To help investigate or diagnose a disease or condition affecting the bone marrow or blood cell production; sometimes for staging of a lymphoma or solid tumor; to measure response to treatment for a previously diagnosed condition like leukemia
Bone Marrow Aspiration and Biopsy
When you are anemic without an obvious cause; when you have or are suspected of having a blood-related disorder or cancer that may be affecting blood cell production; sometimes when a healthcare practitioner is investigating a fever of unknown origin, especially when you have a weakened immune system (immunocompromised)
A bone marrow sample collected primarily from the hip bone (pelvis)
Bone marrow is the soft and sponge-like tissue found inside the body's larger bones that produces blood cells. Bone marrow aspiration and biopsy are procedures used to collect and evaluate bone marrow cells and structure.
Bone marrow has a honeycomb or sponge-like structure, consisting of a fibrous network that is filled with liquid. The liquid portion contains blood (hematopoetic) stem cells, blood cells in various stages of maturation, and "raw materials" such as iron, vitamin B12, and folate that are required for cell production.
The primary function of the bone marrow is to produce red blood cells (RBCs), platelets, and white blood cells (WBCs). The number and type of cell being produced at any one time is based on your body's needs (for example, if you are fighting an infection, or to keep up with blood loss) as well as a normal, continual replacement of old cells.
Red Blood Cells (RBCs)
Red blood cells, also called erythrocytes, transport oxygen throughout the body. RBCs typically make up about 40-45% of the blood volume and usually survive in circulation for about 120 days. The marrow produces RBCs at a rate that replaces old RBCs that age and degrade or are lost through bleeding, striving to maintain a relatively constant number of RBCs in the blood.
White Blood Cells (WBCs)
There are five different types of white blood cells: lymphocytes, neutrophils, eosinophils, basophils, and monocytes. Each plays a different role in protecting the body from infection.
Platelets, also called thrombocytes, are cytoplasmic fragments of very big cells seen in bone marrow called megakaryocytes and are essential for normal blood clotting.
In the bone marrow, a stem cell undergoes development and differentiation to become one of these different types of blood cells. Those that differentiate into lymphoid cells subsequently develop into lymphocytes. Other precursors further develop and differentiate into granulocytes (neutrophils, eosinophils, basophils), monocytes, platelets, or red blood cells (erythrocytes).
The cells are released from the bone marrow into circulation when they are fully mature or near full maturity. Thus, the population of cells within bone marrow will typically include cells in various stages of development, from very immature to almost fully mature.
Bone marrow aspiration and/or biopsy as "tests" include both the collection of marrow samples and the evaluation of the cells and structure under the microscope. Bone marrow samples can also be sent as needed for various other tests like flow cytometry immunophenotyping, chromosome analysis, fluorescence in situ hybridization (FISH), molecular testing, or microbiology testing (culture). A specialist who has expertise in the diagnosis of blood-related disorders performs the examination and evaluation of bone marrow samples.
Bone Marrow Aspiration
A bone marrow aspiration collects a sample of the fluid that contains cells so that they can be examined under a microscope and/or evaluated with other tests. A specialist microscopically examines slides of stained smears of the fluid from an aspiration. The cells are evaluated according to number, type, maturity, appearance, etc. and compared to those in the blood using results from a complete blood count (CBC) and blood smear. This examination determines, for example:
- The M/E ratio—this is short for myeloid/erythroid ratio. This calculation compares the number of myeloid cells (WBC precursors) to erythroid cells (RBC precursors).
- Differential—determines whether cells in each lineage (WBC, RBC, platelet-producing cells) show orderly and complete maturation, and whether the cells are present in normal proportion to one another.
- Presence of any abnormal cells, such as leukemic or tumor cells
Bone Marrow Biopsy
A biopsy collects a cylindrical core sample that preserves the marrow's structure. The biopsy sample is evaluated by a specialist to determine:
- Cellularity—the volume of cells is compared to the volume of other components of the bone marrow, such as fat (and whether cellularity is normal for age, increased, or decreased)
- Whether the different cell lineages (myeloid, erythroid and megakaryocytic) are present in adequate numbers
- If there are any abnormal infiltrates in the marrow (cancer, infection) as well as any changes to the bone marrow stroma (fibrosis, for example) or bone itself (osteoporosis)
Depending on what condition(s) a healthcare practitioner suspects or is investigating, a number of other tests may be performed on the marrow sample. A few examples include:
- In the case of leukemia, tests to determine the type of leukemia may be done. These include determination of antigenic markers (for example, immunophenotyping by flow cytometry) to provide information on the type of leukemia present, including prognostic or therapeutic markers.
- Special stains may also be used to evaluate iron storage in the marrow and to determine whether an abnormal erythroid (RBC) precursor with iron particles surrounding its nucleus (so-called ring sideroblasts) is present.
- A chromosome analysis and/or FISH analysis may be ordered to detect chromosomal abnormalities in the case of leukemia, myelodysplasia, lymphoma, or myeloma.
Molecular tests may be performed on a sample of bone marrow to help establish a diagnosis. Examples include:
- T-cell receptor gene rearrangement
- B-cell immunoglobulin gene rearrangement
- JAK2 mutation
- Bone marrow may be cultured to look for viral, bacterial, or fungal infections that can cause a "fever of unknown origin." Certain bacteria and fungi can also be detected by special stains.
The bone marrow aspiration and/or biopsy procedure is performed by a doctor or other trained specialist. Both types of samples may be collected from the hip bone (iliac crest). Sometimes, a bilateral procedure is performed, in which bone marrow is collected from both the left and right hips.
The most common collection site is the iliac crest (top ridge) of the back of the hip bone (although sometimes the front of the hip bone is sampled). Before the procedure, some patients may need to receive a transfusion, if their blood counts are very low, to prevent excessive bleeding. Most adults tolerate the procedure very well, but some may be given a mild sedative if they are very anxious. Children are frequently put under anesthesia. The patient is then asked to lie down on his or her stomach or side or back for the collection, and the person's lower body is draped with cloths so that only the area surrounding the site is exposed.
The site is cleaned with an antiseptic and injected with a local anesthetic. When the site has numbed, the health practitioner inserts a needle through the skin and into the bone. For an aspiration, a syringe is attached to the needle to collect a small amount of marrow. For a bone marrow biopsy, a special needle is used that allows the collection of a solid core (a cylindrical sample) of marrow.
Even though the patient's skin has been numbed, the patient may feel brief but uncomfortable pulling and/or pushing pressure sensations during these procedures. After the needle has been withdrawn, a sterile bandage is placed over the site and pressure is applied. The entire procedure typically lasts only minutes. The patient is then asked to keep the collection site dry and covered for about 48 hours.
- How is it used?
Bone marrow aspiration and biopsy are procedures used to evaluate the blood cells within the bone marrow, as well as its structure. They are performed in conjunction with a complete blood count (CBC) and blood smear and sometimes additional testing on the bone marrow to provide information about the health of the bone marrow and its capability for blood cell production, including red blood cells (RBCs), white blood cells (WBCs), and platelets.
Using the information from the examination, a bone marrow aspiration and/or biopsy may be used to help:
- Determine the cause of unexplained low or high blood cell counts, including too few or too many white blood cells (leukopenia or leukocytosis), too few or too many red blood cells (anemia or polycythemia), or too few or too many platelets (thrombocytopenia or thrombocythemia)
- Identify the cause of abnormal or immature blood cells present in the blood, as detected by a CBC or a blood smear
- Diagnose and subclassify cancer originating in the bone marrow (e.g., leukemia, multiple myeloma)
- Diagnose other bone marrow disorders, such as myelodysplastic syndrome (MDS)
- Diagnose and stage a variety of other types of cancers, such as lymphoma or solid tumors, that may involve or have spread to the bone marrow
- Diagnose conditions that affect the marrow and its fibrous structure, such as myelofibrosis
- Evaluate for a bone marrow infection if a person has a fever without an apparent cause (fever of unknown origin)
- Diagnose a disorder associated with iron storage that may cause stored iron to diminish
If a person is being treated for a cancer, a bone marrow aspiration and/or biopsy may be ordered to evaluate the response to treatment to determine whether suppressed marrow function is beginning to return to normal.
- When is it ordered?
Bone marrow examination is not routinely ordered. However, it may be ordered when results of other tests, such as a CBC and/or blood smear, are abnormal and a bone marrow examination is warranted.
Bone marrow examination may be ordered when an individual's medical history, physical examination, and signs and symptoms suggest the presence of a disease affecting the bone marrow.
The tests may be ordered when staging certain cancers or when it is suspected that other cancers have spread to the bone marrow.
A bone marrow biopsy and aspiration may also be ordered at intervals when a person is being treated for a cancer to evaluate response of the cancer cells to treatment, whether marrow function is being suppressed by therapy, and, if it is, when its function begins to recover.
- What does the test result mean?
The laboratory report for these tests may include a description of the cells seen and the appearance of the bone marrow environment. Results from a complete blood count (CBC) and blood smear are usually included. Typically, the specialist provides an interpretation of the findings and any other details that might be important in the diagnosis, staging, or treatment of the disease.
In many cases, this information can confirm or rule out a diagnosis and whether the bone marrow is affected by disease, but it can also point out the need for further investigation. For example, a patient with decreased red blood cells (RBCs) and no increase in reticulocytes may have aplastic anemia with suppressed RBC production in the marrow. An evaluation of the bone marrow may confirm this condition, but it does not necessarily tell the healthcare practitioner the specific cause.
The healthcare practitioner uses the information from the marrow evaluation and combines it with information from a clinical examination, medical history, blood tests, and a variety of other tests, such as imaging scans and X-rays, to reach a final diagnosis. It can be a straightforward process or it can be a complex diagnostic puzzle. Patients should stay involved in this process by talking to their health care provider before and after a bone marrow biopsy and/or aspiration, asking what the suspicions are, what kind of information is expected from the evaluation, and what follow-up tests might be indicated.
A variety of disorders and conditions may be identified, monitored, and/or staged with this process. A few examples include:
- Leukemia — cancer of the blood cells
- Anemia — low number of red blood cells and low hemoglobin
- Diseases such as aplastic anemia that can affect the marrow's ability to produce an adequate number of each of the different blood cell types and release them into circulation.
- Myelodysplastic syndrome — a group of disorders associated with dysfunctional and ineffective bone marrow that leads to decreased production of one or more types of blood cells
- Myeloproliferative neoplasms — a group of diseases characterized by the production of too many of one or more types of blood cells in the bone marrow. (e.g., chronic myeloid leukemia, polycythemia vera, essential thrombocythemia)
- Myelofibrosis — disorder characterized by the overgrowth of the fibrous network found in the marrow, compressing cells and leading to changes in red blood cell shape and changes in the cell counts
- Is there anything else I should know?
Complications from the bone marrow aspiration and/or biopsy procedure are extremely rare, but they can include excessive bleeding at the collection site or an infection. Individuals should tell their healthcare provider about any allergies they have and about any medications or supplements they are taking prior to the procedure and should contact their healthcare provider promptly if they experience persistent or spreading redness or bleeding at the site, a fever, or increasing pain.
- Will I be given general anesthesia for a bone marrow aspiration and/or biopsy?
While you will be given a local anesthetic, an injection to numb the area of the collection site, general anesthesia is not usually necessary for adults (although it is common for children). However, you may be given a sedative before the procedure.
- My report includes an M/E ratio. What is it?
M/E ratio is short for myeloid to erythroid ratio. This is the number of myeloid cells compared to the number of erythroid cells within the bone marrow. Myeloid cells are those that mature into granulocytes (neutrophils, eosinophils, basophils), and erythroid precursor cells mature into red blood cells. This result is not diagnostic of any condition but is an additional piece of information that the health practitioner may use to help determine the health of the bone marrow. For example, in the case of bacterial infection, the M/E ratio will increase due to an elevated number of granulocytic cells, whereas in case of hemolytic anemia, the M/E ratio will decrease due to an increase in erythroid cells.
- How does a bone marrow aspiration and/or biopsy compare with a bone marrow collection for donation?
Nowadays, instead of a bone marrow collection for donation, donors of hematopoietic stem cells are usually given a medication that stimulates their bone marrow to release immature cells into the blood, and those cells are collected in a process very similar to a normal blood donation. After processing, the stem cells in the donor sample are infused into the recipient and travel through the bloodstream to the recipient's marrow spaces and, if all goes right, begin to produce red blood cells, white blood cells, and platelets.