确定。

病例报告

一名69岁的中国男性被诊断为CLL与MDS共存,在总共158天的住院期间,从诊断、治疗、复发至死亡均进行了观察。自被诊断为CLL和MDS以来,他接受了地西他滨治疗,病情缓解了三个月。四项实验室检查显示,异常染色体细胞遗传学核型在疾病进展过程中相继发生变化。

结论

首次发现异常染色体核型变异与病情变化显著相关。在疾病的复发和恶化阶段,出现了t(9;22)(q24; q11.2); add(11)(p15)等染色体易位。TET2突变的反复出现在该疾病的这一阶段较为特殊。此外,地西他滨可能对该疾病的治疗有益。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/6497/7802771/358da3f4e295/OTT-14-177-g0001.jpg

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