A Rare Case of Myelodysplastic Syndrome with Refractory Thrombocytopenia.
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 JAK2 V617F mutation), who in despite of appropriate evidenced based treatment, continued to exhibit refractory thrombocytopenia.
Raritan Bay Medical Center , Perth Amboy, NJ, USA.
Waqas
W
Jehangir
Ross University School of Medicine , Portsmouth, Dominica.
John
J
Webb
Raritan Bay Medical Center , Perth Amboy, NJ, USA.
Shilpi
S
Singh
Raritan Bay Medical Center , Perth Amboy, NJ, USA.
Sabrina
S
Arshed
Raritan Bay Medical Center , Perth Amboy, NJ, USA.
Shuvendu
S
Sen
Raritan Bay Medical Center , Perth Amboy, NJ, USA.
Abdalla
A
Yousif
MDS; Thrombocytopenia; malignancy; myelodysplasia; refractory