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Extramedullary blast crisis as initial presentation in chronic myeloid leukemia with the e1a2 BCR-ABL1 transcript: A
1Department of Hematopathology, The University of Texas MD Anderson Cancer Center, Houston, TX 77030, USA; Department of Pathology, Scott and White Memorial Hospital, Texas A&M Health Science Center, Temple, TX 76508, USA.
Insights
This case report details a rare initial presentation of chronic myeloid leukemia (CML) with extramedullary blast crisis. The patient achieved long-term remission with targeted therapies and stem cell transplantation.
Area of Science:
- Hematology
- Oncology
- Genetics
Background:
- Myeloid sarcoma is a rare extramedullary manifestation of myeloid neoplasms.
- Chronic myeloid leukemia (CML) typically presents with leukocytosis and characteristic cytogenetic abnormalities.
- The e1a2 BCR-ABL1 fusion transcript is uncommon in CML, particularly with extramedullary blast crisis as the initial presentation.
Purpose of the Study:
- To report the first case of CML with the e1a2 BCR-ABL1 transcript presenting as extramedullary blast crisis.
- To discuss the clinical, pathological, and genetic features of this rare presentation.
- To review relevant literature on extramedullary CML and BCR-ABL1 fusion variants.
Main Methods:
- Case presentation of a 23-year-old woman with enlarged inguinal lymph nodes.
- Pathological examination of lymph nodes and bone marrow.
- Cytogenetic analysis and detection of the e1a2 BCR-ABL1 fusion transcript.
- Treatment with imatinib, chemotherapy, allogeneic stem cell transplantation, donor lymphocyte infusions, and dasatinib.
Main Results:
- Diagnosis of CML with 46,XX,t(9;22) and the e1a2 BCR-ABL1 transcript.
- Initial presentation as myeloid sarcoma in the inguinal lymph nodes.
- Complete hematologic and molecular remission achieved and maintained for over 48 months post-treatment.
Conclusions:
- Extramedullary blast crisis can be the initial presentation of CML, even with the rare e1a2 BCR-ABL1 transcript.
- Multimodality treatment, including stem cell transplantation, can lead to durable remission in such cases.
- This case highlights the importance of thorough investigation for myeloid neoplasms in patients with unexplained extramedullary masses.
Abstract:
A 23-year-old woman presented with enlarged right inguinal lymph nodes. The pathological examination of the nodes revealed infiltration by myeloid sarcoma. A bone marrow smear and biopsy revealed cytogenetic abnormalities, with 46,XX,t(9;22) and chronic myeloid leukemia (CML) was diagnosed. The e1a2 BCR-ABL1 fusion transcript was detected. The patient received imatinib-based combined chemotherapy, allogeneic hematopoietic stem cell transplantation, donor lymphocyte infusions and dasatinib treatment. The patient achieved complete response and has remained leukemia-free for >48 months. To the best of our knowledge, this is the first case report of CML with the e1a2 BCR-ABL1 transcript, with extramedullary blast crisis as the initial presentation. The aim of the present study was to discuss this special case with reference to the literature.
