Role of autoimmune hemolytic anemia as an initial indicator for chronic myeloid leukemia: A case report

Abstract

Introduction: We report here the case of a patient with chronic myeloid leukemia (CML) in the chronic phase who was diagnosed 1 year after receiving a diagnosis of autoimmune hemolytic anemia (AIHA). The objective was to assess if the CML patient progressed from AIHA and explore the underlying factors of the poor outcome after the achievement of molecular complete remission (MCR).

Patient concerns: A patient with AIHA underwent splenectomy because of poor response to immune inhibitors. The spleen biopsy showed reactive hyperplasia.

Diagnosis: The patient was diagnosed with CML because of over-expression of the BCR-ABL (P210) gene in the bone marrow (BM), 1 year after receiving the diagnosis of AIHA.

Interventions: The splenectomy was performed as the patient was unresponsive to the standard treatments consisting of immunoglobulin and dexamethasone. The removed spleen was sent for pathological examination. After she was diagnosed with CML, she received imatinib treatment.

Outcomes: The spleen biopsy confirmed the translocation of 22q11/9q34. No BCR-ABL kinase domain mutation was detected and there was no expression of the WT1 or EVI1 genes. After splenectomy, the number of peripheral white blood cells was consistently higher than normal during the total therapy time for CML even though she showed MCR. Two years after CML was diagnosed, the patient died from severe infection. The BM gene array analysis displayed 3 types of chromosomal abnormalities: gain (14q32.33), uniparental disomy (UPD) Xp11.22-p11.1), and UPD Xp11.1-q13.1.

Lessons: AIHA may be a clinical phase of CML progression in this patient. Both splenectomy and prolonged oral tyrosine kinase inhibitors may have contributed to the high risk of infection and her subsequent death. In addition, the gain of chromosome 14q32.33 may be related to her poor outcome.

Figure 1

Fluorescent in-situ hybridization (FISH) was performed according to manufacturer instructions by using the BCR/ABL dual color, dual fusion translocation probe. The BCR/ABL probe, when hybridized to a cell containing t (9; 22) (q34;q11), is expected to result in a pattern of a red signal on normal chromosome 9 and a green signal on normal chromosome 22.

Figure 2

Gene microarray was examined in bone marrow of this case. Gain of 14q32.33 was detected; it includes 642 kilobase (kb) with 3 copy number states.

Figure 3

The diagnosis and treatment process for this patient. firstly, the spleen histopathology was displayed as reactive hyperplasia. One year later, the CML was diagnosed based on BM morphology, cytogenetics, and molecular biology. The spleen biopsy was explored again and 22q11/9q34 expression was detected this time. BM = bone marrow. CML = chronic myeloid leukemia. CML = chronic myeloid leukemia.