ABSTRACT
De novo acute basophilic leukemia (ABL) is a rare form of myeloid leukemia. The low prevalence of ABL makes it difficult to define its clinical characteristics and to establish an effective therapeutic protocol. We present here a case of de novo ABL in a 64-year-old Japanese man. The diagnosis of ABL depended on the following: (1) metachromasia with toluidine blue stain, (2) intracytoplasmic theta granules identified by electron microscopy, and (3) findings obtained from extensive immunophenotypic analysis. Although blast cells lacked basophil-specific antigens such as CDw17, CD88, and FcepsilonRI, an expression profile of cytokine receptors including CD116 (GM-CSF receptor), CD117 (c-kit), and CD123 (IL-3 receptor alpha) helped to define the cellular lineage in our case. The patient achieved complete remission with intensive chemotherapy composed of idarubicin and cytosine arabinoside and was disease free during the following 30 months. We propose that immunophenotyping, especially focusing on cytokine receptors, is useful in diagnosing ABL.
Subject(s)
Antigens, CD/blood , Antineoplastic Combined Chemotherapy Protocols/therapeutic use , Leukemia, Basophilic, Acute/diagnosis , Mast Cells/immunology , Receptors, Cytokine/genetics , Bone Marrow/pathology , Cytarabine/administration & dosage , Diagnosis, Differential , Humans , Idarubicin/administration & dosage , Leukemia, Basophilic, Acute/blood , Leukemia, Basophilic, Acute/drug therapy , Leukemia, Basophilic, Acute/immunology , Male , Mast Cells/pathology , Middle Aged , Receptors, IgE/bloodABSTRACT
We identified a Japanese family with a beta-thalassaemia trait and hereditary elliptocytosis (HE). We studied five members of this family. One was normal, one had only the beta-thalassaemia trait, one had heterozygous HE, and two had compound heterozygous beta-thalassaemia trait and HE. The last two had already undergone splenectomy. The molecular profile of beta-thalassaemia was consistent with that of Hb Gunma: codon 127/128CAGGCT(Gln-Ala)--> CCT(Pro). Analysis of erythrocyte membrane proteins revealed a partial deficiency of protein 4.1 in all those with HE, whereas the spectrin content was within the normal range. Each heterozygous family member with either the beta-thalassaemia trait or HE was asymptomatic, whereas the two with both beta-thalassaemia and HE had marked red blood cell deformities and haemolysis. The abnormalities of the red blood cells in patients with the beta-thalassaemia trait might be enhanced by association with HE owing to a protein 4.1 deficiency.
