Genomic imbalances in peripheral blood confirm the diagnosis of myelodysplastic syndrome in a patient presenting with non-immune hemolytic anemia.
Myelodysplastic syndrome (MDS) is a clonal stem-cell disorder characterized by dyshematopoiesis. We report a patient who presented with cytopenias and microangiopathic hemolytic anemia. Chromosome microarray analysis (CMA), using single nucleotide polymorphism arrays, on peripheral blood revealed genomic imbalances indicative of MDS, which was confirmed by bone marrow examination. This report highlights the importance of suspecting MDS in patients with cytopenias and microangiopathic hemolytic anemia. CMA of peripheral blood may assist in the preliminary diagnosis of MDS, representing a comparatively less invasive diagnostic procedure and may aid bone marrow evaluation when an aspirate sample is insufficient for conventional cytogenetic analysis.
Medical College, Aga Khan University, Karachi, Pakistan; Department of Medical Oncology, Fox Chase Cancer Center - Temple University Health System, Philadelphia, PA 19111, USA.
Mohammad Faizan
MF
Zahid
Department of Medical Oncology, Fox Chase Cancer Center - Temple University Health System, Philadelphia, PA 19111, USA.
Nadia
N
Khan
Cancer Biology Program, Fox Chase Cancer Center - Temple University Health System, Philadelphia, PA 19111, USA.
Jianming
J
Pei
Cancer Biology Program, Fox Chase Cancer Center - Temple University Health System, Philadelphia, PA 19111, USA.
Joseph R
JR
Testa
Department of Pathology, Fox Chase Cancer Center - Temple University Health System, 333 Cottman Avenue, Philadelphia, PA, USA.
Essel
E
Dulaimi
Chromosomal microarray analysis; Myelodysplastic syndrome; Peripheral blood; Single nucleotide polymorphism; Whole genome scanning