Acute Myeloid Leukemia with Myelodysplasia-Related Changes Presenting as Vitamin B12 Deficiency: A Cautionary Tale

Catherine Gereg; Joanna L Conant; Sakshi Jasra; Katherine A Devitt; Juli-Anne Gardner

Acute Myeloid Leukemia with Myelodysplasia-Related Changes Presenting as Vitamin B12 Deficiency: A Cautionary Tale

J Assoc Genet Technol. 2021;47(4):218-223.

Authors

Catherine Gereg¹, Joanna L Conant^{1

2}, Sakshi Jasra^{1

3}, Katherine A Devitt^{1

2}, Juli-Anne Gardner^{1

2}

Affiliations

¹ Larner College of Medicine, University of Vermont, Burlington, VT.
² Department of Pathology and Laboratory Medicine, University of Vermont Medical Center, Burlington, VT.
³ Department of Hematology and Oncology, University of Vermont Medical Center, Burlington, VT.

PMID: 34897112

Abstract

Acute myeloid leukemia may present with significant dysmyelopoiesis within the peripheral blood smear and bone marrow aspirate. In the setting of Vitamin B12 deficiency, proliferation of a clonal population of malignant cells can become impaired, masking an underlying myelodysplastic or leukemic process. Typically, the cautionary tale warns against diagnosing acute myeloid leukemia before ruling out Vitamin B12 deficiency. Here we describe a patient who initially presented with pancytopenia and Vitamin B12 deficiency who, upon supplementation, developed overt acute myeloid leukemia. This case will highlight the importance of cytogenetic and molecular studies as essential diagnostic tools in patients with unique presentations.