"PAX5 Deficiency" – What Is It?
PAX5 deficiency, also known as a predisposition to ALL 3, is a disease caused by mutations, i.e., genetic changes in the PAX5 gene. Those affected have an increased risk of developing B-cell acute lymphoblastic leukemia (B-ALL). Other hematopoietic system diseases or other organs’ tumors have not yet been described.
How Is "PAX5 Deficiency" Diagnosed?
Suspected Diagnosis
In cases of familial acute lymphoblastic B-cell leukemia (B-ALL), a PAX5 mutation should be considered and genetically tested for. If genetic diagnostics have already been carried out due to an existing ALL and a so-called 9p deletion was found, a PAX5 mutation is also suspected. Further genetic diagnostics should be carried out.
Genetic Diagnostics
The diagnosis of “PAX5 deficiency” is confirmed by the detection of a mutation, i.e., a genetic change in the PAX5 gene.
What Is the Risk of Cancer?
The only clinical manifestation of a PAX5 mutation described to date is acute lymphoblastic B-cell leukemia or pre-B-ALL. All patients were diagnosed with leukemia in childhood, which suggests that the risk of developing B-ALL decreases significantly after the first decade of life.
PAX5 deficiency shows incomplete penetrance, i.e., PAX5 mutation carriers can be “healthy,” i.e., not suffering from B-ALL. It is unknown how high the probability is that a PAX5 mutation carrier will develop leukemia.
Other diseases of the hematopoietic system or tumors of different organs have not yet been observed in connection with PAX5 mutations.
What Is Known About the Development of "PAX5 Deficiency" ?
PAX5 deficiency is caused by a mutation, i.e., a genetic change in the PAX5 gene. This gene codes for the so-called transcription factor PAX5, which plays a vital role in developing B lymphocytes, a specific group of white blood cells. If the PAX5 gene is altered, the transcription factor can no longer function correctly, resulting in the development of acute leukemia of the B-cell lineage.
Is There Any Form of Treatment Available?
The treatment of B-ALL in patients with a PAX5 mutation should be discussed with the relevant study center.
If a stem cell transplant is planned with a sibling as the donor, a PAX5 mutation analysis should be carried out beforehand to rule out the possibility that the sibling is a previously unknown carrier of the same genetic syndrome.
Diagnosis of " PAX5 Deficiency" What's Next?
If you have been diagnosed with this cancer predisposition syndrome, it is important to see a specialist. The following section explains whether cancer screening tests or other measures are needed and how they should be carried out. We also give you some valuable tips on what you can do yourself. If you have any questions, please do not hesitate to contact us or your doctor.
Diagnose PAX5 Deficiency. Wie geht es weiter?
If you have been diagnosed with this cancer predisposition syndrome, it is important to see a specialist. The following section explains whether cancer screening tests or other measures are needed and how they should be carried out. We also give you some valuable tips on what you can do yourself. If you have any questions, please do not hesitate to contact us or your doctor.
Medical Measures for Early Detection
PAX5 deficiency is a sporadic disease with insufficient data to make standardized early detection recommendations. However, we recommend the following:
- Clinical examinations
- Annual complete blood count
- Bone marrow puncture only in case of unstable blood values/clinical suspicion of leukemia
PAX5 Deficiency- What You Can Do Yourself
You Should Pay Attention to This
You should consult a doctor when you notice increased or difficult-to-stop bleeding (e.g., prolonged or frequent nosebleeds), increased bruising, fatigue, or a feeling of illness, fever, night sweats, paleness, or frequent infections. You should also urgently consult a doctor if you have swelling of the lymph nodes or bone pain. If other new abnormalities or complaints occur, these should also be clarified as quickly as possible.
Further Information
Unfortunately, we are unaware of any support groups for patients with PAX5 deficiency. As soon as we have new information, we will add it here. However, patients can also register for the CPS registry at any time or have this done by their doctors in charge.
Any further questions?
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