A Rare Case of Myelodysplastic Syndrome with Ring Sideroblasts, SF3B1 and TET2 Mutations in a Patient with Beta Thalassemia Trait 【Abstract】

[N A J Med Sci. 2017;10(1):31-34.   DOI:  10.7156/najms.2017.1001031]

Jeffrey Ahlstedt, MD; Yanhua Wang, MD, PhD; Yanan Fang, MD, PhD

Concurrent myelodysplastic syndrome (MDS) and β-thalassemia trait is rare. We reported a case of a 59-year-old man with a known history of β-thalassemia (presumed to be β-thalassemia intermedia) presenting with progressive anemia and worsening fatigue. β-globin mutation analysis revealed a heterozygous mutation in the beta-globin gene, compatible with β-thalassemia trait. Bone marrow biopsy showed erythroid hyperplasia and erythroid dysplasia with increased ring sideroblasts (>15%). Additionally, there is also mild myeloid and megakaryocytic dysplasia. Molecular analysis revealed SF3B1 and TET2 mutations. These findings are consistent with myelodysplastic syndrome with ring sideroblasts (MDS-RS). To the best of our knowledge, this is the first report of MDS-RS with SF3B1 and TET2 mutations in a patient heterozygous for β-globin gene mutation.   For β-thalassemia patients with worsening anemia, a comprehensive bone marrow analysis including cytogenetic and molecular studies is important to help further delineate the diagnosis.

Key Words: Myelodysplastic syndrome with ring sideroblasts, β-thalassemia, SF3B1, TET2, anemia


Jeffrey Ahlstedt, MD; Yanhua Wang, MD, PhD; Yanan Fang, MD, PhD*
Department of Pathology, Albert Einstein College of Medicine/Montefiore Medical Center, Bronx, NY

*Corresponding Author: Department of Pathology, Montefiore Medical Center/Albert Einstein College of Medicine, 600 East 233rd Street, Bronx, NY 10466. Tel: 718-920-9150, Fax: 718-920-9379.
(Email: yfang@montefiore.org)

The authors have no conflicts of interest to disclose.


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