Case 366

Submitting Author: Alagiozian-Angelova, Victoria Missak, MD
Institution: John H Stroger Jr. Hospital of Cook County
Additional authors:Paula Kovarik, MD, Mosami Shah, MD
Session: AML with myelodysplasia-related changes

HISTORY

73 year old Polish woman presented with severe normocytic normochromic anemia of undetermined etiology. She was previously treated with iron pills and B12, and folate intermittently. In addition she complained of generalized weakness and occasional dyspepsia, with no bleeding and no weight loss. Labs showed Hgb of 7g/dL, Hct 20%, MCV 88FL, RDW 22%, retic 1.3%, Platelets 335k/uL. She had Ferritin of 357mg/ml (13-150); B12 of 1168pg/ml (243-894), follate of >20ng/ml (3.1-17.5) and erythropoietin level of 436mI/mL (4.2-27.8).

DETAILS

Bone marrow biopsy was performed on right posterior iliac crest which was fixed in 10% buffered formalin and lightly decalcified. The aspirate showed normocellular marrow for age (50%) with trilineage hematopoiesis (M:E=3:1), mildly megaloblastoid erythropoiesis and small hypolobated megakaryocytes (Fig 1). Blasts were not increased. Differential count, performed on 300 cells, showed blast 1%, promyelocytes 6%, myelocytes 8%, metamyelocytes 7%, basophils 3%, plasma cells 1%, eosinophils 6%, monocytes 8%, lymphocytes 15%, bands 8%, neutrophils 16%, erythroid precursors 21% (M:E=3:1). The core biopsy had similar findings with most prominent feature being small hypolobated megakaryocytes (Fig 2). The iron stain showed adequate to slightly increased iron stores with sideroblastic iron and rare ringed sideroblasts (<5%), (Fig 3).

IMMUNOHISTOCHEMISTRY AND FLOW CYTOMETRY

Flow cytometric analysis of bone marrow aspirate did not show abnormal populations.

CYTOGENETIC FINDINGS

FISH studies showed deletion of the long arm of chromosome 5 in 36% of interphase nuclei del(5)(q31).

Subsequent chromosome analysis demonstrated an abnormal karyotype due to deletion of long arm of chromosome 5 and other abnormalities:

46, XX, del(5)(q13q33)[14]/46, sl, der(11)t(1;11)(q25;p15)[4]/43, sl, trc(6;2;17)(p11.2;p23;p11.2), -10[2].

All cells analysed contained deletion of the long arm of chromosome 5. Of all these cells with del(5q), 4(20%) and 2(10%) cells also had derivative chromosome 11 consisting of chromosomes 1 and 11 and a tricentric chromosome consisting of chromosomes 2,6 and 17, and a loss of one copy of chromosome 10 respectively.

MOLECULAR FINDINGS

Not performed.

INTERESTING FEATURES

This patient presented with refractory anemia, was transfusion dependent, requiring transfusion of red blood cells every month and her bone marrow was initially suggestive of MDS with isolated del(5q). However due to the complex karyotype, and the dysplasia in erythroid and megakaryocytic lineages, it is best classifiedas Refractory cytopenia (anemia) with multilineage displasia. The patient was placed on Revlimid and did well, she did not require transfusions for 2-3 months. However she became thrombocytopenic (38-53k/uL) with slow recovery but not needing platelet transfusions. Unfortunately she was lost to follow-up.

PROPOSED DIAGNOSIS

Refractory cytopenia with multilineage displasia.

CONSENSUS DIAGNOSIS

Refractory cytopenia with multilineage dysplasia