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PCM1-JAK2 Fusion in a Patient With Acute Myeloid Leukemia

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초록

Over 34 myeloid neoplasm cases with a PCM1-JAK2 fusion have been reported worldwide since 1999, including one case reported in Korea [1, 2]. These cases share common features, such as splenomegaly, eosinophilia, myelofibrosis, and male predominance. Most cases have been diagnosed as myeloproliferative neoplasm or myelodysplastic/myeloproliferative neoplasm, in particular, as chronic eosinophilic leukemia and atypical chronic myeloid leukemia. However, acute myeloid/lymphoid leukemia cases have also been reported [1]. Therefore, the 2016 WHO revision recognized the PCM1-JAK2 fusion gene as a provisional entity [3], joining the existing category of “myeloid and lymphoid neoplasms with eosinophilia and abnormalities of platelet-derived growth factor receptor α (PDGFRA), platelet-derived growth factor receptor β (PDGFRB), or fibroblast growth factor receptor 1 (FGFR1).”

Abstract

Over 34 myeloid neoplasm cases with a PCM1-JAK2 fusion have been reported worldwide since 1999, including one case reported in Korea [1, 2]. These cases share common features, such as splenomegaly, eosinophilia, myelofibrosis, and male predominance. Most cases have been diagnosed as myeloproliferative neoplasm or myelodysplastic/myeloproliferative neoplasm, in particular, as chronic eosinophilic leukemia and atypical chronic myeloid leukemia. However, acute myeloid/lymphoid leukemia cases have also been reported [1]. Therefore, the 2016 WHO revision recognized the PCM1-JAK2 fusion gene as a provisional entity [3], joining the existing category of “myeloid and lymphoid neoplasms with eosinophilia and abnormalities of platelet-derived growth factor receptor α (PDGFRA), platelet-derived growth factor receptor β (PDGFRB), or fibroblast growth factor receptor 1 (FGFR1).”

참고문헌 (10)

  1. Bain BJ, "Should myeloid and lymphoid neoplasms with PCM1-JAK2 and other rearrangements of JAK2 be recognized as specific entities?", Br J Haematol, 166, pp.809~817 (2014)[DOI]
  2. 송일근, "A t(8;9)(p22;p24)", PCM1-JAK2 Translocation in a Patient With Myeloproliferative Neoplasm and Myeloid Sarcoma: First Report in Korea, 2016, pp.36(1), 79~81[DOI]
  3. Arber DA, "The 2016 revision to the World Health Organization classification of myeloid neoplasms and acute leukemia", Blood, 127, pp.2391~2405 (2016)[DOI]
  4. Schwaab J, "Limited duration of complete remission on ruxolitinib in myeloid neoplasms with PCM1-JAK2 and BCR-JAK2 fusion genes", Ann Hematol, 94, pp.233~238 (2015)[DOI]
  5. Patterer V, "Hematologic malignancies with PCM1-JAK2 gene fusion share characteristics with myeloid and lymphoid neoplasms with eosinophilia and abnormalities of PDGFRA, PDGFRB, and FGFR1", Ann Hematol, 92, pp.759~769 (2013)[DOI]
  6. Reiter A, "The t(8;9)(p22;p24) is a recurrent abnormality in chronic and acute leukemia that fuses PCM1 to JAK2", Cancer Res, 65, pp.2662~2667 (2005)[DOI]
  7. Arber DA, "WHO classification of tumours of haematopoietic and lymphoid tissues", pp.134~135 (2008), International Agency for Research on Cancer (IARC)
  8. Rumi E, "Efficacy of ruxolitinib in chronic eosinophilic leukemia associated with a PCM1-JAK2 fusion gene", J Clin Oncol, 31, pp.e269~e271 (2013)[DOI]
  9. Lierman E, "Ruxolitinib inhibits transforming JAK2 fusion proteins in vitro and induces complete cytogenetic remission in t (8; 9)(p22; p24)", PCM1-JAK2-positive chronic eosinophilic leukemia, 2012, pp.120, 1529~1531
  10. Reiter A, "Myeloid neoplasms with eosinophilia", Blood, 129, pp.704~714 (2017)[DOI]

관련 논문AI추천

A t(8;9)(p22;p24)/PCM1-JAK2 Translocation in a Patient With Myeloproliferative Neoplasm and Myeloid Sarcoma: First Report in Korea서을주, 송일근, 이동현, 이제환, 장성수, 허주령대한진단검사의학회 · Annals of Laboratory Medicine2016 · 제36권 제1호JAK2 V617F-Positive Acute Myeloid Leukemia: Clinicopathological Features of Two Cases방수미, 이영은, 이정옥, 이지윤, 황상미대한진단검사의학회 · Laboratory Medicine Online2022 · 제12권 제1호JAK2V617F 돌연변이를 보인 비정형만성골수성백혈병 1예김병수, 김영기, 김주연, 남명현, 윤수영, 이갑노, 이세련, 이창규, 임채승, 조윤정대한진단검사의학회 · Laboratory Medicine Online2011 · 제1권 제4호급성골수성백혈병으로 진행한 JAK2 V617F 양성 만성호중구성백혈병 1예김재룡, 류남희, 이재희, 전동석, 하정숙대한진단검사의학회 · Laboratory Medicine Online2012 · 제2권 제2호A Case of del(16)(q22) in a Patient with Acute Myeloid Leukemia with Complex Karyotype강혜진, 김민기, 이지원, 이진경, 장윤환, 조은해, 홍석일, 홍영준대한진단검사의학회 · Annals of Laboratory Medicine2010 · 제30권 제4호Identification of a Novel CSNK2A1-PDGFRB Fusion Gene in a Patient with Myeloid Neoplasm with EosinophiliaChanggeng Ruan, Liang Ma, Ling Zhang, Man Wang, Ping Cai, Qiongyu Lu, Suning Chen, Xiaoyu Xu, Zhao Zeng, Zheng Wang대한암학회 · Cancer Research and Treatment2021 · 제53권 제3호

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