Juvenile myelomonocytic leukemia (JMML)
About
JMML is a rare infantile clonal hematopoietic stem cell disease characterized by abnormal activation of the RAS signaling pathway. The median age of onset was 2 years old. Core dilemmas: ① Insensitive to chemotherapy and cannot be cured by chemotherapy;② Allogeneic hematopoietic stem cell transplantation is the only radical treatment, but transplant-related complications and recurrence remain the main challenge;③ Some patients (especially those associated with NF1 or Noonan syndrome) may spontaneously respond, but most require transplantation.
Features & Symptoms
- Rare blood tumors in infants and young children
- RAS signaling path abnormal
- hepatosplenomegaly
- Insensitive to chemotherapy
Treatment Options
| Treatment | Description | Stage | Price Range |
|---|---|---|---|
| allogeneic hematopoietic stem cell transplantation | It is currently the only possible way to cure JMML. In transplantation of well-matched siblings or unrelated donors, demethylating drugs such as azacitidine are usually used to reduce tumor burden before transplantation. | 临床应用 | $300K - $800K/次 |
| MEK inhibitor (trametinib) | Inhibitors targeting MEK downstream of the RAS signaling pathway are used for pre-transplant bridging therapy or in patients who cannot be transplanted. | Phase II | $150K - $400K/年 |
| Azacitidine bridging therapy | The demethylating drug azacitidine can reduce tumor burden and create conditions for transplantation. | 临床应用 | $80K - $200K/疗程 |
Prognosis
The median survival time of non-transplanted patients is approximately 1 year
Additional Notes
Notes: Genetic testing recommendations: It is recommended to perform genetic testing such as PTPN11, NRAS, KRAS, NF1, CBL, etc. to clarify molecular typing; transplant timing: transplant indications should be assessed as soon as possible after diagnosis, and delaying transplantation will increase the risk of disease progression; Pre-transplant treatment: Azacitidine or 6-mercaptopurine can be used to control the disease and create conditions for transplantation; Donor selection: A sibling identical donor is the first choice, and unrelated donor or cord blood is also a feasible choice; NF1 patients: Patients with NF1-related JMML have a high risk of recurrence after transplantation and require close monitoring. Exclusive service commitment: The platform will allocate a dedicated medical team to each patient to assist in dismantling and properly deploying the following precautions throughout the process. When cross-state and cross-border diagnosis and treatment projects or drugs are involved, the platform will make overall arrangements for the entire docking; for disabled and semi-disabled patient groups, the platform will provide rush-free alternative solutions (including remote consultation, door-to-door sampling, direct drug delivery in the cold chain, etc.), to ensure that patients can get the same high-quality diagnosis and treatment resources without having to travel in person.; Research stage: Clinical application. Prognosis: The median survival time of non-transplanted patients is about 1 year.
Frequently Asked Questions
What is Juvenile myelomonocytic leukemia (JMML)?
JMML is a rare infantile clonal hematopoietic stem cell disease characterized by abnormal activation of the RAS signaling pathway. The median age of onset was 2 years old. Core dilemmas: ① Insensitive to chemotherapy and cannot be cured by chemotherapy;② Allogeneic hematopoietic stem cell transplantation is the only radical treatment, but transplant-related complications and recurrence remain the main challenge;③ Some patients (especially those associated with NF1 or Noonan syndrome) may spontaneously respond, but most require transplantation.
What are the symptoms of Juvenile myelomonocytic leukemia (JMML)?
Rare blood tumors in infants and young children,RAS signaling path abnormal,hepatosplenomegaly,Insensitive to chemotherapy
How is Juvenile myelomonocytic leukemia (JMML) treated?
allogeneic hematopoietic stem cell transplantation: It is currently the only possible way to cure JMML. In transplantation of well-matched siblings or unrelated donors, demethylating drugs such as azacitidine are usually used to reduce tumor burden before transplantation.; MEK inhibitor (trametinib): Inhibitors targeting MEK downstream of the RAS signaling pathway are used for pre-transplant bridging therapy or in patients who cannot be transplanted.; Azacitidine bridging therapy: The demethylating drug azacitidine can reduce tumor burden and create conditions for transplantation.
What is the prognosis for Juvenile myelomonocytic leukemia (JMML)?
The median survival time of non-transplanted patients is approximately 1 year