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B-cell leukemia lymphoma 2 gene rearrangement analysis

What is this test?

This test identifies the rearrangement of a gene called bcl-2 in the body. It is used to help diagnose and manage lymphoid cancers[1][2][3] such as follicular lymphoma[4][3][5] and diffuse large B-cell lymphoma[1][6]. A sample from the bone marrow, cerebrospinal fluid[4], lymph node tissue, extranodal mass tissue, blood or another body fluid or tissue may be collected for this test[7].

What are other names for this test?

  • B-cell leukaemia lymphoma 2 (BCL-2) gene rearrangement analysis
  • B-cell leukaemia lymphoma 2 gene rearrangement analysis
  • B-cell leukemia lymphoma 2 (BCL-2) gene rearrangement analysis
  • BCL-2 gene analysis

Why do I need this test?

Laboratory tests may be done for many reasons. Tests are performed for routine health screenings or if a disease or toxicity is suspected. Lab tests may be used to determine if a medical condition is improving or worsening. Lab tests may also be used to measure the success or failure of a medication or treatment plan. Lab tests may be ordered for professional or legal reasons. You may need this test if you have:

  • Diffuse large B-cell lymphoma
  • Follicular lymphoma

When and how often should I have this test?

When and how often laboratory tests are done may depend on many factors. The timing of laboratory tests may rely on the results or completion of other tests, procedures, or treatments. Lab tests may be performed immediately in an emergency, or tests may be delayed as a condition is treated or monitored. A test may be suggested or become necessary when certain signs or symptoms appear.

Due to changes in the way your body naturally functions through the course of a day, lab tests may need to be performed at a certain time of day. If you have prepared for a test by changing your food or fluid intake, lab tests may be timed in accordance with those changes. Timing of tests may be based on increased and decreased levels of medications, drugs or other substances in the body.

The age or gender of the person being tested may affect when and how often a lab test is required. Chronic or progressive conditions may need ongoing monitoring through the use of lab tests. Conditions that worsen and improve may also need frequent monitoring. Certain tests may be repeated to obtain a series of results, or tests may need to be repeated to confirm or disprove results. Timing and frequency of lab tests may vary if they are performed for professional or legal reasons.

How should I get ready for the test?

Bone marrow:

A bone marrow biopsy is a procedure that requires written consent. Review the consent form with the healthcare worker and ask any questions that you have before signing the consent form.

Tell the healthcare worker if you have a medical condition or are using a medication or supplement that causes excessive bleeding. You should also report if you have a history of allergic or other reactions to local anesthetics. Inform the healthcare worker of any past or present bone diseases. You may need to have other tests done before a bone marrow biopsy.

To prepare for a bone marrow biopsy, you may be offered a mild sedative prior to the procedure to help you relax. To decrease pain, you will also receive a topical or local anesthetic injection at the biopsy site.

Cerebrospinal fluid:

A lumbar puncture is a procedure that requires your written consent. Review the consent form with the healthcare worker and ask any questions that you have before signing the consent form. You may receive certain medications and need imaging tests done prior to the procedure.

Tell the person doing the lumbar puncture if you have a medical condition or are using a medication or supplement that causes excessive bleeding. Contact the healthcare worker if you have a history of chronic back pain, structural defects in your spine, or a past spinal surgery. Tell the healthcare worker if you have an infection on your back or if you have any psychiatric or neurological (nerve) conditions. You should also report if you have a history of allergic or other reactions to local anesthetics.

Fluid/Tissue:

Written consent may be required for a fine needle aspiration biopsy. Review the consent form with the healthcare worker and ask any questions you have before signing the form. Tell the healthcare worker if you have a medical condition or are using a medication or supplement that causes excessive bleeding. You should also report if you have a history of allergic or other reactions to local anesthetics.

Blood:

Before having blood collected, tell the person drawing your blood if you are allergic to latex. Tell the healthcare worker if you have a medical condition or are using a medication or supplement that causes excessive bleeding. Also tell the healthcare worker if you have felt nauseated, lightheaded, or have fainted while having blood drawn in the past.

Other body fluid and tissue samples:

A different sample other than the samples listed above may be used for this test. Ask your healthcare worker for information about how to prepare for this test. If you have questions or concerns about the preparation for this test, talk to the healthcare worker.

How is the test done?

A sample from the bone marrow, cerebrospinal fluid, lymph node tissue, extranodal mass tissue, blood or another body fluid or tissue may be collected for this test.

Bone marrow:

Bone marrow is the tissue inside certain bones where new blood cells are made. A bone marrow sample is collected by biopsy. Local anesthesia may be used for a bone marrow biopsy. Your skin will be shaved and cleaned, and a sterile area will be prepared for the procedure. A needle will be inserted through the skin and into the bone using a twisting motion. A sample of marrow will be removed with a syringe, and another needle will be used to remove a piece of tissue. When the samples are collected, the needle will be removed.

Cerebrospinal fluid:

Cerebrospinal fluid is the fluid that surrounds the brain and spinal cord tissues. The procedure that collects a sample of cerebrospinal fluid is called a lumbar puncture. For this procedure, you may need to lie on your side facing away from the person performing the procedure. You may be asked to roll up into a ball with your knees brought close to your chest. This position allows your spine to spread apart slightly and helps direct needle placement. This procedure may also be done while you are in an upright sitting position, with your knees drawn up toward your chest.

An area in the lower back will be chosen for the needle insertion site. This is about at the level of the top of your hip bone. Your skin will be cleaned with antiseptic and the area will be draped with sterile cloth. Local anesthetic will be injected with a small needle to numb the area. Anesthetic cream may also be applied. After the anesthetic has taken effect, the lumbar puncture needle is inserted between the vertebrae and into the spinal column. Cerebrospinal fluid is drawn out for testing and the needle is removed. You may need to change positions during the procedure if the healthcare worker is having difficulty collecting a sample of fluid. This procedure may be done more than one time if collecting cerebrospinal fluid is difficult.

Fluid/Tissue:

A fine needle aspiration biopsy is used to collect fluid, or take small tissue samples from a cyst, lump or mass. First, the area over the biopsy site will be cleaned. A local anesthetic may be used to numb the area where the needle will be inserted.

A very tiny needle will be inserted into the area selected for testing. If fluid is present, it will be withdrawn from the area using a syringe. If a tissue sample is required for testing, the needle may be moved back and forth to get enough tissue. When sample collection is complete, the needle will be removed.

Blood:

When a blood sample from a vein is needed, a vein in your arm is usually selected. A tourniquet (large rubber strap) may be secured above the vein. The skin over the vein will be cleaned, and a needle will be inserted. You will be asked to hold very still while your blood is collected. Blood will be collected into one or more tubes, and the tourniquet will be removed. When enough blood has been collected, the healthcare worker will take the needle out.

Other body fluid and tissue samples:

A different sample other than the samples listed above may be used for this test. Methods used to collect other body fluids or tissue samples may vary. Ask the healthcare worker to explain how this sample may be collected. If you have questions or concerns about this test, talk to the healthcare worker.

How will the test feel?

The amount of discomfort you feel will depend on many factors, including your sensitivity to pain. Communicate how you are feeling with the person doing the test. Inform the person doing the test if you feel that you cannot continue with the test.

Bone marrow:

Before a bone marrow biopsy, you may receive medication to help you relax. When the numbing medicine is injected, you may feel mild discomfort or stinging. The local anesthetic is used to minimize pain, but as the procedure needle is inserted, you may feel some pressure and discomfort. You may feel brief pain as the bone marrow is removed. You may feel discomfort at the procedure site for several days.

Cerebrospinal fluid:

Before a lumbar puncture, a local anesthetic is given to the procedure site to numb the area. You may feel mild discomfort or stinging when the numbing medicine is injected. You may feel a pressure, a popping sensation, and discomfort when the procedure needle is inserted. Tell the person doing the test if you feel pain or numbness down your leg during the procedure. You may have back discomfort for several days after the procedure.

Fluid/Tissue:

A local anesthetic is used to minimize pain during a fine needle aspiration biopsy. Even when local anesthetic is used, you may feel discomfort or pressure as the needle is inserted and moved during the procedure. After the biopsy, the procedure site may be sore for several days.

Blood:

During a blood draw, you may feel mild discomfort at the location where the blood sample is being collected.

Other body fluid and tissue samples:

A different sample other than the samples listed above may be used for this test. This test may feel different depending on many factors, including the sample needed and how it is collected. Ask the healthcare worker what to expect during this test.

What should I do after the test?

Bone marrow:

After the sample of bone marrow is collected, pressure may be applied and a bandage will be placed over the biopsy site. You will be given instructions for when to remove the bandage, and the signs and symptoms of infection to watch for. Contact your healthcare worker if you experience a fever or increased pain, and if you see increasing redness, swelling, or pus at the procedure site.

Cerebrospinal fluid:

After the lumbar puncture is complete, a bandage will be placed over the site and pressure held until the bleeding or drainage has stopped. You will need to lie flat for at least 1 to 2 hours after the lumbar puncture. Healthcare workers will monitor for drainage from the puncture site for a period of time after the test. You may be able carefully turn from your back to your side. You will be offered fluids to drink.

Fluid/tissue:

After a fine needle biopsy, pressure may be held to the site briefly and a small bandage will be placed over the biopsy site. Ask for instructions for when to remove the dressing and how to monitor for signs and symptoms of infection. Contact your healthcare worker if you have a fever or increased pain, and if you see increasing redness, swelling, or pus at the procedure site.

Blood:

After a blood sample is collected from your vein, a bandage, cotton ball, or gauze may be placed on the area where the needle was inserted. You may be asked to apply pressure to the area. Avoid strenuous exercise immediately after your blood draw. Contact your healthcare worker if you feel pain or see redness, swelling, or discharge from the puncture site.

Other body fluid and tissue samples:

A different sample other than the samples listed above may be used for this test. Instructions for what to do after a collection of other body fluid or tissue samples may vary. Ask the healthcare worker to instruct you on what to expect after this test is completed. If you have questions or concerns about what to expect after the test is completed, talk to the healthcare worker.

What are the risks?

Bone marrow: Bone marrow is collected by a procedure called aspiration and biopsy. The sample may be taken from multiple sites, but the most common site for biopsy is the pelvis. Risks of a bone marrow biopsy vary depending on the biopsy method used and the site selected for the biopsy. General risks of this procedure are infection and bleeding from the biopsy site. If you have a medical condition, or are using a medication or supplement that causes excessive bleeding, you are at a higher risk of bleeding from the procedure site.

Bone marrow biopsies performed on the sternum (breastbone) have the most risk. This area is only tested on adults, and only certain types of biopsies are done on the sternum. Due to the location and thickness of the sternum, it is rare but possible to damage the heart, major blood vessels, and the mediastinum (space of the chest that holds essential organs). A puncture to these areas could lead to severe bleeding, infection, or trapped air in the chest cavity. The person doing this procedure may need to perform it more than once. Talk to your healthcare worker if you have any concerns about the risks of having a bone marrow aspiration and biopsy.

Cerebrospinal fluid: Cerebrospinal fluid is collected by a procedure called a lumbar puncture. The most common risk of a lumbar puncture is spinal fluid leakage from the puncture site. This procedure may cause a mild to severe headache, which may last for several days. Although rare, other risks include infection, nerve injury, bleeding in the spinal canal, and damage to the discs in between your spine. If you have a medical condition, or are using a medication or supplement that causes excessive bleeding, you are at a higher risk of bleeding from the puncture site. If you have a condition where you have increased pressure within your skull, such as a traumatic head injury or a large brain tumor, this procedure carries a risk of brain herniation (where the skull contents are pressed down on to the spinal cord causing brain damage). The person doing this test may need to perform it more than once. Talk to your healthcare worker if you have any concerns about the risks of this procedure.

Fluid/Tissue: A fine needle aspiration biopsy of tissue or fluid may be taken from several different body areas. However, this procedure is usually done on cysts, lumps, or masses. Risks of this procedure vary depending on the site where the sample is taken for this test, and include bleeding, bruising, and infection at the puncture site. If you have a medical condition, or are using a medication or supplement that causes excessive bleeding, you are at a higher risk of bleeding during or after this procedure. The person doing this procedure may need to perform it more than once. Talk to your healthcare worker if you have any concerns about the risks of a fine needle aspiration biopsy.

Blood: During a blood draw, a hematoma (blood-filled bump under the skin) or slight bleeding from the puncture site may occur. After a blood draw, a bruise or infection may occur at the puncture site. The person doing this test may need to perform it more than once. Talk to your healthcare worker if you have any concerns about the risks of this test.

Other body fluid or tissue samples: A different sample other than the samples listed above may be used for this test. Ask your healthcare worker to explain the risks of this test to you. If you have questions or concerns about this test, talk to the healthcare worker.

What are normal results for this test?

Experts do not agree on what normal results are for this test.

What follow up should I do after this test?

Ask your healthcare worker how you will be informed of the test results. You may be asked to call for results, schedule an appointment to discuss results, or notified of results by mail. Follow up care varies depending on many factors related to your test. Sometimes there is no follow up after you have been notified of test results. At other times follow up may be suggested or necessary. Some examples of follow up care include changes to medication or treatment plans, referral to a specialist, more or less frequent monitoring, and additional tests or procedures. Talk with your healthcare worker about any concerns or questions you have regarding follow up care or instructions.

Cerebrospinal fluid:

You may experience headaches for hours to days, or even weeks after a lumbar puncture. The headaches are usually worse when sitting or standing upright and are relieved by lying down. Headaches are often associated with nausea, a stiff neck, tinnitus (ringing in the ears), photophobia (abnormal sensitivity to or intolerance of light), vertigo (dizziness), and blurred vision. Contact your healthcare worker if your symptoms worsen.

Other body fluid and tissue samples:

A different sample other than the samples listed above may be collected for this test. Ask the healthcare worker for follow up care instructions after this test.

Where can I get more information?

Related Companies

  • The Leukemia & Lymphoma Society Inc. - http://www.leukemia-lymphoma.org

References:

[1] Iqbal J, Sanger WG, Horsman DE, et al: BCL2 translocation defines a unique tumor subset within the germinal center B-cell-like diffuse large B-cell lymphoma. Am J Pathol 2004; 165(1):159-166.

[2] Landetto M, Drandi D, Compagno M, et al: PCR-detectable nonneoplastic Bcl-2/IgH rearrangements are common in normal subjects and cancer patients at diagnosis but rare in subjects treated with chemotherapy. J Clin Oncol 2003; 21(7):1398-1403.

[3] Albinger-Hegyi A, Hochreutener B, Abdou MT, et al: High frequency of t(14;18)-translocation breakpoints outside of major breakpoint and minor cluster regions in follicular lymphomas: improved polymerase chain reaction protocols for their detection. Am J Pathol 2002; 160(3):823-832.

[4] Sanchez-Vega B, Vega F, Medeiros LJ, et al: Quantification of bcl-2/JH fusion sequences and a control gene by multiplex real-time PCR coupled with automated amplicon sizing by capillary electrophoresis. J Mol Diagn 2002; 4(4):223-229.

[5] Crisan D, Anstett MJ, Matta N, et al: Detection of bcl-2 oncogene rearrangement in follicular lymphoma: nucleic acid hybridization and polymerase chain reaction compared. Clin Chem 1993; 39(9):1980-1982.

[6] Barrans SL, Evans PA, O'Connor SJ, et al: The t(14;18) is associated with germinal center-derived diffuse large B-cell lymphoma and is a strong predictor of outcome. Clin Cancer Res 2003; 9(6):2133-2139.

[7] Crisan D: BCL-2 gene rearrangements in lymphoid malignancies. Clin Lab Med 1996; 16(1):23-47.


Last Updated: 11/4/2014

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