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Transduction-Transplantation Mouse Model of Myeloproliferative Neoplasm
Published on: December 22, 2016
MLL-PTD in a 13-year-old patient with blast phase myeloproliferative neoplasm: A case report
Zhipeng He1, Bixin Wang, Lili Chen
1Department of Hematology, Union Hospital, Fujian Medical University, Fujian Institute of Hematology, Fujian Provincial Key Laboratory of Hematology, Fuzhou, China.
Rationale:
The risk of leukemic transformation in myeloproliferative neoplasm (MPN) has been increasing with time. Partial Tandem Duplications of the MLL gene (MLL-PTD) has been reported in de novo acute myeloid leukemia (AML), but not in MPN blast phase. The post-MPN AML developed adverse clinical outcomes, which showed no noticeable improvement over the past 15 years. Therefore, the mechanisms and therapeutic approaches of post-MPN AML need to be deeply studied.
Patient Concerns:
In this study, we present a JAK2V617F positive MPN patient who experienced fatigue and splenomegaly, transforming into JAK2V617F negative AML.
Diagnoses:
A diagnosis of acute monocytic leukemia was made in MPN blast phase.
Interventions:
The patient received chemotherapy and allogeneic hematopoietic stem cell transplantation (Allo-SCT).
Outcomes:
The patient achieved complete remission twice, but relapsed twice. Relapse-free survival was only 3 months. She died about 24 months after her diagnosis.
Lessons:
MLL-PTD occurs in the progression of JAK2V617F positive MPN into JAK2V617F negative AML, which may be a novel mechanism of MPN blast phase and helpful for post-MPN AML diagnosis. Allo-SCT may be a good choice for post-MPN AML with MLL-PTD. More therapeutic strategies need to be explored for a better prognosis in these patients.
Insights
Partial tandem duplications of the MLL gene (MLL-PTD) may drive leukemic transformation in myeloproliferative neoplasm (MPN) to acute myeloid leukemia (AML). Allogeneic stem cell transplant is a potential treatment for MPN-AML with MLL-PTD.
Area of Science:
- Hematology
- Oncology
- Molecular Biology
Background:
- Myeloproliferative neoplasms (MPN) carry an increasing risk of transformation to acute myeloid leukemia (AML).
- Post-MPN AML exhibits poor clinical outcomes, necessitating research into underlying mechanisms and treatments.
- Partial tandem duplications of the MLL gene (MLL-PTD) are known in de novo AML but not previously reported in MPN blast phase.
Observation:
- This study details a patient with JAK2V617F positive MPN who developed JAK2V617F negative acute monocytic leukemia.
- The patient presented with fatigue and splenomegaly, indicative of MPN progression.
Findings:
- MLL-PTD was identified during the progression of JAK2V617F positive MPN to JAK2V617F negative AML.
- The patient underwent chemotherapy and allogeneic hematopoietic stem cell transplantation (Allo-SCT).
- Despite achieving complete remission twice, the patient experienced two relapses, with a relapse-free survival of only 3 months, and died approximately 24 months post-diagnosis.
Implications:
- MLL-PTD may represent a novel mechanism in MPN blast phase and aid in diagnosing post-MPN AML.
- Allo-SCT could be a viable therapeutic option for post-MPN AML harboring MLL-PTD.
- Further research into novel therapeutic strategies is crucial for improving outcomes in this patient population.
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