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JAK2 V617F 突变型原发性血小板增多症与携带 der(8;17)(q10;q10) 的慢性淋巴细胞白血病共存。

Co-occurrence of JAK2 V617F-mutated essential thrombocythemia and chronic lymphocytic leukemia harboring der(8;17)(q10;q10).

机构信息

Department of Hematology, Osaka General Hospital of West Japan Railway Company, Osaka, Japan.

Hematology, Graduate School of Medicine, Osaka City University, Osaka, Japan.

出版信息

Cancer Rep (Hoboken). 2022 Oct;5(10):e1658. doi: 10.1002/cnr2.1658. Epub 2022 Jun 17.

DOI:10.1002/cnr2.1658
PMID:35715969
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC9575505/
Abstract

BACKGROUND AND CASE

We herein present a case of the co-occurrence of JAK2-mutated essential thrombocythemia (ET) with chronic lymphocytic leukemia (CLL) harboring the recurrent and rare whole-arm translocation, der(8;17)(q10;q10). The co-existence of lymphoproliferative neoplasms and myeloproliferative neoplasms is suggested to be a rare event. Under this condition, the lymphoproliferative disorder presents a clinically indolent course with a low-risk biological profile. However, the present case showed aggressive disease progression, reflecting a poor prognostic factor; that is, the loss of 17p caused by the whole-arm der(8;17)(q10;q10) translocation.

CONCLUSION

The present case report emphasizes the importance of considering the involvement of a genetically poor prognostic factor, regardless of the co-occurrence of CLL and ET.

摘要

背景和案例

我们在此介绍了一例 JAK2 突变型原发性血小板增多症 (ET) 与慢性淋巴细胞白血病 (CLL) 同时发生的病例，后者携带反复出现的罕见全臂易位，即 der(8;17)(q10;q10)。淋巴增生性肿瘤和骨髓增生性肿瘤的共存被认为是一种罕见事件。在这种情况下，淋巴增生性疾病表现为临床惰性病程和低风险的生物学特征。然而，本病例表现出侵袭性疾病进展，反映了预后不良的因素，即全臂 der(8;17)(q10;q10)易位导致的 17p 缺失。

结论

本病例报告强调了无论 CLL 和 ET 是否同时发生，都应考虑涉及遗传预后不良因素的重要性。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/51f3/9575505/f6017cacb007/CNR2-5-e1658-g003.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/51f3/9575505/66a3ab2024a9/CNR2-5-e1658-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/51f3/9575505/af8407b970b7/CNR2-5-e1658-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/51f3/9575505/f6017cacb007/CNR2-5-e1658-g003.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/51f3/9575505/66a3ab2024a9/CNR2-5-e1658-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/51f3/9575505/af8407b970b7/CNR2-5-e1658-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/51f3/9575505/f6017cacb007/CNR2-5-e1658-g003.jpg

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本文引用的文献

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Genes Chromosomes Cancer. 2022 Jan;61(1):37-43. doi: 10.1002/gcc.22994. Epub 2021 Sep 4.
2
Chronic lymphocytic leukemia patients with IGH translocations are characterized by a distinct genetic landscape with prognostic implications.IGH 易位的慢性淋巴细胞白血病患者具有独特的遗传特征，具有预后意义。
Int J Cancer. 2020 Nov 15;147(10):2780-2792. doi: 10.1002/ijc.33235. Epub 2020 Sep 4.
3
Association of lymphoid malignancies and Philadelphia-chromosome negative myeloproliferative neoplasms: Clinical characteristics, therapy and outcome.
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Leuk Res. 2015 Aug;39(8):822-7. doi: 10.1016/j.leukres.2015.05.002. Epub 2015 May 12.
4
Chronic lymphocytic leukemia with t(14;18)(q32;q21).伴有 t(14;18)(q32;q21)的慢性淋巴细胞白血病。
Hum Pathol. 2013 Apr;44(4):598-605. doi: 10.1016/j.humpath.2012.07.005. Epub 2012 Oct 16.
5
The coexistence of chronic lymphocytic leukemia and myeloproliperative neoplasms: a retrospective multicentric GIMEMA experience.慢性淋巴细胞白血病与骨髓增生性肿瘤共存：GIMEMA 的回顾性多中心经验。
Am J Hematol. 2011 Dec;86(12):1007-12. doi: 10.1002/ajh.22171. Epub 2011 Sep 22.
6
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7
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8
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Leuk Res. 1997 Nov-Dec;21(11-12):1011-23. doi: 10.1016/s0145-2126(97)00095-7.