JAK2 V617F 真性红细胞增多症患者中慢性髓性白血病的出现
Emergence of Chronic Myeloid Leukemia in a -V617F Polycythemia Vera.
作者信息
Lorenzo Mariana, Grille Sofia, Stevenazzi Mariana
机构信息
Catedra de Hematologia, Hospital de Clinicas, Montevideo 11300, Uruguay.
Departamento Basico de Medicina, Hospital de Clinicas, Montevideo 11300, Uruguay.
出版信息
J Hematol. 2020 Apr;9(1-2):23-29. doi: 10.14740/jh591. Epub 2020 Apr 23.
Abstract
Emergence of a new chronic myeloid neoplasm in the setting of a previous one, or their concomitant appearance seems to be a rare event, but plenty of cases have been reported. We describe the case of a patient with -V617F polycythemia vera, which looses clone and develops overt chronic myeloid leukemia after 6 years. Once treatment with tyrosine kinase inhibitors controls 1 clone, clone arises again. In this report, we review the literature and discuss the clonal relationship of this event in light of the new molecular data.
摘要
在前一种慢性髓系肿瘤的背景下出现新的慢性髓系肿瘤，或者它们同时出现似乎是一种罕见事件，但已有大量病例报道。我们描述了一名患有JAK2 V617F真性红细胞增多症的患者，该患者在6年后失去一个克隆并发展为明显的慢性髓系白血病。一旦用酪氨酸激酶抑制剂控制了一个克隆，另一个克隆又会出现。在本报告中，我们回顾了文献，并根据新的分子数据讨论了这一事件的克隆关系。
相似文献
1
Emergence of Chronic Myeloid Leukemia in a -V617F Polycythemia Vera.
J Hematol. 2020 Apr;9(1-2):23-29. doi: 10.14740/jh591. Epub 2020 Apr 23.
2
Coexistence of breakpoint cluster region-Abelson1 rearrangement and Janus kinase 2 V617F mutation in chronic myeloid leukemia: A case report.
World J Clin Cases. 2019 May 6;7(9):1087-1092. doi: 10.12998/wjcc.v7.i9.1087.
3
Concomitant BCR-ABL1 translocation and JAK2(V617F) mutation in three patients with myeloproliferative neoplasms.
Diagn Mol Pathol. 2012 Sep;21(3):176-83. doi: 10.1097/PDM.0b013e318246975e.
4
Co-occurrence of mutation and translocation in chronic myeloproliferative neoplasms: a potentially confounding genetic combination.
Front Oncol. 2024 Jan 12;13:1329298. doi: 10.3389/fonc.2023.1329298. eCollection 2023.
5
is a secondary event after JAK2V617F in a patient with essential thrombocythemia who develop chronic myeloid leukemia.
Blood Sci. 2022 Aug 1;4(4):199-204. doi: 10.1097/BS9.0000000000000129. eCollection 2022 Oct.
6
From primary myelofibrosis to chronic myeloid leukemia, + B-Lymphoblastic leukemia, and back to primary myelofibrosis: An illustration of dynamic clonal evolution.
EJHaem. 2024 Jan 10;5(1):157-161. doi: 10.1002/jha2.806. eCollection 2024 Feb.
7
[BCR-ABL1-positive chronic myeloid leukemia emerging in a patient with secondary myelofibrosis harboring the JAK2-V617F mutation].
Rinsho Ketsueki. 2017;58(4):298-302. doi: 10.11406/rinketsu.58.298.
8
[Novel method in diagnosis of chronic myeloproliferative disorders--detection of JAK2 mutation].
Orv Hetil. 2006 Nov 12;147(45):2175-9.
9
A rare atypical chronic myeloid leukemia BCR-ABL1 negative with concomitant V617F and mutations: a case report and literature review.
Ther Adv Hematol. 2020 Jul 28;11:2040620720927105. doi: 10.1177/2040620720927105. eCollection 2020.
10
JAK2 V617F/C618R mutation in a patient with polycythemia vera: a case study and review of the literature.
Cancer Genet Cytogenet. 2009 Feb;189(1):43-7. doi: 10.1016/j.cancergencyto.2008.09.010.
引用本文的文献
1
Sequential occurrence of BCR::ABL1-negative MPN and CML and vice versa: results from a real world cohort.
Int J Hematol. 2025 Sep 4. doi: 10.1007/s12185-025-04046-5.
2
Co-occurrence of mutation and translocation in chronic myeloproliferative neoplasms: a potentially confounding genetic combination.
Front Oncol. 2024 Jan 12;13:1329298. doi: 10.3389/fonc.2023.1329298. eCollection 2023.
3
Comment on: JAK2 V617F-mutated polycythemia vera developing in a patient with a 20-year-long chronic myeloid leukemia at the time of first molecular response.
Ann Hematol. 2023 Sep;102(9):2619-2620. doi: 10.1007/s00277-023-05297-0. Epub 2023 May 31.
4
A 68-Year-Old Man with a Cytogenetic Diagnosis of Chronic Myeloid Leukemia and Bone Marrow Findings of Philadelphia Chromosome Translocation Between the Long Arm of Chromosomes 9 and 22, Leading to the BCR-ABL1 Fusion Gene and V617F Mutation in the JAK2 Gene.
Am J Case Rep. 2023 Mar 3;24:e938488. doi: 10.12659/AJCR.938488.
本文引用的文献
1
Concurrent JAK2-Positive Myeloproliferative Disorder and Chronic Myelogenous Leukemia: A Novel Entity? A Case Report With Review of the Literature.
J Investig Med High Impact Case Rep. 2019 Jan-Dec;7:2324709619832322. doi: 10.1177/2324709619832322.
2
Unique Case of Myeloproliferative Neoplasm with Two Rare Clonal Abnormalities: Rare JAK2 Exon 12 Mutation and Rare e14a3 (b3a3) BCR/ABL Fusion Transcript.
Acta Haematol. 2019;141(1):23-27. doi: 10.1159/000494427. Epub 2018 Nov 21.
3
Classification and Personalized Prognosis in Myeloproliferative Neoplasms.
N Engl J Med. 2018 Oct 11;379(15):1416-1430. doi: 10.1056/NEJMoa1716614.
4
The co-occurrence of driver mutations in chronic myeloproliferative neoplasms.
Ann Hematol. 2018 Nov;97(11):2071-2080. doi: 10.1007/s00277-018-3402-x. Epub 2018 Jun 27.
5
BCR-ABL and JAK2V617F Mutation Co-existence, Rare or Just Unexplored.
Indian J Hematol Blood Transfus. 2017 Dec;33(4):633-635. doi: 10.1007/s12288-017-0781-4.
6
Clinical characteristics and whole exome/transcriptome sequencing of coexisting chronic myeloid leukemia and myelofibrosis.
Am J Hematol. 2017 Jun;92(6):555-561. doi: 10.1002/ajh.24728. Epub 2017 May 2.
7
Polycythemia vera and essential thrombocythemia: 2017 update on diagnosis, risk-stratification, and management.
Am J Hematol. 2017 Jan;92(1):94-108. doi: 10.1002/ajh.24607.
8
CALR-mutated primary myelofibrosis evolving to chronic myeloid leukemia with both CALR mutation and BCR-ABL1 fusion gene.
Ann Hematol. 2016 Dec;95(12):2101-2104. doi: 10.1007/s00277-016-2827-3. Epub 2016 Oct 3.
9
Concomitant essential thrombocythemia with JAK2 V617F mutation in a patient with chronic myeloid leukemia with major molecular response with imatinib and long-term follow-up.
Oncol Lett. 2016 Jul;12(1):485-487. doi: 10.3892/ol.2016.4631. Epub 2016 May 26.
10
Concomitant JAK2 V617F-positive polycythemia vera and BCR-ABL-positive chronic myelogenous leukemia treated with ruxolitinib and dasatinib.
Blood Cancer J. 2015 Oct 2;5(10):e351. doi: 10.1038/bcj.2015.77.
Zotero 插件