8p11 Myeloproliferative syndrome with t(8;22)(p11;q11): A case report

Liu,Jing  Jing; Meng,Li

doi:10.3892/etm.2018.6328

8p11 Myeloproliferative syndrome with t(8;22)(p11;q11): A case report

Authors:
- Jing Jing Liu
- Li Meng
View Affiliations

Affiliations: Department of Hematology, Tongji Hospital of Huazhong University of Science and Technology, Wuhan, Hubei 430030, P.R. China
Published online on: June 20, 2018 https://doi.org/10.3892/etm.2018.6328
Pages: 1449-1453

Metrics: Total Views: 0 (Spandidos Publications: | PMC Statistics: )

Metrics: Total PDF Downloads: 0 (Spandidos Publications: | PMC Statistics: )

Cited By (CrossRef): 0 citations Loading Articles...

Abstract

The 8p11 myeloproliferative syndrome (EMS), a rare myeloproliferative disease, generally progresses rapidly and is characterized by chromosomal translocations of the fibroblast growth factor receptor 1 (FGFR1) gene. The FGFR1 gene is located at chromosome 8p11 and may fuse with distinct partner genes. The breakpoint cluster region gene located at chromosome 22 is one of these partner genes. The patients' clinical phenotype is primarily dependant on the partner gene that translocates with FGFR1. Of all the available examinations, determination of the chromosome karyotype is most essential for the diagnosis of EMS. In addition, regarding treatment, allogeneic hematopoietic stem cell transplantation is currently the optimal method. The present study presented a case of 8p11 myeloproliferative syndrome with t(8;22)(p11;q11). This represents a total of 8 and 11 chromosomal translocations, which form a BCR/FGFR1 fusion gene in the patient to produce the abnormal karyotype: 46,XY,t(8;22)(p11;q11). The difference between the current case and other EMS incidences is that the patient progressed slowly and the clinical manifestation was similar to chronic myeloid leukemia (CML).

View Figures

View References

1	Kim WS, Park SG, Park G, Jang SJ, Moon DS and Kang SH: 8p11 myeloproliferative syndrome with t(1;8)(q25;p11.2): A case report and review of the literature. Acta Haematol. 133:101–105. 2015. View Article : Google Scholar : PubMed/NCBI
2	Jackson CC, Medeiros LJ and Miranda RN: 8p11 myeloproliferative syndrome: A review. Hum Pathol. 41:461–476. 2010. View Article : Google Scholar : PubMed/NCBI
3	Fioretos T, Panagopoulos I, Lassen C, Swedin A, Billström R, Isaksson M, Strömbeck B, Olofsson T, Mitelman F and Johansson B: 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. 32:302–310. 2001. View Article : Google Scholar : PubMed/NCBI
4	Matikas A, Tzannou I, Oikonomopoulou D and Bakiri M: A case of acute myelogenous leukaemia characterised by the BCR-FGFR1 translocation. BMJ Case Rep. 20:2013.
5	Wakim JJ, Tirado CA, Chen W and Collins R: t(8;22)/BCR-FGFR1 myeloproliferative disorder presenting as B acute lymphoblastic leukemia: Report of a case treated with sorafenib and review of the literature. Leuk Res. 35:pp. e151–153. 2011, View Article : Google Scholar : PubMed/NCBI
6	Baldazzi C, Iacobucci I, Luatti S, Ottaviani E, Marzocchi G, Paolini S, Stacchini M, Papayannidis C, Gamberini C, Martinelli G, et al: B-cell acute lymphoblastic leukemia as evolution of a 8p11 myeloproliferative syndrome with t(8;22)(p11;q11) and BCRFGFR1 fusion gene. Leuk Res. 34:e282–285. 2010. View Article : Google Scholar : PubMed/NCBI
7	Dolan M, Cioc A, Cross NC, Neglia JP and Tolar J: Favorable outcome of allogeneic hematopoietic cell transplantation for 8p11 myeloproliferative syndrome associated with BCR-FGFR1 gene fusion. Pediatr Blood Cancer. 59:194–196. 2012. View Article : Google Scholar : PubMed/NCBI
8	Morishige S, Oku E, Takata Y, Kimura Y, Arakawa F, Seki R, Imamura R, Osaki K, Hashiguchi M, Yakushiji K, et al: A case of 8p11 myeloproliferative syndrome with BCR-FGFR1 gene fusion presenting with trilineage acute leukemia/lymphoma, successfully treated by cord blood transplantation. Acta Haematol. 129:83–89. 2013. View Article : Google Scholar : PubMed/NCBI
9	Haslam K, Langabeer SE, Kelly J, Coen N, O'Connell NM and Conneally E: Allogeneic hematopoietic stem cell transplantation for a BCR-FGFR1 myeloproliferative neoplasm presenting as acute lymphoblastic leukemia. Case Report Hematol. 2012:pp. 6209672012
10	Demiroglu A, Steer EJ, Heath C, Taylor K, Bentley M, Allen SL, Koduru P, Brody JP, Hawson G, Rodwell R, et al: The t(8;22) in chronic myeloid leukemia fuses BCR to FGFR1: Transforming activity and specific inhibition of FGFR1 fusion proteins. Blood. 98:3778–3783. 2001. View Article : Google Scholar : PubMed/NCBI
11	Chase A, Grand FH and Cross NC: Activity of TKI258 against primary cells and cell lines with FGFR1 fusion genes associated with the 8p11 myeloproliferative syndrome. Blood. 110:3729–3734. 2007. View Article : Google Scholar : PubMed/NCBI
12	Pini M, Gottardi E, Scaravaglio P, Giugliano E, Libener R, Baraldi A, Muzio A, Cornaglia E, Saglio G and Levis A: 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. 3:315–316. 2002. View Article : Google Scholar : PubMed/NCBI
13	Murati A, Arnoulet C, Lafage-Pochitaloff M, Adélaide J, Derré M, Slama B, Delaval B, Popovici C, Vey N, Xerri L, et al: Dual lympho-myeloproliferative disorder in a patient with t(8;22) with BCR-FGFR1 gene fusion. Int J Oncol. 26:1485–1492. 2005.PubMed/NCBI
14	Agerstam H, Lilljebjörn H, Lassen C, Swedin A, Richter J, Vandenberghe P, Johansson B and Fioretos T: Fusion gene-mediated truncation of RUNX1 as a potential mechanism underlying disease progression in the 8p11 myeloproliferative syndrome. Genes Chromosomes Cancer. 46:635–643. 2007. View Article : Google Scholar : PubMed/NCBI
15	Richebourg S, Theisen O, Plantier I, Parry A, Soenen-Cornu V, Lepelley P, Preudhomme C, Renneville A, Laï JL and Roche-Lestienne C: Chronic myeloproliferative disorder with t(8;22)(p11;q11) can mime clonal cytogenetic evolution of authentic chronic myelogeneous leukemia. Genes Chromosomes Cancer. 47:915–918. 2008. View Article : Google Scholar : PubMed/NCBI
16	Qin YW, Yang YN, Bai P and Wang C: Chronic myelogenous leukemia-like hematological malignancy with t(8;22) in a 26-year-old pregnant woman: A case report. Oncol Lett. 11:4131–4133. 2016. View Article : Google Scholar : PubMed/NCBI