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一例伴有12号染色体三体和t(14;18)的慢性淋巴细胞白血病罕见病例及对伊布替尼的良好反应。

An unusual case of chronic lymphocytic leukemia with trisomy 12 and t(14;18) and a favorable response to ibrutinib.

作者信息

Haddad Fady Gh, Chebly Alain, El Sett Antoine, Kourie Hampig Raphael, Farra Chantal

机构信息

Department of Hematology and Oncology, Faculty of Medicine, Saint Joseph University, Beirut, Lebanon.

Medical Genetics Unit, Faculty of Medicine, Saint Joseph University, Beirut, Lebanon.

出版信息

Leuk Res Rep. 2021 May 11;15:100245. doi: 10.1016/j.lrr.2021.100245. eCollection 2021.

Abstract

Chronic lymphocytic leukemia (CLL) is the most common type of adult leukemia. Chromosomal abnormalities are reported to play important roles in CLL pathogenesis and evolution, including deletions of 11q, 13q, 17p, and trisomy12, that are frequently observed and have a known prognostic value. Furthermore, the mutational status of the gene was reported as an independent prognostic marker in CLL impacting the choice of therapy. We herein, report an unusual presentation of a Lebanese CLL patient with two cytogenetic abnormalities: trisomy 12 and t(14;18)(q32;q21), along with an unmutated , displaying a favorable response to ibrutinib with a maintained complete remission.

摘要

慢性淋巴细胞白血病(CLL)是成人白血病最常见的类型。据报道,染色体异常在CLL的发病机制和演变中起重要作用,包括11q、13q、17p缺失和三体12,这些异常经常被观察到且具有已知的预后价值。此外,该基因的突变状态被报道为CLL中影响治疗选择的独立预后标志物。我们在此报告一名黎巴嫩CLL患者的不寻常表现,该患者有两种细胞遗传学异常:三体12和t(14;18)(q32;q21),同时伴有未突变的情况,对依鲁替尼显示出良好反应并维持完全缓解。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/5436/8141474/01c5f25a9e04/gr1.jpg

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