Institution: William Osler Health System, Brampton Civic Hospital
Session: AML with myelodysplasia-related changes
HISTORY
62 year old female, past history of coronary artery and peripheral vascular disease, diabetes mellitus and hypothyroidism, presented 4/2012 with unexplained cytopenias, including the following CBC findings: WBC 10.5, Hb 9.0, MCV 104.6, RDW 20.3, absolute reticulocytes 44, absolute neutrophils 5.1, lymphocytes 3.5, monocytes 0.11, eosinophils 0.63, and basophils 0.16. Bone marrow biopsy was performed. Subsequent course complicated by hospital admission 5/2012 with hypotension and GI symptoms, ultimate diagnosis of ischemic colitis following endoscopic biopsy. Ecchymotic skin lesions also noted, biopsy of which did not yield a specific diagnosis. On 6/18/12 a follow-up CBC was remarkable for numerous circulating blasts. The patient refused a second bone marrow biopsy. During the subsequent work-up, the patient was found unresponsive and could not be resuscitated.
DETAILS
Peripheral blood, 4/2012 (Wright-Giemsa): bizarrely dysplastic neutrophils, basophils and eosinophils, including markedly enlarged, frankly hypersegmented cells; no circulating blasts identified.
Bone marrow aspirate, 4/2012 (Wright-Giemsa): myeloid excess (M:E of 7:1), including eosinophilia (18%), basophilia (13%) and blast excess (5%). Markedly enlarged granulocytes and monocytes, including frankly hypersegmented cells. Occasional erythroid precursors and megakaryocytes with dysplastic features. Occasional ring sideroblasts (<<15%). Bone marrow biopsy, 4/30/12 (formalin-fixed, H&E and reticulin stains): hypercellular, myeloid excess, mild reticulin fibrosis.Peripheral blood, 6/2012 (Wright-Giemsa): circulating blasts of 22%.IMMUNOHISTOCHEMISTRY AND FLOW CYTOMETRY
Flow cytometry, peripheral blood, 6/2012, demonstrated an expanded myeloblast population (20% of total cells), with the following features: CD45+ (dim), CD34+, CD117+ (dim-moderate), CD11c+ (dim), CD13+ (dim), CD33+ (dim), CD38+ (subset, dim), CD5+ (subset, dim), CD7+ (subset, dim), CD56+ (subset, dim), CD2-, surface CD3-, CD10-, CD14-, CD19-, CD20-, CD22-.
CYTOGENETIC FINDINGS
45,XX,del(5)(q13),add(15)(q15),add(18)(q21.1)[9]/46,XX[11]
MOLECULAR FINDINGS
Not done
INTERESTING FEATURES
Presentation with myelodysplastic syndrome (RAEB-1), featuring abundance of dysplastic “macropolycytes”, rapid progression to frank AML
PROPOSED DIAGNOSIS
1. Myelodysplastic syndrome, consistent with RAEB-1 (4/2012)
2. AML with myelodysplasia-related changes (6/2012)CONSENSUS DIAGNOSIS
Acute myeloid leukemia with myelodysplasia-related changes, arising from myelodysplastic syndrome