Clinical Characteristics and Diagnosis of Chronic Myelogenous Leukemia with Rare Karyotype.

Background: The aim was to investigate the clinical features and diagnostic methods of chronic myelogenous leukemia with rare karyotype.

Methods: The clinical features and diagnostic methods of a case of chronic myelogenous leukemia with rare karyotype were retrospectively analyzed, including a comprehensive review of the literature.

Results: The patient is a young male, 36 years old. Four years ago, he was treated for elevated white blood cell count. Bone marrow cell morphology, cytogenetics, and molecular biology confirmed the diagnosis of BCR-ABL1 fusion gene positive and t (16; 22) Translocated chronic myelogenous leukemia chronic period. Treatment with standard first-line drug imatinib was effective. Two years ago, the reexamination of routine blood routine showed elevated white blood cells. Considering the resistance to the first-generation targeting drug imatinib, a change was made to administer the second-generation targeting drug nilotinib, and the patient was discharged to recuperate. After discharge, the changes in routine blood routine were monitored and adverse reactions were observed. Recently, the patient developed loss of appetite with nausea and vomiting, intermittent fever, further treatment and admission. Leukocytes continued to increase, platelets decreased, and perioral numbness and gingiva bleeding appeared. The diagnosis was confirmed by bone marrow cell morphology, immunology, cytogenetics, and molecular biology, which was considered to be associated with BCR-ABL1 fusion gene positive and t (9; 22) accelerated period of translocation chronic myelogenous leukemia. After chemotherapy with cytarabine, leukocytes decreased significantly and platelets increased gradually. After chemotherapy, the patient had poor mental state, general fatigue and discomfort, poor appetite, intermittent headache and discomfort, and head CT showed subdural hematoma. Headache worsened and left limb weakness occurred. Reexamination of head CT indicated that subdural hematoma was larger than before, considering increased bleeding and greater risk of cerebral hernia, the patient's family requested to be transferred to a superior hospital for further treatment and asked the superior doctor to discharge him automatically.

Conclusions: The BCR-ABL1 fusion gene and t (16;22) are rare in chronic myeloid leukemia, easily resistant to imatinib, and complex chromosomal translocations have great influence on the curative effect and prognosis.