Pancytopenia in an Elderly Female: From Morphology to FISH

Midhun Malla, M.D, Lee J. McGhan, M.D, Tania E. Cortas, M.D, Priya Radhakrishnan, M.D
August 22, 2014

An 83 year old female with a past medical history of chronic degenerative joint disease, hypertension and atrial fibrillation presented to the hospital following multiple falls at home.  She complained of a two week history of increased fatigue, dysuria and decreased ability to perform daily activities. She reported feeling dizzy and fell after standing from a sitting position. Examination revealed multiple ecchymoses over her bilateral upper extremities and forehead. A complete blood count revealed pancytopenia with hemoglobin of 5.0 g/dL, white cell count of 2.5 x 103/µL with 37% neutrophils, and a platelet count of 35 x 103/µL. On further questioning, the patient reported that her cell counts four months ago were within normal limits and that she recently completed a course of Trimethoprim-sulfamethoxazole for dysuria.
A peripheral blood smear demonstrated rare circulating blasts (2%), scattered hypogranular neutrophils with occasional binucleation, and occasional tear drop cells. A bone marrow biopsy demonstrated a hypercellular marrow for the patient’s age (50% cellular) with 24% blasts, small, hypolobated megakaryocytes and occasional red cell precursors with nuclear budding and karyorrhexis. Fluorescence in-situ hybridization (FISH) demonstrated a deletion of chromosome 5q. Routine cytogenetics demonstrated a complex karyotype including deletion of 5q.  
Images of a peripheral smear showing hypogranular neutrophil, deletion of chromosome 5q by FISH and bone marrow core demonstrating marrow hypercellularity are shown below.

Click to view answer

References
1.  World Health Organization Classification of Tumours of Haematopoietic and Lymphoid Tissues, Swerdlow SH, Campo E, Harris NL (Eds), IARC Press, Lyon 2008.
 
2.  Weinberg OK, Seetharam M, Ren L, et al. Clinical characterization of acute myeloid leukemia with myelodysplasia-related changes as defined by the 2008 WHO classification system. Blood 2009; 113:1906.
 
Brief Biography of Authors:
Midhun Malla is a first year Internal Medicine resident at St. Joseph’s Hospital and Medical Center in Phoenix, Arizona.
Lee J.McGhan is a third year Pathology resident at St.Joseph’s Hospital and Medical Center in Phoenix, Arizona.
Tania E. Cortas is a practicing Hematology - Oncologist at St. Joseph’s Hospital and Medical Center in Phoenix, Arizona.
Priya Radhakrishnan is a practicing Internist and the Robert Craig Academic Chair of Internal Medicine at St. Joseph’s Hospital and Medical Center in Phoenix, Arizona.