"Robertsonian Translocation 15;21, Ring Chromosome 21" – What Is It?
Robertsonian translocation 15;21 and ring chromosome 21 are rare genetic changes leading to a significantly increased risk of developing acute lymphoblastic leukemia (ALL). This ALL is a special subtype known as iAMP21-ALL. An association with other forms of ALL or other tumor diseases is not yet known.
How Is "Robertsonian Translocation 15;21, Ring Chromosome 21" Diagnosed?
Genetic Diagnostics
The diagnosis of Robertsonian translocation 15;21 is confirmed by detecting a fusion of the two chromosomes 15 and 21 in chromosome analysis or fluorescence in situ hybridization(FISH). A ring chromosome 21 can also be detected using these methods.
What Is the Risk of Cancer?
The risk of developing iAMP21-ALL is about 2700 times higher in patients with Robertsonian translocation 15;21 compared to the general population. A ring chromosome 21 also increases the risk of developing iAMP21-ALL. iAMP21-ALL usually occurs later (average age 9 years) than other subtypes of childhood ALL (average age 2-5 years). It is also characterized by low white blood cell counts.
An association with other forms of ALL or other tumor diseases is not yet known.
What Is Known About the Development of "Robertsonian Translocation 15;21, Ring Chromosome 21"?
Robertsonian translocation 15;21 and ring chromosome 21 are structural changes in our genome. Robertsonian translocation 15;21 is characterized by a connection of the ordinarily separate chromosomes 15 and 21 to form a chromosome. In-ring chromosome 21, the ends of a chromosome (in this case, chromosome 21) fuse together to develop a ring-shaped chromosome. These structural changes can lead to the development of leukemia.
Is There Any Form of Treatment Available?
During treatment, a discussion with the ALL study management is always advisable. This is usually done by your treatment team.
Diagnosis of " Robertsonian Translocation 15;21, Ring Chromosome 21" 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.
Diagnosis of " Robertsonian Translocation 15;21, Ring Chromosome 21" 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.
Medical Measures for Early Detection
As Robertsonian translocation 15;21 and ring chromosome 21 are very rare genetic alterations, there is currently a lack of sufficient data to make standardized early detection recommendations. As with other leukemia predisposition syndromes, the following tests should be carried out regularly:
- Clinical examinations
- Annual complete blood count
- Bone marrow puncture only in case of unstable blood values/clinical suspicion of leukemia
Robertsonian Translocation 15;21, Ring Chromosome 21 – What You Can Do Yourself
You Should Pay Attention to This
You should consult a doctor when you notice frequent infections, increased or difficult-to-stop bleeding (e.g., prolonged or frequent nosebleeds), increased bruising, fatigue or a feeling of illness, fever, enlarged lymph nodes, or bone pain. If other new symptoms or complaints occur, these should also be clarified as quickly as possible.
Further Information
Unfortunately, we are not yet aware of any support groups for patients with Robertsonian translocation 15;21 and ring chromosome 21. 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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