Institution: University of Florida
Additional authors:Ying Li MD, PhD, Samer Z. Al-Quran, MD
Session: AML with myelodysplasia-related changes
HISTORY
18 year old female who originally presented with pancytopenia and gingival hyperplasia. Original bone marrow biopsy done 5 months prior found increased abnormal myeloblasts (approximately 10%) with likely myelodysplastic syndrome. Patient is now three months pregnant and presents for bone marrow biopsy.
DETAILS
Received a formalin fixed, decalcified bone marrow core biopsy and aspirate material collected in an EDTA tube. The bone marrow aspirate smears were aspicular and markedly hemodilute and suboptimal for evaluation. However they showed relative increased numbers of blasts with immature chromatin, large nuclei, and prominent nucleoli. The touch preparation and cytospin showed similar cellular composition.
The decalcified bone marrow core biopsy was variably hypocellular (5-20% cellularity) with multilineage hematopoiesis, focal stromal damage and increased hemosiderin deposition. A few islands of erythroid maturation scattered throughout were seen but appeared to be distorted. The myeloid and erythroid were left shifted. Megakaryocytes were decreased and included occasional atypical forms with small hypolobated nuclei. Reticulin stain did not show increased reticulin fibrosis.IMMUNOHISTOCHEMISTRY AND FLOW CYTOMETRY
Immunohistochemistry for CD34 shows increased numbers of blasts that comprise approximately 20-25% of the marrow cellularity with focal clustering. The blasts show variable expression of CKIT.
Flow cytometry identified an abnormal population of blasts that are positive for CD34, CD15, CD33, and dim C-KIT, without expression of CD13.CYTOGENETIC FINDINGS
45,XX,-7[6]/46,XX[14]. FISH panels were normal.
MOLECULAR FINDINGS
None performed
INTERESTING FEATURES
A young woman with Monosomy 7 who presented with hypocellular MDS that developed to an acute leukemia during pregnancy.
PROPOSED DIAGNOSIS
Acute myeloid leukemia evolving from an underlying hypoplastic myelodysplastic syndrome
CONSENSUS DIAGNOSIS
Acute myeloid leukemia with myelodysplasia-related changes, arising from myelodysplastic syndrome
| Cytospin preparation with increased myeloblasts |  |
| Low power (40x) view of core biopsy, highlighting hypocellular nature of marrow |  |
| Bone marrow core biopsy at 400x |  |
| CD34 immunohistochemical study highlights increased myeloblasts |  |
| Flow Cytometry plot highlighting increased CD34+ myeloblasts |  |