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Case Report

Myelodysplastic syndrome without ring sideroblasts and with Janus kinase 2 gene mutation: An unusual case report

  • Authors:
    • Maria Helena Ornellas
    • Monique de França Silva
    • Cristiana Solza
    • Stella Beatriz Sampaio de Lucena Gonçalves
    • Liliane Silva de Almeida
    • Jackline de Paula Ayres‑Silva
    • Taís Leite Seixas
    • Elenice Ferreira Bastos
    • Thomas Liehr
    • Gilda Alves
  • View Affiliations / Copyright

    Affiliations: Department of Pathology, Laboratory of Circulating Markers, Faculty of Medical Sciences (FCM), Rio de Janeiro 20550‑170, Brazil, Department of Haematology, Pedro Ernesto University Hospital (HUPE), Rio de Janeiro State University (UERJ), Rio de Janeiro 20551‑120, Brazil, Laboratory of Pathology, Oswaldo Cruz Foundation (FIOCRUZ), Rio de Janeiro 21040‑360, Brazil, Cytogenetics Laboratory, Faculty of Medical Sciences, Rio de Janeiro State University (UERJ), Rio de Janeiro 20551‑120, Brazil, Jena University Hospital, Friedrich Schiller University, Institute of Human Genetics, D‑07743 Jena, Germany
  • Pages: 227-230
    |
    Published online on: July 1, 2016
       https://doi.org/10.3892/mco.2016.947
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Abstract

Myelodysplastic syndrome (MDS) cases comprise a heterogeneous group of hematological disorders that are characterized by impaired hematopoiesis, with cytopenias of different grades and risk of developing acute myeloid leukemia. MDS may rarely be associated with thrombocytosis. In such cases, myelodysplasia and myeloproliferative disorders may overlap, making correct diagnosis difficult. We herein describe a case of MDS with thrombocytosis, Janus kinase 2 gene mutation‑positive and Perls' staining‑negative, which was initially classified as essential thrombocythemia (ET). This case highlights that MDS may be misdiagnosed as ET and inappropriate treatment may be initiated. Therefore, it is crucial to carefully combine all available data on morphology and immunophenotyping, and to perform the necessary molecular, cytogenetic and molecular cytogenetic analyses, in order to correctly diagnose this disease.
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1 

Garcia-Manero G: Myelodysplastic syndromes: 2015 Update on diagnosis, risk-stratification and management. Am J Hematol. 90:831–841. 2015. View Article : Google Scholar : PubMed/NCBI

2 

Nimer SD: Myelodysplastic syndromes. Blood. 111:4841–4851. 2008. View Article : Google Scholar : PubMed/NCBI

3 

Brunning RD, Orazi A, Germing U, Le Beau Porwit, Baumann I, Vardiman JW and Hellstrom-Lindberg E: Myelodysplastic syndromes/neoplasms, overview. WHO Classification of Tumours of Haematopoietic and Lymphoid Tissues. Swerdlow SH, Campo E, Harris NL, Jaffe ES, Pileri SA, Stein H, Thiele J and Vardiman JW: (4th). IARC Press. (Lyon). 87–93. 2008.

4 

Foucar K: Myelodysplastic/myeloproliferative neoplasms. Am J Clin Pathol. 132:281–289. 2009. View Article : Google Scholar : PubMed/NCBI

5 

Sekeres MA: The epidemiology of myelodysplastic syndromes. Hematol Oncol Clin North Am. 24:287–294. 2010. View Article : Google Scholar : PubMed/NCBI

6 

Cabello AI, Collado R, Ruiz MA, Martínez J, Navarro I, Ferrer R, Sosa AM and Carbonell F: A retrospective analysis of myelodysplastic syndromes with thrombocytosis: Reclassification of the cases by WHO proposals. Leuk Res. 29:365–370. 2005. View Article : Google Scholar : PubMed/NCBI

7 

Greenberg P, Cox C, LeBeau MM, Fenaux P, Morel P, Sanz G, Sanz M, Vallespi T, Hamblin T, Oscier D, et al: International prognostic scoring system for evaluating prognosis in myelodysplastic syndromes. Blood. 89:2079–2088. 1997.PubMed/NCBI

8 

Greenberg PL, Tuechler H, Schanz J, Sanz G, Garcia-Manero G, Solé F, Bennett JM, Bowen D, Fenaux P, Dreyfus F, et al: Revised international prognosis scoring system for myelodysplastic syndromes. Blood. 120:2454–2465. 2012. View Article : Google Scholar : PubMed/NCBI

9 

Haase D, Germing U, Schanz J, Pfeilstöcker M, Nösslinger T, Hildebrandt B, Kundgen A, Lübbert M, Kunzmann R, Giagounidis AA, et al: New insights into the prognostic impact of the karyotype in MDS and correlation with subtypes: Evidence from a core dataset of 2124 patients. Blood. 110:4385–4395. 2007. View Article : Google Scholar : PubMed/NCBI

10 

Moyo V, Lefebvre P, Duh MS, Yektashenas B and Mundle S: Erythropoiesis-stimulating agents in the treatment of anemia in myelodysplastic syndromes: A meta-analysis. Ann Hematol. 87:527–536. 2008. View Article : Google Scholar : PubMed/NCBI

11 

List A, Dewald G, Bennett J, Giagounidis A, Raza A, Feldman E, Powell B, Greenberg P, Thomas D, Stone R, et al: Lenalidomide in the myelodysplastic syndrome with chromosome 5q deletion. N Engl J Med. 355:1456–1465. 2006. View Article : Google Scholar : PubMed/NCBI

12 

Fenaux P, Giagounidis A, Selleslag D, Beyne-Rauzy O, Mufti G, Mittelman M, Muus P, Te Boekhorst P, Sanz G, Del Cañizo C, et al: A randomized phase 3 study of lenalidomide versus placebo in RBC transfusion-dependent patients with low-/intermediate-1 risk myelodysplastic syndromes with del5q. Blood. 118:3765–3776. 2011. View Article : Google Scholar : PubMed/NCBI

13 

Fenaux P and Adès L: How we treat lower-risk myelodysplastc syndromes. Blood. 121:4280–4286. 2013. View Article : Google Scholar : PubMed/NCBI

14 

Fenaux P, Haase D, Sanz GF, Santini V and Buske ESMO: Guidelines Working Group: Myelodysplastic syndromes: ESMO clinical practice guidelines for diagnosis, treatment and follow-up. Ann Oncol. 25(Suppl 3): iii57–iii69. 2014. View Article : Google Scholar : PubMed/NCBI

15 

Garcia-Manero G: Myelodysplastic syndromes: 2014 update on diagnosis, risk-stratification, and management. Am J Hematol. 89:97–108. 2014. View Article : Google Scholar : PubMed/NCBI

16 

Jeromin S, Haferlach T, Weissmann S, Meggendorfer M, Eder C, Nadarajah N, Alpermann T, Kohlmann A, Kern W, Haferlach C and Schnittger S: Refractory anemia with ring sideroblasts and marked thrombocytosis cases harbor mutations in SF3B1 or other spliceosome genes accompanied by JAK2V617F and ASXL1 mutations. Haematologica. 100:e125–e127. 2015. View Article : Google Scholar : PubMed/NCBI

17 

Murphy S, Peterson P, Iland H and Laszlo J: Experience of the Polycythemia Vera study group with essential thrombocythemia: A final report on diagnostic criteria, survival, and leukemic transition by treatment. Semin Hematol. 34:29–39. 1997.PubMed/NCBI

18 

Steensma DP: JAK2 V617F in myeloid disorders: Molecular diagnostic techniques and their clinical utility: A paper from the 2005 William Beaumont Hospital Symposium on Molecular Pathology. J Mol Diagn. 8:397–411. 2006. View Article : Google Scholar : PubMed/NCBI

19 

Vardiman JBR, Bennett JM, Bain BJ, Baumann I, Thiele J and Orazi A: Myelodysplastic/myeloproliferative neoplasm, unclassifiable. WHO Classification of Tumours of Haematopoietic and Lymphoid Tissues. Swerdlow SH, Campo E, Harris NL, Jaffe ES, Pileri SA, Stein H, Thiele J and Vardiman JW: IARC Press. (Lyon). 85–86. 2008.

20 

Orazi A and Germing U: The myelodysplastic/myeloproliferative neoplasms: Myeloproliferative diseases with dysplastic features. Leukemia. 22:1308–1319. 2008. View Article : Google Scholar : PubMed/NCBI

21 

Szpurka H, Tiu R, Murugesan G, Aboudola S, Hsi ED, Theil KS, Sekeres MA and Maciejewski JP: Refractory anemia with ringed sideroblasts associated with marked thrombocytosis (RARS-T), another myeloproliferative condition characterized by JAK2 V617F mutation. Blood. 108:2173–2181. 2006. View Article : Google Scholar : PubMed/NCBI

22 

Malcovati L and Cazzola M: Refractory anemia with ring sideroblasts. Best Pract Res Clin Haematol. 26:377–385. 2013. View Article : Google Scholar : PubMed/NCBI

23 

Patnaik MM and Tefferi A: Refractory anemia with ring sideroblasts and RARS with thrombocytosis. Am J Hematol. 90:549–559. 2015. View Article : Google Scholar : PubMed/NCBI

24 

Mikoczy Z, Schütz A and Hagmar L: Cancer incidence and mortality among Swedish leather tanners. Occup Environ Med. 51:530–535. 1994. View Article : Google Scholar : PubMed/NCBI

25 

Mikoczy Z, Schütz A, Strömberg U and Hagmar L: Cancer incidence and specific occupational exposures in the Swedish leather tanning industry: A cohort based case-control study. Occup Environ Med. 53:463–467. 1996. View Article : Google Scholar : PubMed/NCBI

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Copy and paste a formatted citation
Spandidos Publications style
Ornellas MH, de França Silva M, Solza C, de Lucena Gonçalves SS, de Almeida LS, Ayres‑Silva Jd, Seixas TL, Bastos EF, Liehr T, Alves G, Alves G, et al: Myelodysplastic syndrome without ring sideroblasts and with Janus kinase 2 gene mutation: An unusual case report. Mol Clin Oncol 5: 227-230, 2016.
APA
Ornellas, M.H., de França Silva, M., Solza, C., de Lucena Gonçalves, S.S., de Almeida, L.S., Ayres‑Silva, J.d. ... Alves, G. (2016). Myelodysplastic syndrome without ring sideroblasts and with Janus kinase 2 gene mutation: An unusual case report. Molecular and Clinical Oncology, 5, 227-230. https://doi.org/10.3892/mco.2016.947
MLA
Ornellas, M. H., de França Silva, M., Solza, C., de Lucena Gonçalves, S. S., de Almeida, L. S., Ayres‑Silva, J. d., Seixas, T. L., Bastos, E. F., Liehr, T., Alves, G."Myelodysplastic syndrome without ring sideroblasts and with Janus kinase 2 gene mutation: An unusual case report". Molecular and Clinical Oncology 5.3 (2016): 227-230.
Chicago
Ornellas, M. H., de França Silva, M., Solza, C., de Lucena Gonçalves, S. S., de Almeida, L. S., Ayres‑Silva, J. d., Seixas, T. L., Bastos, E. F., Liehr, T., Alves, G."Myelodysplastic syndrome without ring sideroblasts and with Janus kinase 2 gene mutation: An unusual case report". Molecular and Clinical Oncology 5, no. 3 (2016): 227-230. https://doi.org/10.3892/mco.2016.947
Copy and paste a formatted citation
x
Spandidos Publications style
Ornellas MH, de França Silva M, Solza C, de Lucena Gonçalves SS, de Almeida LS, Ayres‑Silva Jd, Seixas TL, Bastos EF, Liehr T, Alves G, Alves G, et al: Myelodysplastic syndrome without ring sideroblasts and with Janus kinase 2 gene mutation: An unusual case report. Mol Clin Oncol 5: 227-230, 2016.
APA
Ornellas, M.H., de França Silva, M., Solza, C., de Lucena Gonçalves, S.S., de Almeida, L.S., Ayres‑Silva, J.d. ... Alves, G. (2016). Myelodysplastic syndrome without ring sideroblasts and with Janus kinase 2 gene mutation: An unusual case report. Molecular and Clinical Oncology, 5, 227-230. https://doi.org/10.3892/mco.2016.947
MLA
Ornellas, M. H., de França Silva, M., Solza, C., de Lucena Gonçalves, S. S., de Almeida, L. S., Ayres‑Silva, J. d., Seixas, T. L., Bastos, E. F., Liehr, T., Alves, G."Myelodysplastic syndrome without ring sideroblasts and with Janus kinase 2 gene mutation: An unusual case report". Molecular and Clinical Oncology 5.3 (2016): 227-230.
Chicago
Ornellas, M. H., de França Silva, M., Solza, C., de Lucena Gonçalves, S. S., de Almeida, L. S., Ayres‑Silva, J. d., Seixas, T. L., Bastos, E. F., Liehr, T., Alves, G."Myelodysplastic syndrome without ring sideroblasts and with Janus kinase 2 gene mutation: An unusual case report". Molecular and Clinical Oncology 5, no. 3 (2016): 227-230. https://doi.org/10.3892/mco.2016.947
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