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Burkitt lymphoma is diagnosed through a series of tests that examine the blood and bone marrow. The process usually begins with a physical examination where the doctor checks for physical signs of Burkitt lymphoma such as a rapidly growing mass often found on the abdomen or head and neck area. Patients can also present with abdominal distention, nausea, vomiting and gastrointestinal bleeding. If Burkitt lymphoma is suspected, the following tests may be conducted:

Blood Tests:

  • Complete blood count (CBC): This test measures the amount of different types of cells in the blood. In Burkitt lymphoma, there may be an increased number of white blood cells and a decreased number of red blood cells or platelets.
  • Lactate dehydrogenase (LDH): LDH is an enzyme found in the blood that can be elevated in conditions where there is rapid cell turnover, such as Burkitt lymphoma.
  • Immunoglobulin: This test measures the levels of different types of immunoglobulins in the blood. In Burkitt lymphoma, there may be an increased level of a specific type of immunoglobulin.

Bone Marrow Tests:

  • Bone marrow aspiration and biopsy: These tests involve taking a small sample of bone marrow, usually from the hip bone, and examining it under a microscope. In Burkitt lymphoma, the bone marrow may contain lymphoma cells.
  • Cytogenetic analysis: This test looks at the chromosomes of cells in the bone marrow. In Burkitt lymphoma, there is often a specific chromosomal change known as a translocation. Translocations of the c-MYC gene on chromosome 8 are the hallmark of Burkitt lymphoma, occurring in approximately 95% of cases. The t(8;14)(q24;q32) is the most common translocation in Burkitt lymphoma, occurring in 70% to 80% of cases. Other translocations include t(2;8)(p12; q24) and t(8;22)(q24; q11). In addition to the characteristic translocation of c-MYC, many gene mutations have been identified, including truncating mutations of ARID1A, amplification of MCL1, truncating alterations of PTEN, NOTCH, and ATM; amplifications of RAF1, MDM2, KRAS, IKBKE, deletion of CDKN2A, and CCND3 activating mutations. 

Imaging Tests:

  • Computed Tomography (CT) Scan: This test uses x-rays to create detailed pictures of the inside of the body. It can help to determine the size and location of lymphoma masses.
  • Magnetic Resonance Imaging (MRI): This test uses magnetic fields and radio waves to create detailed pictures of the inside of the body. It can be particularly useful for looking at the brain and spinal cord.
  • Positron Emission Tomography (PET) Scan: This test uses a small amount of radioactive glucose to find cancer cells in the body. It can help to determine the extent of the lymphoma and whether it has responded to treatment.

A Summary of Diagnosing Burkitt's Lymphoma

It's important to note that the diagnosis and classification of Burkitt lymphoma is complex and requires a comprehensive evaluation by a team of specialists. A complete diagnosis requires a physical examination, looking at a bone marrow sample under the microscope, and often genetic testing. The specific markers and genetic changes found in the bone marrow sample can also help determine a person's prognosis and guide treatment decisions. If you don't currently have an Burkitt lymphoma specialist on your team, it is important that you consult with one. Use HealthTree's Burkitt Lymphoma Specialist Directory to locate a specialist near you. 

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