Human Pathology
Volume 41, Issue 4 , Pages 461-476 , April 2010

8p11 myeloproliferative syndrome: a review

  • Courtney C. Jackson, MD

      Affiliations

    • Dr Jackson did this work, in part, when she was a fellow at Baylor College of Medicine. Her current address is Department of Pathology, The University of Mississippi Medical Center, Jackson.
    • ,
  • L. Jeffrey Medeiros, MD
    • ,
  • Roberto N. Miranda, MD

      Affiliations

    • Corresponding Author InformationCorresponding author.

Received 25 August 2009 ,Revised 1 November 2009 ,Accepted 4 November 2009.

References 

  1. Macdonald D, Sheerin SM, Cross NC, Spencer A, Goldman JM. An atypical myeloproliferative disorder with t(8;13) (p11;q12): a third case. Br J Haematol. 1994;86:879–880
  2. Macdonald D, Aguiar RC, Mason PJ, Goldman JM, Cross NC. A new myeloproliferative disorder associated with chromosomal translocations involving 8p11: a review. Leukemia. 1995;9:1628–1630
  3. Bain BJ, Gilliland DG, Horny HP, Vardiman JW. Myeloid and lymphoid neoplasms with eosinophilia and abnormalities of PDGFRA, PDGFRB or FGFR1. In:  Swerdlow SHCE,  Harris NL,  Jaffe ES,  Pileri SA,  Stein H,  Thiele J,  Vardiman JW editor. WHO classification of tumours of haematopoietic and lymphoid tissues. Lyon: IARC; 2008;p. 68–73
  4. Manthorpe R, Egeberg J, Hesselvik M, Videbaek A. Unique eosinophil granules in a case of T-cell lymphoma. Scand J Haematol. 1977;19:129–144
  5. Kjeldsberg CR, Nathwani BN, Rappaport H. Acute myeloblastic leukemia developing in patients with mediastinal lymphoblastic lymphoma. Cancer. 1979;44:2316–2323
  6. Catovsky D, Bernasconi C, Verdonck PJ, et al. The association of eosinophilia with lymphoblastic leukaemia or lymphoma: a study of seven patients. Br J Haematol. 1980;45:523–534
  7. Posner MR, Said J, Pinkus GS, et al. T-cell lymphoblastic lymphoma with subsequent acute nonlymphocytic leukemia: a case report. Cancer. 1982;50:118–124
  8. Abruzzo LV, Jaffe ES, Cotelingam JD, Whang-Peng J, Del Duca V, Medeiros LJ. T-cell lymphoblastic lymphoma with eosinophilia associated with subsequent myeloid malignancy. Am J Surg Pathol. 1992;16:236–245
  9. Xiao S, Nalabolu SR, Aster JC, et al. FGFR1 is fused with a novel zinc-finger gene, ZNF198, in the t(8;13) leukaemia/lymphoma syndrome. Nat Genet. 1998;18:84–87
  10. Rao PH, Cesarman G, Coleman M, Acaron S, Verma RS. Cytogenetic evidence for extramedullary blast crisis with t(8;13)(q11;p11) in chronic myelomonocytic leukemia. Acta Haematol. 1992;88:201–203
  11. Jotterand Bellomo M, Muhlematter D, Wicht M, Delacretaz F. Schmidt PM. t(8;9)(p11;q32) in atypical chronic myeloid leukaemia: a new cytogenetic-clinicopathologic association?. Br J Haematol. 1992;81:307–308
  12. Inhorn RC, Aster JC, Roach SA, et al. A syndrome of lymphoblastic lymphoma, eosinophilia, and myeloid hyperplasia/malignancy associated with t(8;13)(p11;q11): description of a distinctive clinicopathologic entity. Blood. 1995;85:1881–1887
  13. Kuskonmaz B, Kafali C, Akcoren Z, Karabulut HG, Akalin I, Tuncer MA. The 8p11 myeloproliferative syndrome in a 3-year-old child. Leuk Res. 2008;32:198–199
  14. Friedhoff F, Rajendra B, Moody R, Alapatt T. Novel reciprocal translocation between chromosomes 8 and 9 found in a patient with myeloproliferative disorder. Cancer Genet Cytogenet. 1983;9:391–394
  15. Macdonald D, Reiter A, Cross NC. The 8p11 myeloproliferative syndrome: a distinct clinical entity caused by constitutive activation of FGFR1. Acta Haematol. 2002;107:101–107
  16. Roy S, Szer J, Campbell LJ, Juneja S. Sequential transformation of t(8;13)-related disease: a case report. Acta Haematol. 2002;107:95–97
  17. Somers GR, Slater H, Rockman S, et al. Coexistent T-cell lymphoblastic lymphoma and an atypical myeloproliferative disorder associated with t(8;13)(p21;q14). Pediatr Pathol Lab Med. 1997;17:141–158
  18. Goradia A, Bayerl M, Cornfield D. The 8p11 myeloproliferative syndrome: review of literature and an illustrative case report. Int J Clin Exp Pathol. 2008;1:448–456
  19. Invernizzi R, Benatti C, Travaglino E, et al. A further case of myeloproliferative syndrome with reciprocal translocation (8;13)(p11;q12). Haematologica. 2004;89:239–241
  20. Matsumoto K, Morita K, Takada S, et al. A chronic myelogenous leukemia-like myeloproliferative disorder accompanied by T-cell lymphoblastic lymphoma with chromosome translocation t(8;13)(p11;q12): a Japanese case. Int J Hematol. 1999;70:278–282
  21. Wong WS, Cheng KC, Lau KM, et al. Clonal evolution of 8p11 stem cell syndrome in a 14-year-old Chinese boy: a review of literature of t(8;13) associated myeloproliferative diseases. Leuk Res. 2007;31:235–238
  22. Vega F, Medeiros LJ, Davuluri R, Cromwell CC, Alkan S, Abruzzo LV. t(8;13)-positive bilineal lymphomas: report of 6 cases. Am J Surg Pathol. 2008;32:14–20
  23. Reiter A, Sohal J, Kulkarni S, et al. Consistent fusion of ZNF198 to the fibroblast growth factor receptor-1 in the t(8;13)(p11;q12) myeloproliferative syndrome. Blood. 1998;92:1735–1742
  24. Xiao S, McCarthy JG, Aster JC, Fletcher JA. ZNF198-FGFR1 transforming activity depends on a novel proline-rich ZNF198 oligomerization domain. Blood. 2000;96:699–704
  25. Still IH, Chernova O, Hurd D, Stone RM, Cowell JK. Molecular characterization of the t(8;13)(p11;q12) translocation associated with an atypical myeloproliferative disorder: evidence for three discrete loci involved in myeloid leukemias on 8p11. Blood. 1997;90:3136–3141
  26. Popovici C, Adelaide J, Ollendorff V, et al. Fibroblast growth factor receptor 1 is fused to FIM in stem-cell myeloproliferative disorder with t(8;13). Proc Natl Acad Sci U S A. 1998;95:5712–5717
  27. Kulkarni S, Reiter A, Smedley D, Goldman JM, Cross NC. The genomic structure of ZNF198 and location of breakpoints in the t(8;13) myeloproliferative syndrome. Genomics. 1999;55:118–121
  28. Chernova O, Still I, Kalaycio M, Hoeltge G, Cowell JK. Characterization of the breakpoints in a t(8;13)(p11;q12) translocation from a patient with myeloproliferative disease using fluorescence in situ hybridization. Genes Chromosomes Cancer. 1998;21:160–165
  29. Sahin F, Sercan Z, Ertan Y, et al. Rapid transformation of atypical myeloproliferative disorder with consistent t(8;13) to B-cell acute lymphoblastic leukemia: a case report. Hematology. 2007;12:489–492
  30. Martinez-Climent JA, Vizcarra E, Benet I, et al. Cytogenetic response induced by interferon alpha in the myeloproliferative disorder with eosinophilia, T cell lymphoma and the chromosomal translocation t(8;13)(p11;q12). Leukemia. 1998;12:999–1000
  31. Leslie J, Barker T, Glancy M, Jennings B, Pearson J. t(8;13) (p11;q12) translocation in a myeloproliferative disorder associated with a T-cell non-Hodgkin lymphoma. Br J Haematol. 1994;86:876–878
  32. Fagan K, Hyde S, Harrison P. Translocation (8;13) and T-cell lymphoma. A case report. Cancer Genet Cytogenet. 1993;65:71–73
  33. Agerstam H, Lilljebjorn H, Lassen C, et al. Fusion gene-mediated truncation of RUNX1 as a potential mechanism underlying disease progression in the 8p11 myeloproliferative syndrome. Genes Chromosomes Cancer. 2007;46:635–643
  34. JabbarAl-Obaidi M, Rymes N, White P, et al. Fourth case of 8p11 myeloproliferative disorder transforming to B-lineage acute lymphoblastic leukaemia. A case report. Acta Haematol. 2002;107:98–100
  35. Chen J, Deangelo DJ, Kutok JL, et al. PKC412 inhibits the zinc finger 198-fibroblast growth factor receptor 1 fusion tyrosine kinase and is active in treatment of stem cell myeloproliferative disorder. Proc Natl Acad Sci U S A. 2004;101:14479–14484
  36. Chaffanet M, Popovici C, Leroux D, et al. t(6;8), t(8;9) and t(8;13) translocations associated with stem cell myeloproliferative disorders have close or identical breakpoints in chromosome region 8p11-12. Oncogene. 1998;16:945–949
  37. Suzan F, Guasch G, Terre C, et al. Long-term complete haematological and molecular remission after allogeneic bone marrow transplantation in a patient with a stem cell myeloproliferative disorder associated with t(8;13)(p12;q12). Br J Haematol. 2003;121:312–314
  38. Aguiar RC, Chase A, Coulthard S, et al. Abnormalities of chromosome band 8p11 in leukemia: two clinical syndromes can be distinguished on the basis of MOZ involvement. Blood. 1997;90:3130–3135
  39. Etienne A, Gelsi-Boyer V, Carbuccia N, et al. Combined translocation with ZNF198-FGFR1 gene fusion and deletion of potential tumor suppressors in a myeloproliferative disorder. Cancer Genet Cytogenet. 2007;173:154–158
  40. Nakayama H, Inamitsu T, Ohga S, et al. Chronic myelomonocytic leukaemia with t(8;9)(p11;q34) in childhood: an example of the 8p11 myeloproliferative disorder?. Br J Haematol. 1996;92:692–695
  41. Lewis JP, Jenks H, Lazerson J. Philadelphia chromosome-negative chronic myelogenous leukemia in a child with t(8;9)(p11 or 12;q34). Am J Pediatr Hematol Oncol. 1983;5:265–269
  42. Heiss S, Erdel M, Gunsilius E, Nachbaur D, Tzankov A. Myelodysplastic/myeloproliferative disease with erythropoietic hyperplasia (erythroid preleukemia) and the unique translocation (8;9)(p23;p24): first description of a case. Hum Pathol. 2005;36:1148–1151
  43. Oscier DG, Gardiner A, Dyer M. t(8;9) in chronic myeloid leukaemia. Br J Haematol. 1993;83:176–177
  44. Yamamoto K, Kawano H, Nishikawa S, Yakushijin K, Okamura A, Matsui T. A biphenotypic transformation of 8p11 myeloproliferative syndrome with CEP1/FGFR1 fusion gene. Eur J Haematol. 2006;77:349–354
  45. Mozziconacci MJ, Carbuccia N, Prebet T, et al. Common features of myeloproliferative disorders with t(8;9)(p12;q33) and CEP110-FGFR1 fusion: report of a new case and review of the literature. Leuk Res. 2008;32:1304–1308
  46. Park TS, Song J, Kim JS, et al. 8p11 myeloproliferative syndrome preceded by t(8;9)(p11;q33), CEP110/FGFR1 fusion transcript: morphologic, molecular, and cytogenetic characterization of myeloid neoplasms associated with eosinophilia and FGFR1 abnormality. Cancer Genet Cytogenet. 2008;181:93–99
  47. Sohal J, Chase A, Mould S, et al. Identification of four new translocations involving FGFR1 in myeloid disorders. Genes Chromosomes Cancer. 2001;32:155–163
  48. Vannier JP, Bizet M, Bastard C, Bernard A, Ducastelle T, Tron P. Simultaneous occurrence of a T-cell lymphoma and a chronic myelogenous leukemia with an unusual karyotype. Leuk Res. 1984;8:647–657
  49. Vizmanos JL, Hernandez R, Vidal MJ, et al. Clinical variability of patients with the t(6;8)(q27;p12) and FGFR1OP-FGFR1 fusion: two further cases. Hematol J. 2004;5:534–537
  50. Demiroglu A, Steer EJ, Heath C, et al. The t(8;22) in chronic myeloid leukemia fuses BCR to FGFR1: transforming activity and specific inhibition of FGFR1 fusion proteins. Blood. 2001;98:3778–3783
  51. Richebourg S, Theisen O, Plantier I, et al. Chronic myeloproliferative disorder with t(8;22)(p11;q11) can mime clonal cytogenetic evolution of authentic chronic myelogeneous leukemia. Genes Chromosomes Cancer. 2008;47:915–918
  52. Fioretos T, Panagopoulos I, Lassen C, et al. Fusion of the BCR and the fibroblast growth factor receptor-1 (FGFR1) genes as a result of t(8;22)(p11;q11) in a myeloproliferative disorder: the first fusion gene involving BCR but not ABL. Genes Chromosomes Cancer. 2001;32:302–310
  53. Pini M, Gottardi E, Scaravaglio P, et al. A fourth case of BCR-FGFR1 positive CML-like disease with t(8;22) translocation showing an extensive deletion on the derivative chromosome 8p. Hematol J. 2002;3:315–316
  54. Mugneret F, Chaffanet M, Maynadie M, et al. The 8p12 myeloproliferative disorder. t(8;19)(p12;q13.3): a novel translocation involving the FGFR1 gene. Br J Haematol. 2000;111:647–649
  55. Grand EK, Grand FH, Chase AJ, et al. Identification of a novel gene, FGFR1OP2, fused to FGFR1 in 8p11 myeloproliferative syndrome. Genes Chromosomes Cancer. 2004;40:78–83
  56. Belloni E, Trubia M, Gasparini P, et al. 8p11 myeloproliferative syndrome with a novel t(7;8) translocation leading to fusion of the FGFR1 and TIF1 genes. Genes Chromosomes Cancer. 2005;42:320–325
  57. Soler G, Nusbaum S, Varet B, et al. LRRFIP1, a new FGFR1 partner gene associated with 8p11 myeloproliferative syndrome. Leukemia. 2009;23:1359–1361
  58. Walz C, Chase A, Schoch C, et al. The t(8;17)(p11;q23) in the 8p11 myeloproliferative syndrome fuses MYO18A to FGFR1. Leukemia. 2005;19:1005–1009
  59. Bae SY, Kim JS, Han EA, et al. Cytogenetic abnormality involving 8p11.2 in T-lymphoblastic lymphoma: report of a new case. Cancer Genet Cytogenet. 2009;191:57–58
  60. Groth C, Lardelli M. The structure and function of vertebrate fibroblast growth factor receptor 1. Int J Dev Biol. 2002;46:393–400
  61. Ollendorff V, Guasch G, Isnardon D, Galindo R, Birnbaum D, Pebusque MJ. Characterization of FIM-FGFR1, the fusion product of the myeloproliferative disorder-associated t(8;13) translocation. J Biol Chem. 1999;274:26922–26930
  62. Guasch G, Ollendorff V, Borg JP, Birnbaum D, Pebusque MJ. 8p12 stem cell myeloproliferative disorder: the FOP-fibroblast growth factor receptor 1 fusion protein of the t(6;8) translocation induces cell survival mediated by mitogen-activated protein kinase and phosphatidylinositol 3-kinase/Akt/mTOR pathways. Mol Cell Biol. 2001;21:8129–8142
  63. Eswarakumar VP, Lax I, Schlessinger J. Cellular signaling by fibroblast growth factor receptors. Cytokine Growth Factor Rev. 2005;16:139–149
  64. Still IH, Cowell JK. The t(8;13) atypical myeloproliferative disorder: further analysis of the ZNF198 gene and lack of evidence for multiple genes disrupted on chromosome 13. Blood. 1998;92:1456–1458
  65. van der Maarel SM, Scholten IH, Huber I, et al. Cloning and characterization of DXS6673E, a candidate gene for X-linked mental retardation in Xq13.1. Hum Mol Genet. 1996;5:887–897
  66. Smedley D, Hamoudi R, Clark J, et al. The t(8;13)(p11;q11-12) rearrangement associated with an atypical myeloproliferative disorder fuses the fibroblast growth factor receptor 1 gene to a novel gene RAMP. Hum Mol Genet. 1998;7:637–642
  67. Kunapuli P, Kasyapa CS, Chin SF, Caldas C, Cowell JK. ZNF198, a zinc finger protein rearranged in myeloproliferative disease, localizes to the PML nuclear bodies and interacts with SUMO-1 and PML. Exp Cell Res. 2006;312:3739–3751
  68. Kasyapa CS, Kunapuli P, Hawthorn L, Cowell JK. Induction of the plasminogen activator inhibitor-2 in cells expressing the ZNF198/FGFR1 fusion kinase that is involved in atypical myeloproliferative disease. Blood. 2006;107:3693–3699
  69. Xu H, Lee KW, Goldfarb M. Novel recognition motif on fibroblast growth factor receptor mediates direct association and activation of SNT adapter proteins. J Biol Chem. 1998;273:17987–17990
  70. Hidalgo-Curtis C, Chase A, Drachenberg M, et al. The t(1;9)(p34;q34) and t(8;12)(p11;q15) fuse pre-mRNA processing proteins SFPQ (PSF) and CPSF6 to ABL and FGFR1. Genes Chromosomes Cancer. 2008;47:379–385
  71. Bain BJ, Fletcher SH. Chronic eosinophilic leukemias and the myeloproliferative variant of the hypereosinophilic syndrome. Immunol Allergy Clin North Am. 2007;27:377–388
  72. Dong S, Kang S, Gu TL, et al. 14-3-3 Integrates prosurvival signals mediated by the AKT and MAPK pathways in ZNF198-FGFR1–transformed hematopoietic cells. Blood. 2007;110:360–369
  73. Heath C, Cross NC. Critical role of STAT5 activation in transformation mediated by ZNF198-FGFR1. J Biol Chem. 2004;279:6666–6673
  74. Roumiantsev S, Krause DS, Neumann CA, et al. Distinct stem cell myeloproliferative/T lymphoma syndromes induced by ZNF198-FGFR1 and BCR-FGFR1 fusion genes from 8p11 translocations. Cancer cell. 2004;5:287–298
  75. Guasch G, Delaval B, Arnoulet C, et al. FOP-FGFR1 tyrosine kinase, the product of a t(6;8) translocation, induces a fatal myeloproliferative disease in mice. Blood. 2004;103:309–312
  76. Popovici C, Zhang B, Gregoire MJ, et al. The t(6;8)(q27;p11) translocation in a stem cell myeloproliferative disorder fuses a novel gene, FOP, to fibroblast growth factor receptor 1. Blood. 1999;93:1381–1389
  77. Kasyapa C, Gu TL, Natarajan L, Polakiewicz R, Cowell JK. Phosphorylation of the SSBP2 and ABL proteins by the ZNF198-FGFR1 fusion kinase seen in atypical myeloproliferative disorders as revealed by phosphopeptide-specific MS. Proteomics. 2009;9:3979–3988
  78. Dixon N, Kishnani PS, Zimmerman S. Clinical manifestations of hematologic and oncologic disorders in patients with Down syndrome. Am J Med Genet C Semin Med Genet. 2006;142C:149–157
  79. Ren M, Li X, Cowell JK. Genetic fingerprinting of the development and progression of T-cell lymphoma in a murine model of atypical myeloproliferative disorder initiated by the ZNF198-fibroblast growth factor receptor-1 chimeric tyrosine kinase. Blood. 2009;114:1576–1584
  80. Behringer D, Schaefer HE, Kunzmann R, Mertelsmann R, Dolken G. Translocation t(8;13) in a patient with T cell lymphoma and features of a myeloproliferative syndrome. Leukemia. 1995;9:988–992
  81. Chase A, Grand FH, Cross NC. Activity of TKI258 against primary cells and cell lines with FGFR1 fusion genes associated with the 8p11 myeloproliferative syndrome. Blood. 2007;110:3729–3734

PII: S0046-8177(09)00406-7

doi: 10.1016/j.humpath.2009.11.003

Human Pathology
Volume 41, Issue 4 , Pages 461-476 , April 2010

Article Tools

* Image Usage & Resolution