JMML stands for Juvenile myelomonocyte leukemia. Juvenile myelomonocytic leukemia is a malignant form of leukemia that occurs in infants and young children. In many cases, juvenile myelomonocyte leukemia is simply referred to by the abbreviation JMML. In the context of juvenile myelomonocyte leukemia, there is a malignant transformation of the hematopoietic stem cells, which are precursors of monocytes.
What is Juvenile Myelomonocytic Leukemia?
If the child suffers from infections unusually often, coughs constantly or has pale skin, a doctor should be asked about the observations. See AbbreviationFinder for abbreviations related to JMML.
In principle, juvenile myelomonocytic leukemia is regarded as a mixed form between myelodysplastic syndromes and myeloproliferative neoplasms. Juvenile myelomonocytic leukemia is a particularly severe form of chronic leukemia. The disease primarily affects children younger than four years old.
The average age at the onset of the disease is around two years. The WHO classifies juvenile myelomonocytic leukemia as one of the so-called myeloproliferative and myelodysplastic diseases. Juvenile myelomonocytic leukemia accounts for around one to two percent of all leukemia diagnoses.
In the US, for example, it is estimated that the diagnosis is made between 25 and 50 times a year. One child per million children is diagnosed with juvenile myelomonocytic leukemia every year.
A number of different factors are under discussion as potential causes for the development of juvenile myelomonocytic leukemia. According to the current state of medical research, the reasons for the disease have not yet been finally clarified. So far, hardly any environmental factors have been identified that support the development of juvenile myelomonocytic leukemia.
In addition, around ten percent of children with the disease are diagnosed before they reach the age of three months. For this reason, it is assumed that heredity is of particular importance in the development of the disease. In addition, more than 80 percent of affected patients show a so-called genetic anomaly, which is shown in laboratory tests in the so-called leukemic cells.
Approximately 15 to 20 percent of those affected are affected by a mutation in neurofibromatosis type 1. 25 percent of all patients suffer from a mutation in a so-called proto-oncogene, which is responsible for coding RAS proteins. After all, around 35 percent of affected patients show a mutation on PTPN11.
Symptoms, Ailments & Signs
In the context of juvenile myelomonocytic leukemia, numerous symptoms and complaints are possible in the affected patients, which differ depending on the individual case, severity and severity of the disease. Some particularly typical symptoms should immediately alert doctors and parents when they occur in infants and young children.
Numerous symptoms in different combinations can indicate the presence of juvenile myelomonocytic leukemia. These include, for example, fever, pale skin, cough, high susceptibility to infections, low weight gain, spontaneous bleeding, maculopapula or lymphadenopathy.
Moderate hepatomegaly, leukocytosis, anemia, severe splenomegaly and monocytosis or thrombocytopenia should also give rise to appropriate investigations. In some cases, children with juvenile myelomonocytic leukemia and neurofibromatosis 1 also have specific other symptoms.
These include, for example, café-au-lait spots on the skin, several neurofibromas, warts in the armpits, an optic glioma, several Lisch nodules and various malformations on the bones. A bent leg below the knee, scoliosis and low bone density are possible.
Diagnosis & course of disease
In the context of the diagnosis of juvenile myelomonocytic leukemia, there are numerous different methods of examination to choose from, which the treating specialist decides on after considering the individual case. Basically, three criteria are required to make a reliable diagnosis of juvenile myelomonocytic leukemia.
These include the absence of the Philadelphia chromosome or the BCR or ABL fusion gene and a proportion of blast cells in the bone marrow and blood of less than 20 percent. In addition, there are more than ten monocyte units per liter in the peripheral blood. The corresponding criteria are analyzed via laboratory tests of bone marrow and blood.
The prognosis of juvenile myelomonocytic leukemia depends on how well the affected person responds to the therapeutic measures. Some insights regarding the prognosis of juvenile myelomonocytic leukemia have become manifest over time.
For example, the chance of survival of small children without therapy is only five percent. Hematopoietic cell transplantation increases the chance of recovery. The survival rate increases to about 50 percent.
In this disease, especially small children and infants are affected by leukemia. The patients usually suffer from pale skin, a cough and often a high fever. The susceptibility of patients to infections is also significantly increased, so that infections or inflammation can occur more often. It is also not uncommon for bleeding to occur all over the body.
Those affected can also have spots, which has a negative impact on the patient’s aesthetics. It is also not uncommon for various malformations or malformations to occur in the patient’s bones. Reduced bone density also makes it easier for fractures and other injuries to occur. The quality of life of those affected is significantly restricted and reduced by this form of leukemia.
As a rule, this leukemia can also be treated with the help of stem cells. There are no other complications. Unfortunately, the disease cannot be treated long-term, so patients may need lifelong therapy. Whether this will lead to a reduction in life expectancy cannot be generally predicted.
When should you go to the doctor?
Infants and young children require immediate medical attention as soon as they show symptoms of illness. Since juvenile myelomonocyte leukemia shows individual and very diverse symptoms, a doctor’s visit is advisable in the event of a wide variety of abnormalities. Without timely medical care, the child may die due to the aggressive growth of the cancer. If the child suffers from infections unusually often, coughs constantly or has pale skin, a doctor should be asked about the observations.
If spontaneous bleeding occurs repeatedly, apathy during play activities or apathy, a doctor’s visit is necessary. A doctor should be consulted in the event of abnormalities in the complexion, the formation of warts or swelling of the upper body. A bulging of the abdomen or in the area of the liver are considered alarming and must be checked. Peculiarities of the skeletal system, malformations of individual bones or deformities are indications of irregularities that need to be examined more closely.
If there are behavioral problems, changes in personality, or if the child repeatedly expresses feelings of being unwell, a doctor’s visit is necessary. In the event of a decrease in performance, fatigue, an increased need for sleep or an unusual change in weight, the symptoms must be examined and clarified by a doctor. Impairments of vision or hearing are considered further warning signs for existing health discrepancies.
Treatment & Therapy
Various measures are available for the therapy of juvenile myelomonocytic leukemia. However, to date there is no treatment protocol with international recognition. There are currently two primary therapies used in juvenile myelomonocytic leukemia. The affected patients receive chemotherapy or radiotherapy on the one hand and stem cell transplantation on the other.
In the case of chemotherapy, it appears that there is no long-term cure for the disease. However, reliable research results are not yet available. Even radiotherapy does not appear to lead to a full recovery. Stem cell transplantation is therefore the only possibility for healing. Basically, the chances of healing are higher the younger the patient is.
Outlook & Forecast
The prognosis of juvenile myelomonocyte leukemia is unfavorable in many patients. Complications or side effects can also occur with medical treatment. Without medical care, the course of the disease is fatal in well over 90 percent of those affected. According to statistical evaluations, the patients’ chances of survival are less than 5 percent.
The prospect of a cure improves when a doctor is consulted early, a diagnosis is made and comprehensive medical therapy is initiated. The earlier the treatment is started, the better the prognosis. Since the disease occurs in children and infants, the relatives are obliged to have a medical examination initiated at the first irregularities and abnormalities.
If hematopoietic cell transplantation is chosen as the form of therapy, the chances of survival increase to around 50 percent. This is currently the best treatment option for the disease. Nevertheless, the leukemia is fatal in half of the patients. In addition, it must be checked individually whether this treatment can be carried out. Transplantation cannot be used in all affected individuals.
Patients who have achieved recovery can later develop juvenile myelomonocyte leukemia again. The prognosis is still unfavorable in the event of a renewed infestation.
According to the current state of medical research, no effective measures and methods are known to prevent the development of juvenile myelomonocytic leukemia in infants and young children. This is primarily due to the fact that the disease appears to have predominantly genetic causes.
Follow-up care for juvenile myelomonocyte leukemia directly follows treatment. According to the current state of research, there are currently no preventive measures to protect infants and young children from the disease. However, the parents can positively influence the further course of the disease and thus the chances of recovery.
Among other things, they should have their children checked regularly so that the doctor can detect the disease as early as possible. If the infants cough excessively, are prone to infections, and have pale skin, parents should be extra cautious. The quality of life of the little patients and the entire family is drastically reduced because the treatment is a physical and mental strain.
That is why the help of family members is so important. If hospitalization is required, parents can stay with their offspring to calm their fears. If the affected parents develop depression as a result of the heavy stress, they often need their own therapy.
As part of a psychotherapeutic treatment, they feel valued and find their way back to their original strength. Depending on the course of the disease in the children, they need a lot of loving support. The emotional care of the family makes the infants and young children feel cared for, which can have a positive effect on the healing process.
You can do that yourself
Juvenile myelomonocyte leukemia affects infants and young children, so the responsibility for self-help measures does not lie with the patients themselves. Instead, the parents or guardians support the course of the disease and their chances of recovery with their behavior. Parents, for example, help to ensure that the disease is recognized in good time. An early diagnosis has a positive effect on the prospects of recovery, so that a considerable influence is possible here.
Parents pay attention to symptoms such as coughing and paleness, fever and an increased susceptibility to infections in their newborn children and those in infancy. These symptoms indicate the presence of the disease and prompt the parents to have the child examined by a doctor immediately.
During the treatment of the disease, the patient’s quality of life usually decreases considerably, since the therapeutic measures are physically and mentally stressful. The children receive emotional support from their parents and relatives. If possible, the parents stay with the children in the hospital to make it easier for them to deal with their fears, especially in the case of longer inpatient stays and medical interventions. If the illness leads to depression or other psychological problems in the parents of the patients, psychotherapeutic treatment should be initiated.