447
Views
13
CrossRef citations to date
0
Altmetric
Letters to the Editor

The importance of cytogenetic and molecular analyses in eosinophilia-associated myeloproliferative neoplasms: an unusual case with normal karyotype and TNIP1- PDGFRB rearrangement and overview of PDGFRB partner genes

, , , , , , , , , , , , , & show all
Pages 489-493 | Received 02 May 2016, Accepted 31 May 2016, Published online: 24 Jun 2016

References

  • Baxter EJ, Kulkarni S, Vizmanos JL, et al. Novel translocations that disrupt the platelet-derived growth factor receptor b (PDGFRB) gene in BCR–ABL-negative chronic myeloproliferative disorders. Br J Haematol. 2003; 120: 251–256.
  • Apperley JF, Gardembas M, Melo JV, et al. Response to imatinib mesylate in patients with chronic myeloproliferative diseases with rearrangements of the platelet-derived growth factor receptor beta. N Engl J Med 2002; 347: 481–487.
  • Cheah CY, Burbury K, Apperley JF, et al. Patients with myeloid malignancies bearing PDGFRB fusion genes achieve durable long-term remissions with imatinib. Blood. 2014; 123: 3574–3577.
  • David M, Cross NC, Burgstaller S, et al. Durable responses to imatinib in patients with PDGFRB fusion gene-positive and BCR-ABL-negative chronic myeloproliferative disorders. Blood. 2007; 109: 61–66.
  • Ross DM, Altamura HK, Hahn CN, et al. Delayed diagnosis leading to accelerated phase chronic eosinophilic leukemia due to a cytogenetically cryptic, imatinib-responsive TNIP1-PDFGRB fusion gene. Leukemia. 2016;30:1402–1405.
  • Praga M, Sevillano A, Auñón P, et al. Changes in the aetiology, clinical presentation and management of acute interstitial nephritis, an increasingly common cause of acute kidney injury. Nephrol Dial Transplant. 2015; 30:1472–1479.
  • Clarkson MR, Giblin L, O'Connell FP, et al. Acute interstitial nephritis: clinical features and response to corticosteroid therapy. Nephrol Dial Transplant.2004; 19:2778–2783.
  • Neilson EG. Pathogenesis and therapy of interstitial nephritis. Kidney Int. l989;35:1257–1270.
  • Adrianto I, Wang S, Wiley GB, et al. Association of two independent functional risk haplotypes in TNIP1 with systemic lupus erythematosus. Arthritis Rheum. 2012;64: 3695–3705.
  • Gotlib J. World Health Organization-defined eosinophilic disorders: 2015 update on diagnosis, risk stratification, and management. Am J Hematol. 2015; 90:1077–1089.
  • Erben P, Gosenca D, Müller MC, et al. Screening for diverse PDGFRA and PDGFRB fusion genes is facilitated by generic quantitative reverse transcriptase polymerase chain reaction analysis. Haematologica. 2010; 95:738–744.
  • Wilkinson K, Velloso ER, Lopes LF, et al. Cloning of the t(1;5)(q23;q33) in a myeloproliferative disorder associated with eosinophilia: involvement of PDGFRB and response to imatinib. Blood. 2003; 102: 4187–4190.
  • Hidalgo-Curtis C, Apperley JF, Stark A, et al. Fusion of PDGFRB to two distinct loci at 3p21 and a third at 12q13 in imatinib-responsive myeloproliferative neoplasms. Br J Haematol. 2010; 148: 268–273.
  • Rosati R, La Starza R, Luciano L, et al. TPM3/PDGFRB fusion transcript and its reciprocal in chronic eosinophilic leukemia. Leukemia. 2006; 20:1623–1624.
  • Walz C, Metzgeroth G, Haferlach C, et al. Characterization of three new imatinib-responsive fusion genes in chronic myeloproliferative disorders generated by disruption of the platelet-derived growth factor receptor beta gene. Haematologica. 2007; 92: 163–169.
  • Gallagher G, Horsman DE, Tsang P et al. Fusion of PRKG2 and SPTBN1 to the platelet-derived growth factor receptor beta gene (PDGFRB) in imatinib-responsive atypical myeloproliferative disorders. Cancer Genet Cytogenet. 2008; 181: 46–51.
  • Naumann N, Schwaab J, Metzgeroth G, et al. Fusion of PDGFRB to MPRIP, CPSF6, and GOLGB1 in three patients with eosinophilia-associated myeloproliferative neoplasms. Genes Chromosomes Cancer. 2015; 54: 762–770.
  • Winkelmann N, Hidalgo-Curtis C, Waghorn K, et al. Recurrent CEP85L-PDGFRB fusion in patient with t(5;6) and imatinib-responsive myeloproliferative neoplasm with eosinophilia. Leuk Lymphoma. 2013; 54:1527–1531.
  • Ross TS, Bernard OA, Berger R, Gilliland DG. Fusion of Huntingtin interacting protein 1 to platelet-derived growth factor beta receptor (PDGFbetaR) in chronic myelomonocytic leukemia with t(5;7)(q33;q11.2). Blood.1998; 91:4419–4426.
  • Medves S, Noël LA, Montano-Almendras CP, et al. Multiple oligomerization domains of KANK1-PDGFRβ are required for JAK2-independent hematopoietic cell proliferation and signaling via STAT5 and ERK. Haematologica. 2011;96: 1406–1414.
  • Schwaller J, Anastasiadou E, Cain D, et al. H4(D10S170), a gene frequently rearranged in papillary thyroid carcinoma, is fused to the platelet-derived growth factor receptor beta gene in atypical chronic myeloid leukemia with t(5;10)(q33;q22). Blood.2001; 97:3910–3918.
  • Kulkarni S, Heath C, Parker S, et al. Fusion of H4/D10S170 to the platelet-derived growth factor receptor beta in BCR-ABL-negative myeloproliferative disorders with a t(5;10)(q33;q21). Cancer Res. 2000;60: 3592–3598.
  • Golub TR, Barker GF, Lovett M, et al. Fusion of PDGF receptor beta to a novel ets-like gene, tel, in chronic myelomonocytic leukemia with t(5;12) chromosomal translocation. Cell. 1994; 77: 307–316.
  • Cornfield D, Shah U, Cross N, et al. Philadelphia chromosome-negative myeloproliferative neoplasm with a novel platelet-derived growth factor receptor-β rearrangement responsive to imatinib. J Clin Oncol. 2012;30:109–111.
  • Levine RL, Wadleigh M, Sternberg DW, et al. KIAA1509 is a novel PDGFRB fusion partner in imatinib-responsive myeloproliferative disease associated with a t(5;14)(q33;q32). Leukemia. 2005;19:27–30.
  • Gong SL, Guo MQ, Tang GS, et al. Fusion of platelet-derived growth factor receptor β to CEV14 gene in chronic myelomonocytic leukemia: A case report and review of the literature. Oncol lett. 2016;11:770–774.
  • Vizmanos JL, Novo FJ, Román JP, et al. NIN, a gene encoding a CEP110-like centrosomal protein, is fused to PDGFRB in a patient with a t(5;14)(q33;q24) and an imatinib-responsive myeloproliferative disorder. Cancer Res. 2004;64:2673–2676.
  • La Starza R, Rosati R, Roti G, et al. A new NDE1/PDGFRB fusion transcript underlying chronic myelomonocytic leukaemia in Noonan Syndrome. Leukemia. 2007;21:830–833.
  • Gosenca D, Kellert B, Metzgeroth G, et al. Identification and functional characterization of imatinib-sensitive DTD1-PDGFRB and CCDC88C-PDGFRB fusion genes in eosinophilia-associated myeloid/lymphoid neoplasms. Genes Chromosomes Cancer 2014;53:411–421.
  • Grand FH, Burgstaller S, Kühr T, et al. p53-Binding protein 1 is fused to the platelet-derived growth factor receptor beta in a patient with a t(5;15)(q33;q22) and an imatinib-responsive eosinophilic myeloproliferative disorder. Cancer Res. 2004; 64: 7216–7219.
  • Magnusson MK, Meade KE, Brown KE, et al. Rabaptin-5 is a novel fusion partner to platelet-derived growth factor beta receptor in chronic myelomonocytic leukemia. Blood. 2001; 98:2518–2525.
  • Walz C, Haferlach C, Hänel A, et al. Identification of a MYO18A-PDGFRB fusion gene in an eosinophilia-associated atypical myeloproliferative neoplasm with a t(5;17)(q33-34;q11.2). Genes Chromosomes Cancer 2009; 48:179–183.
  • Morerio C, Acquila M, Rosanda C, et al. HCMOGT-1 is a novel fusion partner to PDGFRB in juvenile myelomonocytic leukemia with t(5;17)(q33;p11.2). Cancer Res. 2004; 64: 2649–2651.
  • Provenzano JD, Kuebler JP. Novel t(5;19) Translocation in a Patient with PDGFRB Associated Chronic Leukemia: Implications for Treatment Strategy. Case Rep Hematol. 2013;2013:709164.
  • Bell GC, Padron E, et al. Detection of a PDGFRB fusion in refractory CMML without eosinophilia: a case for broad spectrum tumor profiling. Leuk Res Rep. 2015; 4:70–71.

Reprints and Corporate Permissions

Please note: Selecting permissions does not provide access to the full text of the article, please see our help page How do I view content?

To request a reprint or corporate permissions for this article, please click on the relevant link below:

Academic Permissions

Please note: Selecting permissions does not provide access to the full text of the article, please see our help page How do I view content?

Obtain permissions instantly via Rightslink by clicking on the button below:

If you are unable to obtain permissions via Rightslink, please complete and submit this Permissions form. For more information, please visit our Permissions help page.