A rare case of myelodysplastic syndrome with refractory thrombocytopenia

• الحاوية / القاعدة: Hematology Reports
• المؤلفون الرئيسيون: Waqas Jehangir, John Webb, Shilpi Singh, Sabrina Arshed, Shuvendu Sen, Abdalla Yousif
• التنسيق: مقال
• اللغة: الإنجليزية
• منشور في: MDPI AG 2015-09-01
• الموضوعات: Thrombocytopenia; myelodysplasia; refractory; MDS; malignancy
• الوصول للمادة أونلاين: http://www.pagepress.org/journals/index.php/hr/article/view/5897
• تدمد: 2038-8322; 2038-8330

Myelodysplastic syndromes (MDS) represent a variety of clonal abnormalities, possibly preleukemic and display numerous phenotypic manifestations. Specific mutations carry high morbidity and mortality rates due to cell line dysplasia. MDS commonly presents with symptoms related to anemia, and approximately two-thirds will develop thrombocytopenia, a rare, but potentially lethal complication that increases complexity in treatment and morbidity, and may be due to unique genetic mutations leading to refractory thrombocytopenia, ultimately leading to an overall reduction in survival. Careful identification and monitoring of this patient subdivision can significantly reduce morbidity and mortality, and potential identification of specific gene mutations and advances in treatment options will hopefully provide guidance on detecting at-risk patients in the future. We present a case of a man with MDS-U (karyotype 46, XY, del (20) (q11.2q13.3) (20) with no detected <em>JAK2</em> <em>V617F</em> mutation), who in despite of appropriate evidenced based treatment, continued to exhibit refractory thrombocytopenia.