ABSTRACT
BACKGROUND: The purpose of this report is to enhance our scientific understanding of the clinicopathologic features of chronic myeloid leukemia (CML) with the e12a3 transcript and to provide insights into potential treatment options for this rare subtype of CML. CASE SUMMARY: We present the case of a 21-year-old Chinese male patient who was diagnosed with chronic myeloid leukemia (CML) with the e12a3 transcript. Biopsy of his left iliac soft tissue mass indicated that he was in the blast crisis phase of CML. The patient was treated with tyrosine kinase inhibitor (TKI) drugs and achieved remission, but relapsed soon after. Despite receiving prognostic chemotherapy, the disease progressed and eventually led to the patient's death. CONCLUSION: To avoid missed diagnosis and misdiagnosis, it is recommended to conduct a thorough clinical evaluation and actively identify the underlying etiology.
Subject(s)
Fusion Proteins, bcr-abl , Leukemia, Myelogenous, Chronic, BCR-ABL Positive , Male , Humans , Young Adult , Adult , Fusion Proteins, bcr-abl/genetics , Leukemia, Myelogenous, Chronic, BCR-ABL Positive/diagnosis , Leukemia, Myelogenous, Chronic, BCR-ABL Positive/drug therapy , Leukemia, Myelogenous, Chronic, BCR-ABL Positive/genetics , Blast Crisis/genetics , Blast Crisis/drug therapy , Prognosis , Protein Kinase InhibitorsABSTRACT
BACKGROUND: The co-existence of Waldenström's macroglobulinemia (WM) with internodal marginal zone lymphoma (INMZL) is rare and often associated with poor prognosis. CASE SUMMARY: We present a Chinese female patient who developed secondary light chain amyloidosis due to WM and INMZL and provides opinions on its systemic treatment. A 65-year-old woman was diagnosed with WM 6 years ago and received Bruton tyrosine kinase inhibitor monotherapy for two years. Her INMZL was confirmed due to left cervical lymphadenopathy. The patient presented with oedema in both lower limbs one year ago, and was diagnosed with secondary light chain amyloidosis. Treatment with the BC regimen (rituximab 375 mg/m2 monthly for 6-8 courses, and bendamustine 90 mg/m2 per day × 2, monthly for six courses) was initiated, but not tolerated due to toxic side effects. Bortezomib-based therapy was given for two months, including bortezomib, dexamethasone, and zanubrutinb. Oedema in both lower limbs was relieved and treatment efficacy was evaluated as partial remission. CONCLUSION: A detailed clinical evaluation and active identification of the aetiology are recommended to avoid missed diagnosis and misdiagnosis.