Chronic Myelomonocytic Leukemia Associated with Hereditary Pyruvate Kinase Deficiency and Multiple Acquired Erythrocyte Abnormalities

Abstract

A congenital erythrocyte pyruvate kinase (PK) deficiency was found in a 72-year-old female patient with chronic myelomonocytic leukemia (CMML). Erythrocyte PK deficiency was associated with an increase in the activity of hexokinase, 6-phospho-gluconate dehydrogenase and glutathione peroxidase in erythrocytes as well as a decrease in acetylcholinesterase, glutathione reductase and glucosephosphate isomerase activities. The enzymatic abnormalities were accompanied by alterations in hemoglobin and in i antigen content of erythrocyte membrane. In addition, bone marrow ultrastructural studies showed dyshemopoietic changes in all blood cell lines and especially in erythroblasts. The present findings confirm the close relationship between CMML and acquired dyserythropoietic syndromes and constitute a new observation of the infrequent association of hereditary erythrocyte enzymopathies and leukemia. A survey of the literature is presented.

Erythrocyte pyruvate kinase deficiency: 2015 status report

“…Leg ulcers, similar to those reported in patients with sickle cell disease and hereditary spherocytosis, have been reported . Two reported PKD patients have developed bone marrow abnormalities at older ages, including a 70 year old who developed myelodysplasia with refractory anemia with ringed sideroblasts and 72 year old who developed chronic myelomonocytic leukemia . Some have hypothesized that chronic ineffective erythropoiesis and hemolysis may predispose to clonal abnormalities, but this has not been verified for other types of anemias with similar hematologic findings .…”