2008年WHO第4版において, 好酸球増多症のうち特定の遺伝子異常が原因と考えられる一群を「myeloid and lymphoid neoplasms with eosinophilia and abnormalities ofPDGFRA, PDGFRB or FGFR1」として骨髄系腫瘍に分類した.
myeloid and lymphoid neoplasms with eosinophilia and abnormalities of PDGFRA, PDGFRB or FGFR1、chronic eosinophilic leukemia,NOS、HESの３疾患が腫瘍性好酸球増殖疾患の大部分を占める。
*1 弘井 誠 好酸球増加およびPDGFRA, PDGFRBまたはFGFR遺伝子異常を伴う骨髄系ならびにリンパ系腫瘍と慢性好酸球性白血病 定平 吉都,北川 昌伸 編, 造血器腫瘍 腫瘍病理鑑別診断アトラス 2013; pp79-84 文光堂 東京 *2 Chusid MJ, et al, The hypereosinophilic syndrome: analysis of fourteen cases with review of the literature.Medicine (Baltimore). 1975 Jan;54(1):1-27. *3 Cools J, et al, A tyrosine kinase created by fusion of the PDGFRA and FIP1L1 genes as a therapeutic target of imatinib in idiopathic hypereosinophilic syndrome. N Engl J Med. 2003 Mar 27;348(13):1201-14. *4 Metzgeroth G, et al. Recurrent finding of the FIP1L1-PDGFRA fusion gene in eosinophilia-associated acute myeloid leukemia and lymphoblastic T-cell lymphoma. Leukemia. 2007 Jun;21(6):1183-8. *5 Patterer V, et al. 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. 2013; 92(6): 759-769. *6 Bain BJ, Ahmad S. Should myeloid and lymphoid neoplasms with PCM1-JAK2 and other rearrangements of JAK2 be recognized as specific entities? Br J Haematol. 2014; 166(6): 809-817. *7 Rumi E, Milosevic JD, Selleslag D, et al. Efficacyof ruxolitinib in myeloid neoplasms with PCM1-JAK2 fusion gene. Ann Hematol. 2015;94(11):1927-1928. *8 Elling C, et al. Novel imatinib-sensitive PDGFRA-activating point mutaions in hypereosinophilic syndrome induce growth factor independence and leukemia-like disease Blood 2011; 117; 2935-2943 *9 定明子ほか 好酸球増多症候群(HES)の新分類と腫瘍性HESの分子標的治療 臓器病変を伴う好酸球増多症 診断と治療 2015; 103(5): 655-660 *10 Pardanani A, et al. FIP1L1-PDGFRA fusion: prevalence and clinicopathologic correlates in 89 consecutive patients with moderate to severe eosinophilia. Blood. 2004 Nov 15;104(10):3038-45. *11 Stover EH, et al. Activation of FIP1L1-PDGFRalpha requires disruption of the juxtamembrane domain of PDGFRalpha and is FIP1L1-independent.Proc Natl Acad Sci U S A. 2006 May 23;103(21):8078-83. *12 Cools J, et al. A tyrosine kinase created by fusion of the PDGFRA and FIP1L1 genes as a therapeutic target of imatinib in idiopathic hypereosinophilic syndrome.N Engl J Med. 2003 Mar 27;348(13):1201-14. *13 Klion AD. How I treat hypereosinophilic syndromes. Blood. 2009 Oct 29;114(18):3736-41. *14 Gotlib J, Cools J. Five years since the discovery of FIP1L1-PDGFRA: what we have learned about the fusion and other molecularly defined eosinophilias. Leukemia. 2008 Nov;22(11):1999-2010. *15 Gleich GJ, Leiferman KM. The hypereosinophilic syndromes: current concepts and treatments. Br J Haematol. 2009 May;145(3):271-85. *16 Tefferi A, et al. Hypereosinophilic syndrome and clonal eosinophilia: point-of-care diagnostic algorithm and treatment update. Mayo Clin Proc. 2010 Feb;85(2):158-64. *17 Stover EH, et al. The small molecule tyrosine kinase inhibitor AMN107 inhibits TEL-PDGFRbeta and FIP1L1-PDGFRalpha in vitro and in vivo.Blood. 2005 Nov 1;106(9):3206-13. Epub 2005 Jul 19. *18 Lierman E, et al. FIP1L1-PDGFRalpha D842V, a novel panresistant mutant, emerging after treatment of FIP1L1-PDGFRalpha T674I eosinophilic leukemia with single agent sorafenib.Leukemia. 2009 May;23(5):845-51. *19 Cools J, et al. PKC412 overcomes resistance to imatinib in a murine model of FIP1L1-PDGFRα-induced myeloproliferative disease. Cancer Cell. 2003 May;3(5):459-69. *20 Baumgartner C, et al. Dasatinib inhibits the growth and survival of neoplastic human eosinophils (EOL-1) through targeting of FIP1L1-PDGFRalpha.Exp Hematol. 2008 Oct;36(10):1244-53. *21 Klion AD. How I treat hypereosinophilic syndromes. Blood. 2009 Oct 29;114(18):3736-41.
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100分析細胞中 del(4)(q12)は98%. FIP1L1-PDGFRA fusion
