伴t(14;18)(q32;q21)的慢性淋巴细胞白血病八例报告并文献复习 <span class="so-article-trans-title" dir="auto"> Translated title: Chronic lymphocytic leukemia with t(14;18)(q32;q21): report of eight cases and a literature review </span>

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Abstract

目的

分析伴t(14;18)(q32;q21)的慢性淋巴细胞白血病（CLL）患者的临床特征及预后，并进行相关文献复习。

方法

收集并分析2009年11月至2019年11月于江苏省人民医院就诊的8例伴t(14;18)(q32;q21)的CLL患者的临床资料。

结果

8例患者中7例男性，1例女性，诊断时中位年龄70岁，3例免疫表型积分5分，4例积分4分，1例积分3分。所有患者的骨髓组织病理学均为典型CLL表现。染色体核型示所有患者的t(14;18)(q32;q21)均为干系，3例仅携带t(14;18)(q32;q21)异常，4例为t(14;18)(q32;q21)伴+12，1例为t(14;18)(q32;q21)伴13q−。通过FISH在另外3例患者中发现了13q−。6例检测了免疫球蛋白重链可变区（IGHV）突变状态且均为有突变，未见IGHV3-21片段使用。进行相关检测的患者中，仅1例携带TP53突变，其余患者未见TP53、SF3B1、NOTCH1、MYD88突变。中位随访30.9个月时，1例死亡，7例存活，其中3例尚未达到治疗指征，4例接受化疗或免疫治疗的患者病情均稳定。

结论

t(14;18)(q32;q21)在CLL中少见，往往与+12、有突变的IGHV伴随出现。伴t(14;18)(q32;q21)的CLL可能预后良好。

Translated abstract

Objective

The study aimed to analyze the clinical features and prognosis of chronic lymphocytic leukemia (CLL) with t(14;18)(q32;q21) and conduct a literature review.

Methods

The clinical data of 8 patients with CLL carrying t(14;18)(q32;q21) seen in Jiangsu Province Hospital from November 2009 to November 2019 were collected and analyzed.

Results

Among the 8 cases, 7 were male and 1 was female. The median age at diagnosis was 70 years old. The immunophenotype score was 5 in 3 patients. 4 patients were scored 4 and the remaining one scored 3. The bone marrow histopathology showed the typical manifestation of CLL. Karyotype analysis showed that all the cases carried t(14;18)(q32;q21) in the stemline. The t(14;18)(q32;q21) showed as the sole abnormality in 3 cases, with +12 in 4, and with 13q− in 1 case. 13q− was found in another 3 patients by FISH. Immunoglobulin heavy chain gene (IGHV) mutation status was detected in 6 cases and all of them were mutated. None of them used IGHV3-21. Only 1 case harbored TP53 mutation and no TP53, SF3B1, NOTCH1, or MYD88 mutations were found in the remaining cases who underwent the relevant tests. At a median follow-up of 30.9 months, 1 case died. The remaining 7 cases survived and 3 of them have not reached the treatment indication. 4 patients who received chemotherapy or immunotherapy were stable.

Conclusion

The t(14;18)(q32;q21) is rare in CLL and often accompanied by +12 and mutated IGHV. CLL with t(14;18)(q32;q21) tends to have a good prognosis.

Related collections

Most cited references 25

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Cellular origin(s) of chronic lymphocytic leukemia: cautionary notes and additional considerations and possibilities.

Manlio Ferrarini, Nicholas Chiorazzi (2011)

Several cell types have been suggested as giving rise to chronic lymphocytic leukemia (CLL), and these suggestions have reflected the sophistication of technology available at the time. Although there is no consensus as to the normal cellular counterpart(s) in the disease, an antigen-experienced B lymphocyte appears required based on surface membrane phenotypes and gene expression profiles. However, what is still unclear is whether a single or multiple normal precursors were stimulated to evolve into CLL and at what stage(s) this occurred. A unifying, parsimonious theory is that CLL clones with either mutated or unmutated IGHVs derive from marginal zone B cells. However, evidence for remarkably similar B-cell receptor amino acid sequence and striking differences in polyantigen and autoantigen-binding activity, found in some but not all CLL clones, challenge a single-cell derivation for CLL. In this Perspective, we summarize data regarding normal counterparts of CLL cells and suggest that a multistep process of leukemogenesis is important to consider when assigning a cellular origin for this disease. Finally, although available data do not definitively identify the cell(s) of origin, we offer possibilities for single- and multiple-cell origin models as straw men that can be improved on and hopefully lead to final answers to this puzzle.

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Mechanisms of human lymphoid chromosomal translocations.

Michael Lieber (2016)

Analysis of chromosomal translocation sequence locations in human lymphomas has provided valuable clues about the mechanism of the translocations and when they occur. Biochemical analyses on the mechanisms of DNA breakage and rejoining permit formulation of detailed models of the human chromosomal translocation process in lymphoid neoplasms. Most human lymphomas are derived from B cells in which a DNA break at an oncogene is initiated by activation-induced deaminase (AID). The partner locus in many cases is located at one of the antigen receptor loci, and this break is generated by the recombination activating gene (RAG) complex or by AID. After breakage, the joining process typically occurs by non-homologous DNA end-joining (NHEJ). Some of the insights into this mechanism also apply to translocations that occur in non-lymphoid neoplasms.

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Comprehensive genetic characterization of CLL: a study on 506 cases analysed with chromosome banding analysis, interphase FISH, IgV(H) status and immunophenotyping.

T Haferlach, W Kern, F Dicker … (2007)

In CLL data from chromosome banding analysis (CBA) have been scarce due to the low proliferative activity of CLL cells in vitro. We improved the cultivation technique using an immunostimulatory CpG-oligonucleotide DSP30 and IL-2. A total of 506 CLL samples were analysed with CBA and interphase FISH using probes for the detection of trisomy 12, IgH rearrangements and deletions of 6q21, 11q22.3 (ATM), 13q14 (D13S25 and D13S319) and 17p13 (TP53). A total of 500 of 506 (98.8%) cases were successfully stimulated for metaphase generation and are subject to this study. Aberrations were detected in 415 of 500 (83.0%) cases by CBA and in 392 of 500 (78.4%) cases by FISH. CBA detected 832 abnormalities and FISH only 502. Therefore, CBA offers important information in addition to FISH. (1) CLL is characterized mainly by genomic imbalances and reciprocal translocations are rare. (2) A subgroup with complex aberrant karyotype (16.4%) is identified which is associated with an unmutated IgV(H) status and CD38 expression (P=0.034 and 0.02, respectively). (3) Additional abnormalities are detectable providing new biological insights into different CLL subclasses revealing a much more heterogeneous pattern of cytogenetic abnormalities as assumed so far based on FISH data only. Therefore, prospective clinical trials should evaluate the prognostic impact of newly available CBA data.

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Author and article information

Journal

Journal ID (nlm-ta): Zhonghua Xue Ye Xue Za Zhi

Journal ID (iso-abbrev): Zhonghua Xue Ye Xue Za Zhi

Journal ID (publisher-id): CJH

Title: Chinese Journal of Hematology

Publisher: Editorial office of Chinese Journal of Hematology (No. 288, Nanjing road, Heping district, Tianjin )

ISSN (Print): 0253-2727

ISSN (Electronic): 2707-9740

Publication date (Print): July 2021

Volume: 42

Issue: 7

Pages: 577-582

Affiliations

[1] 南京医科大学第一附属医院，江苏省人民医院血液科 210029 Department of Hematology, Jiangsu Province Hospital, The First Affiliated Hospital of Nanjing Medical University, Nanjing 210029, China

Author notes

通信作者：李建勇(Li Jianyong)，Email： lijianyonglm@ 123456126.com

Article

Publisher ID: cjh-42-07-577

DOI: 10.3760/cma.j.issn.0253-2727.2021.07.008

PMC ID: 8408498

PubMed ID: 34455745

SO-VID: a96cc518-179e-4e25-ad3a-c6b9daf2e255

License:

This work is licensed under a Creative Commons Attribution 3.0 License.

History

Date received : 19 January 2021

Funding

基金项目：国家自然科学基金国际（地区）合作与交流项目（81720108002）；国家重大科技专项（2018ZX09734-007）

Fund program: National Natural Science Foundation of China（81720108002）; National Major Science and Technology Projects of China（2018ZX09734-007）

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