Abstract

We report two interesting cases of patients with multiple myeloma, who developed a therapy-related myeloid neoplasm in the form of pure erythroid leukemia. In both cases, it was difficult to differentiate the erythroid blasts from plasma blasts by morphology alone. The diagnostic picture was further confounded by the presence of a hyperdiploid karyotype (case 1), which is a frequent cytogenetic abnormality in multiple myeloma but distinctly uncommon in acute myeloid leukemia. These cases highlight the diagnostic challenge encountered with pure erythroid leukemia in the setting of multiple myeloma, and underscore the importance of immunohistochemistry, cytogenetics, and gene rearrangement studies in resolving the diagnostic conundrum. To the best of our knowledge pure erythroid leukemia with a hyperdiploid karyotype arising in a background of pre-existing multiple myeloma, has not previously been reported.

Highlights

  • Pure Erythroid Leukemia (PEL) is a rare form of acute myeloid leukemia (AML) characterized by neoplastic proliferation of immature cells restricted to the erythroid lineage [1,2,3]

  • The majority of the reported cases were classified as AML with myelodysplasia-related changes either because they evolved from a previous Myelodysplastic Syndrome (MDS), or because they had cytogenetic abnormalities frequently associated with MDS

  • It is uncommon for PEL to occur as a therapy-related Myeloid Neoplasm (t-MN); PEL as a t-MN has been described in patients previously treated for precursor B-lymphoblastic leukemia [5], chronic lymphocytic leukemia [6], solid tumors [7], and myeloma [8]

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Summary

Introduction

Pure Erythroid Leukemia (PEL) is a rare form of acute myeloid leukemia (AML) characterized by neoplastic proliferation of immature cells restricted to the erythroid lineage [1,2,3]. The rarity of PEL coupled with the lack of erythroid-lineage-specific markers, frequent occurrence of early myeloid antigens on erythroid precursors, and an undifferentiated morphology makes distinction from minimally differentiated AML (M0) challenging.

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