|Table of Contents|

Research progress of 8p11 myeloproliferative syndrome

Journal Of Modern Oncology[ISSN:1672-4992/CN:61-1415/R]

Issue:
2023 16
Page:
3114-3117
Research Field:
Publishing date:

Info

Title:
Research progress of 8p11 myeloproliferative syndrome
Author(s):
LYU Mengyao; LI Feng
Department of Hematology,Jinling Clinical Medical College,Nanjing University of Chinese Medicine,Jiangsu Nanjing 210002,China.
Keywords:
8p11 myeloproliferative syndrome; myeloproliferative neoplasm; fibroblast growth factor receptor 1; tyrosine kinase inhibitors
PACS:
R733.3
DOI:
10.3969/j.issn.1672-4992.2023.16.033
Abstract:
The molecular hallmarks of 8p11 myeloproliferative syndrome (EMS) are the fusion of fibroblast growth factor receptor 1 (FGFR1) and various partner genes,which result in the creation of chimeric protein with constitutive activation of the FGFR1 tyrosine kinase.The clinical manifestations of EMS are diverse and aggressive,and most of them rapidly progress to acute leukemia.At present,only allogeneic hematopoietic stem cell transplantation (HSCT) can effectively control the disease.To date,18 partner genes of FGFR1 have been identified.This article reviews the molecular biological characteristics,pathogenesis and progression mechanism,clinical manifestations and treatment of EMS.

References:

［1］ ABRUZZO LV,JAFFE ES,COTELINGAM JD,et al.T-cell lymphoblastic lymphoma with eosinophilia associated with subsequent myeloid malignancy［J］.Am J Surg Pathol,1992,16(3):236-245.
［2］ 赵一帆,苏永忠,白雪,等.30例伴BCR-FGFR1融合基因阳性8p11骨髓增殖综合征患者诊疗分析［J］.重庆医学,2021,50(09):1498-1503. ZHAO YF,SU YZ,BAI X,et al.Diagnostic and therapeutic analysis in 30 patients with 8p11 myeloproliferative syndrome complicating BCR-FGFR1 fusion gene positive［J］.Chongqing Medicine,2021,50(09):1498-1503.
［3］ KHOURY JD,SOLARY E,ABLA O,et al.The 5th edition of the World Health Organization classification of haematolymphoid tumours:Myeloid and histiocytic/dendritic neoplasms［J］.Leukemia,2022,36(7):1703-1719.
［4］ COWELL JK,HU T.Mechanisms of resistance to FGFR1 inhibitors in FGFR1-driven leukemias and lymphomas:implications for optimized treatment［J］.Cancer Drug Resist,2021,4(3):607-619.
［5］ KASBEKAR M,NARDI V,DAL CIN P,et al.Targeted FGFR inhibition results in a durable remission in an FGFR1-driven myeloid neoplasm with eosinophilia［J］.Blood Adv,2020,4(13):3136-3140.
［6］ ZHANG X,WANG F,YAN F,et al.Identification of a novel HOOK3-FGFR1 fusion gene involved in activation of the NF-kappaB pathway［J］.Cancer Cell Int,2022,22(1):40.
［7］ LI F,ZHAI YP,TANG YM,et al.Identification of a novel partner gene,TPR,fused to FGFR1 in 8p11 myeloproliferative syndrome［J］.Genes Chromosomes Cancer,2012,51(9):890-897.
［8］ KIM SY,KIM JE,PARK S,et al.Molecular identification of a TPR-FGFR1 fusion transcript in an adult with myeloproliferative neoplasm,T-lymphoblastic lymphoma,and a t(1;8)(q25;p11.2)［J］.Cancer Genetics,2014,207(6):258-262.
［9］ KIM WS,PARK SG,PARK G,et al.8p11 myeloproliferative syndrome with t(1;8)(q25;p11.2):a case report and review of the literature［J］.Acta Haematologica,2015,133(1):101-105.
［10］ MALLI T,BUXHOFER-AUSCH V,RAMMER M,et al.Functional characterization,localization,and inhibitor sensitivity of the TPR-FGFR1 fusion in 8p11 myeloproliferative syndrome［J］.Genes Chromosomes Cancer,2016,55(1):60-68.
［11］ YOSHIDA C,TAKEUCHI M,SADAHIRA Y.A novel t(1;8)(q25;p11.2) translocation associated with 8p11 myeloproliferative syndrome［J］.British Journal of Haematology,2012,156(2):271-273.
［12］ 薛松,许焕霞,张永平,等.罕见表型的8p11骨髓增殖综合征的特征［J］.中国实验血液学杂志,2021,29(01):181-187. XUE S,XV HX,ZHANG YP,et al.Characteristic of 8p11 myeloproliferative syndrome with rare phenotype［J］.The Chinese Journal of Experimental Hematology,2021,29(01):181-187.
［13］ PEIRIS MN,MEYER AN,NELSON KN,et al.Oncogenic fusion protein BCR-FGFR1 requires the breakpoint cluster region-mediated oligomerization and chaperonin Hsp90 for activation［J］.Haematologica,2020,105(5):1262-1273.
［14］ QIU XH,LI F,CAO HQ,et al.Activity of fibroblast growth factor receptor inhibitors TKI258,ponatinib and AZD4547 against TPR-FGFR1 fusion［J］.Mol Med Rep,2017,15(3):1024-1030.
［15］ WANG T,WANG Z,ZHANG L,et al.Identification of a novel TFG-FGFR1 fusion gene in an acute myeloid leukaemia patient with t(3;8)(q12;p11)［J］.British Journal of Haematology,2020,188(1)：177-181.
［16］ CHONG Y,LIU Y,LU S,et al.Critical individual roles of the BCR and FGFR1 kinase domains in BCR-FGFR1-driven stem cell leukemia/lymphoma syndrome［J］.Int J Cancer,2020,146(8)：2243-2254.
［17］ HU T,CHONG Y,LU S,et al.Loss of the BCR-FGFR1 GEF domain suppresses RHOA activation and enhances B-lymphomagenesis in mice［J］.Cancer Research,2019,79(1):114-124.
［18］ HU T,WU Q,CHONG Y,et al.FGFR1 fusion kinase regulation of MYC expression drives development of stem cell leukemia/lymphoma syndrome［J］.Leukemia,2018,32(11):2363-2373.
［19］ WANG X,HUANG X,PANG H,et al.Myeloid/lymphoid neoplasm with FGFR1 rearrangement accompanying RUNX1 and NOTCH1 gene mutations［J］.Front Oncol,2019,9:1304.
［20］ URREA PINEDA LY,PERILLA O,SANTIAGO-PACHECO V,et al.Myeloproliferative syndrome with eosinophilia associated with translocation t(8; 13) and T-cell lymphoblastic lymphoma:A case report and review of the literature［J］.Cureus,2022,14(3):e22734.
［21］ MANUR R,SUNG PJ,LOREN AW,et al.Leukemic lineage switch in a t(8;22)(p11.2;q11.2)/BCR-FGFR1-rearranged myeloid/lymphoid neoplasm with RUNX1 mutation-diagnostic pitfalls and clinical management including FGFR1 inhibitor pemigatinib［J］.Leukemia & Lymphoma,2020,61(2):450-454.
［22］ CHO HE,HAN Y,LEE JJ,et al.The first case of B-lymphoblastic leukemia associated with t(7;8)(q34;p11.2) and FGFR1 rearrangement［J］.Annals of Laboratory Medicine,2022,42(4):485-487.
［23］ ROMAGNOLI S,BARTALUCCI N,GESULLO F,et al.Nanopore sequencing for the screening of myeloid and lymphoid neoplasms with eosinophilia and rearrangement of PDGFRα,PDGFRβ,FGFR1 or PCM1-JAK2［J］.Biomarker Research,2021,9(1):83.
［24］ LI T,ZHANG G,ZHANG X,et al.The 8p11 myeloproliferative syndrome:Genotypic and phenotypic classification and targeted therapy［J］.Front Oncol,2022,12:1015792.
［25］ LIU Y,MI X,GADDE R,et al.FGFR1 rearrangement guides diagnosis and treatment of a trilineage B,T,and myeloid mixed phenotype acute leukemia［J］.JCO Precis Oncol,2020,4:PO.19.00402.
［26］ TSUBAKI M,TAKEDA T,MATSUDA T,et al.Activation of serum/glucocorticoid regulated kinase 1/nuclear factor-κB pathway are correlated with low sensitivity to bortezomib and ixazomib in resistant multiple myeloma cells［J］.Biomedicines,2021,9(1):33.
［27］ WU L,ZHANG C,HE C,et al.Discovery of pemigatinib:A potent and selective fibroblast growth factor receptor (FGFR) inhibitor［J］.J Med Chem,2021,64(15):10666-10679.
［28］ LIU PCC,KOBLISH H,WU L,et al.INCB054828 (pemigatinib),a potent and selective inhibitor of fibroblast growth factor receptors 1,2,and 3,displays activity against genetically defined tumor models［J］.PLoS One,2020,15(4):e0231877.
［29］ SOOTOME H,FUJITA H,ITO K,et al.Futibatinib IS A NOVEL IRREVERSIBLE FGFR 1-4 inhibitor that shows selective antitumor activity against FGFR-deregulated tumors［J］.Cancer Res,2020,80(22):4986-4997.
［30］ CAI B,LIU Y,CHONG Y,et al.A truncated derivative of FGFR1 kinase cooperates with FLT3 and KIT to transform hematopoietic stem cells in syndromic and de novo AML［J］.Mol Cancer,2022,21(1):156.
［31］ LIU Y,CAI B,CHONG Y,et al.Downregulation of PUMA underlies resistance to FGFR1 inhibitors in the stem cell leukemia/lymphoma syndrome［J］.Cell Death Dis,2020,11(10):884.

Memo

Memo:
National Natural Science Foundation of China(No.81800126);国家自然科学基金青年项目（编号：81800126）；东部战区总医院院管课题（编号：YYMS2021037）
Last Update: 1900-01-01