Richter’s syndrome, also known as Richter’s transformation, involves a rapid progression of chronic lymphocytic leukemia into a more aggressive form of lymphoma.
Richter’s syndrome generally has links to negative survival rates. However, treatments may help a person achieve short-term remission.
This article reviews what Richter’s syndrome is, its symptoms, causes, and more.
Chronic lymphocytic leukemia (CLL) is a type of cancer that affects white blood cells. Richter’s syndrome occurs when CLL quickly transforms into an aggressive form of lymphoma, which refers to cancer of the lymphatic system.
The lymphatic system is a network of vessels, ducts, and nodes that passes through most bodily tissues, meaning cancer can quickly spread if it enters this system.
Richter’s syndrome most often transforms into diffuse large B-cell lymphoma (DLBCL). In rare cases, it may transform into Hodgkin lymphoma. Due to the transformation, experts often refer to this condition as Richter’s transformation.
Richter’s syndrome is relatively rare. One study from 2022 noted that data from a Surveillance, Epidemiology, and End Results database of over 74,000 people with CLL indicates a transformation rate of about 0.7%. However, the study authors also noted that studies had reported incident rates from about 1 to 23%.
Other organizations report an average occurrence of about 2 to 10%.
Health experts associate Richter’s syndrome with a generally negative outlook. According to a 2020 study of over 200 people, individuals with the best outlook had cases of untreated CLL before a diagnosis of Richter’s syndrome.
Richter’s syndrome can cause several potential symptoms.
The most common is a rapid and dramatic increase in the size of the lymph nodes. A person may notice swelling in areas such as the:
A person may also notice the following:
Additional symptoms or signs can include:
- palpitations
- low platelet (small blood cell) levels that cause bleeding or bruising
- fatigue
- shortness of breath
- dizziness
Healthcare professionals may discover an increase in serum lactate dehydrogenase or elevated serum calcium, which doctors call hypercalcemia, on a routine blood test. This could help with diagnosis.
The exact cause of Richter’s syndrome is unclear and may involve several factors.
Causes may include:
- clinical features and biological characteristics of CLL cells
- specific gene mutations
- certain inherited genetic characteristics, which may include LRP4, BCL-2, or CD38 genotypes
The risk factors for Richter’s syndrome are similar to the potential causes in many cases.
For example, certain features of tumor cells are a potential risk factor for Richter’s syndrome. The loss of a section of certain chromosomes in tumor cells or atypical proteins in tumor cells may increase a person’s risk.
Another possible risk factor is a person receiving previous treatment for CLL.
The symptoms of Richter’s syndrome can mimic those of other noncancerous illnesses and conditions. Therefore, a person should consider consulting a healthcare professional to determine the reason behind their symptoms.
A healthcare professional may suspect Richter’s syndrome if a person has or has previously been diagnosed with CLL.
They may start with a PET scan. This scan can help them determine which lymph nodes may make the best choice for a biopsy.
If a healthcare professional suspects someone may have Richter’s syndrome, they will likely ask a surgeon to perform a biopsy or CT scan of an enlarged lymph node. The biopsy can help them determine if it is a typical progression of CLL or the development of Richter’s syndrome.
Treatment will depend on what subtype of Richter’s syndrome a person develops. As the majority become DLBCL, the standard first-line treatment for this type of lymphoma often involves a combination of chemotherapy and immunotherapy.
People with Hodgkin lymphoma typically receive chemotherapy as their first line of treatment without immunotherapy.
The therapies can often achieve at least short-term remission. They also have links to several potential side effects.
If a person achieves remission, a doctor can perform a stem cell transplant. This is the only current therapy that has long-term survival associated with it.
Experts describe the outlook of Richter’s syndrome as negative. They report a median survival rate of 10 months. The most important aspect of outlook is the relationship between the transformed DLBCL and the underlying CLL.
A person who goes into remission and receives a stem cell transplant may have a longer life expectancy.
Researchers continually look into new treatments that may improve survival rates. A person may want to talk with a healthcare professional about joining a clinical study to help advance new, potentially helpful treatments.
Richter’s syndrome is a rare transformation of CLL into an aggressive form of cancer. The condition has associations with a negative outlook and short life expectancy.
The most common symptom is an unusual enlargement of the lymph nodes.
While the exact cause is unknown, experts suspect possible causes include differences in cancer cells, genetics, and other possible factors.
Treatment typically includes a combination of chemotherapy and immunotherapy to help achieve short-term remission. A doctor may also recommend stem cell transplant to help achieve a longer remission.