Related Experiment Video
Updated: Aug 8, 2026
Simplified Intrafemoral Injections Using Live Mice Allow for Continuous Bone Marrow Analysis
Published on: November 10, 2023
Transient cytogenetic relapse in a Ph1-positive chronic myelogenous leukemia patient previously treated with
G Rege-Cambrin1, A Guerrasio, P Scaravaglio
1Dipartimento di Scienze Biomediche e Oncologia Umana, Università degli Studi di Torino, Italy.
Insights
Alpha-interferon (IFN alpha) therapy can induce remission in chronic myelogenous leukemia (CML). A CML patient achieved complete remission, but minimal residual disease persisted, highlighting the need for further treatment strategies.
Area of Science:
- Hematology
- Oncology
- Molecular Biology
Background:
- Chronic myelogenous leukemia (CML) is a myeloproliferative neoplasm characterized by the Philadelphia chromosome (Ph1).
- Alpha-interferon (IFN alpha) is a therapeutic agent used to suppress Ph1-positive hemopoiesis in CML patients.
- Complete remission in CML can be assessed through cytogenetic and molecular analyses.
Observation:
- A 30-year-old CML patient with favorable prognostic indicators received IFN alpha therapy.
- Initial treatment resulted in complete hematological and cytogenetic remission after one year.
- Minimal residual disease (MRD) was detected by polymerase chain reaction (PCR) despite remission.
Findings:
- IFN alpha therapy was discontinued, leading to a stable hematological status for 18 months.
- A new clone with t(9;22) and trisomy 8 emerged, comprising 30% of bone marrow metaphases.
- This clone spontaneously regressed, but MRD persisted.
- Subsequent high-dose chemotherapy eradicated the Ph1-positive clone, confirmed by PCR.
- Molecular and cytogenetic remission were maintained for one year post-chemotherapy.
Implications:
- IFN alpha can induce remission in CML but may not eliminate MRD.
- The emergence and spontaneous regression of a Ph1-positive clone highlight complex disease dynamics.
- Chemotherapy remains crucial for eradicating MRD and achieving sustained remission in CML.
- Monitoring MRD via PCR is essential for assessing treatment efficacy and guiding therapeutic decisions.
Abstract:
Therapy with alpha-interferon (IFN alpha) can suppress the Ph1-positive hemopoiesis in a percentage of patients with chronic myelogenous leukemia (CML). We used IFN alpha to treat a 30-year-old CML patient, characterized by favourable prognostic signs (such as low leukocytosis, absence of splenomegaly and no increase in bone marrow blasts) at diagnosis, and obtained a complete remission, as evaluated by Southern blot and cytogenetic analysis, after one year of treatment. However, the polymerase chain reaction (PCR) revealed the persistence of a minimal residual disease. The IFN alpha therapy was stopped and the hematological status remained stable until eighteen months later, when a cytogenetic analysis revealed the appearance of a clone characterized by t(9;22) and trisomy 8, accounting for 30% of bone marrow metaphases. This cell population spontaneously regressed in the following months, before any cytotoxic treatment. However, as leukemic cells, detected by PCR, were still present, the patient received a high dose chemotherapy, which induced the complete eradication of the Ph1-positive clone, as demonstrated by the absence of bcr-abl transcript at the PCR reaction. Molecular and cytogenetic remission persist one year later, without any further therapy.
