PCM1-JAK2 Fusion in a Patient With Acute Myeloid Leukemia

다국어 초록 (Multilingual 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 (Reference)

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3 Arber DA, "The 2016 revision to the World Health Organization classification of myeloid neoplasms and acute leukemia" 127 : 2391-2405, 2016

4 Bain BJ, "Should myeloid and lymphoid neoplasms with PCM1-JAK2 and other rearrangements of JAK2 be recognized as specific entities?" 166 : 809-817, 2014

5 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" 120 : 1529-1531, 2012

6 Reiter A, "Myeloid neoplasms with eosinophilia" 129 : 704-714, 2017

7 Schwaab J, "Limited duration of complete remission on ruxolitinib in myeloid neoplasms with PCM1-JAK2 and BCR-JAK2 fusion genes" 94 : 233-238, 2015

8 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" 92 : 759-769, 2013

9 Rumi E, "Efficacy of ruxolitinib in chronic eosinophilic leukemia associated with a PCM1-JAK2 fusion gene" 31 : e269-e271, 2013

10 송일근, "A t(8;9)(p22;p24)/PCM1-JAK2 Translocation in a Patient With Myeloproliferative Neoplasm and Myeloid Sarcoma: First Report in Korea" 대한진단검사의학회 36 (36): 79-81, 2016