• Acute lymphoblastic leukemia (ALL)

    • Acute lymphoblastic leukemia (ALL) is a fast-growing cancer of immature white blood cells called lymphoblasts. Normally lymphoblasts develop into mature lymphocytes, which help fight infections. In ALL, there is an overabundance of abnormal lymphoblasts in the bone marrow and blood which crowd out normal cells. Many tests may be used to categorize ALL and variant forms of ALL including flow cytometry, cytogenetics, FISH and various molecular tests.
  • Acute myeloid leukemia (AML)

    • Acute myeloid leukemia (AML) is a fast-growing cancer of immature white blood cells called myeloblasts, which normally develop into a variety of blood cells that fight infection and promote healing. In AML, there is an overabundance of myeloblasts in the blood and bone marrow which crowd out normal cells. AML has several subtypes including acute promyelocytic leukemia which is treated differently than other subtypes. Many tests may be used to categorize these subtypes including flow cytometry, cytogenetics, FISH and various molecular tests. Other names for AML which you may still see occasionally in use include acute myelogenous leukemia, acute myeloblastic leukemia, acute granulocytic leukemia, acute myelocytic leukemia, and acute nonlymphocytic leukemia.
  • Acute promyelocytic leukemia (APL)

    • Acute promyelocytic leukemia (APL) is a subtype of AML in which there is an overabundance of immature blood cells called “promyelocytes” and deficiency in mature white blood cells. The disease is characterized by severe bleeding and defective coagulation (blood clotting). APL is associated with an exchange of DNA from chromosome 15 and chromosome 17, creating a fusion gene PML/RARA. Specific therapy for APL targets PML/RARA and can lead to successful outcomes.
  • adenocarcinoma

    • adenocarcinoma is a common type of cancer found in various forms in many organs including lung, breast, ovary, pancreas and colon. Cells that line the inner surfaces of these tissues can form complex structures that resemble glands or folds within the lining.
  • ALK gene

    • ALK gene refers to the Anaplastic Lymphoma receptor tyrosine Kinase gene. Mutations in the ALK gene are associated with certain kinds of cancer, such as anaplastic large-cell lymphoma (ALCL), non-Hodgkin lymphoma (NHL), non-small cell lung cancer (NSCLC) and inflammatory myofibroblastic tumors.
  • anemia

    • anemia is a medical condition in which the number of red blood cells or the amount of iron or hemoglobin in those cells is below normal. Symptoms include weakness or fatigue and paleness of the skin. It can sometimes be caused by excessive menstrual bleeding, insufficient dietary iron, chronic illness or other medical conditions.
  • Aplastic anemia

    • Aplastic anemia is a severe anemia in which the bone marrow fails to produce enough blood cells, including white blood cells and red blood cells.
  • B-cell chronic lymphocytic leukemia (B-CLL)

    • B-cell chronic lymphocytic leukemia (B-CLL) is usually a slowly progressing cancer with high numbers of B-lymphocytes (a type of immune cell) in the bone marrow and circulating in the blood. The CLL cells can crowd out normal cells in the bone marrow leading to anemia.
  • BCR-ABL fusion gene

    • BCR-ABL fusion gene refers to an abnormal gene that is detected in >95% of patients with chronic myelogenous leukemia (CML) and some patients with acute lymphoblastic leukemia (ALL) and acute myeloid leukemia (AML). An exchange of genetic material from chromosome 9 and chromosome 22 causes the abnormal BCR-ABL gene to occur. Certain therapies for CML target BCR-ABL.
  • BCR-ABL level

    • BCR-ABL level is a measurement of the quantity of abnormal BCR-ABL in the blood or bone marrow which correlates with amount of leukemic cells in the marrow. Testing for BCR-ABL levels is an effective way to monitor response to specific therapies for chronic myelogenous leukemia (CML).
  • biopsy

    • Biopsy is the removal and examination of cells or tissue for the purpose of obtaining a diagnosis. A biopsy can be performed as an incision to remove either a sample of the suspected tissue or to remove the entire suspicious tissue. A needle biopsy is a less invasive procedure that removes a sample of tissue or fluid containing cells for testing.
  • blast cells

    • blast cells are immature blood-forming cells. In blood cancers, an abnormal accumulation of blast cells can lead to overcrowding in the bone marrow and decreased levels of the mature blood cells.
  • bone marrow

    • bone marrow is made up of immature blood cells and fat which lies within sponge-like cavities in the center of your long bones, pelvis, ribs and other larger bones. Bone marrow is where blood cells are produced. As you age the bone marrow normally contains more fat cells and fewer immature blood cells making you more susceptible to anemia.
  • bone marrow biopsy

    • bone marrow biopsy is the removal and examination of the bone marrow to determine if there are abnormalities in the immature and mature blood cells. A bone marrow biopsy is performed by inserting a needle through the skin into the bone. A portion of the bone marrow is also aspirated through the needle to obtain cells needed for full examination. The bone marrow sample is examined by a physician who is either a pathologist or a hematologist to determine if any abnormalities are present.
  • braf gene

    • BRAF gene directs the production of the BRAF protein, which is part of the signaling pathways inside the cell that lead to cell growth or programmed cell death (apoptosis). The BRAF gene is mutated in many cancers, causing the mutant BRAF protein to support cancer growth and survival.
  • breast cancer markers

    • breast cancer markers such as estrogen receptor (ER), progesterone receptor (PR), and HER2 are used to help guide therapy decisions after a diagnosis of breast cancer. They are proteins made by the tumor which can be targeted by specific therapies. Other markers such as Ki67 and p53 also may be used to help determine need for chemotherapy, although they are not specific targets of therapy.
  • chromosomes

    • chromosomes contain the DNA for hundreds of thousands of individual genes which can make specific proteins in your cells. Each cell contains a full complement of 46 chromosomes. Cancer cells can contain more or less chromosomes or changes in the structure of chromosomes affecting individual genes. The chromosomal changes seen in cancer cells are usually acquired long after birth and are not usually inherited or seen in normal cells.
  • Chromosome Abnormality

    • Chromosome abnormality is an error in the number or structure of one or more chromosomes. These errors might be present from birth or induced at some point during a lifetime. Under normal conditions, there are 23 pairs of chromosomes (46 total), but numerical mistakes can occur causing a missing chromosome (monosomy) or duplication of a chromosome (trisomy, tetrasomy, etc.). Portions of the chromosomes may also be lost (deletions), reversed (inversions), duplicated or moved by attachment to another chromosome (translocations).
  • Chronic Lymphocytic Leukemia (CLL)

    • Chronic lymphocytic leukemia (CLL) is a slowly developing cancer of the blood and bone marrow in which there is an abnormal accumulation of a particular type of white blood cell called B lymphocytes (B cells). These abnormal lymphocytes are dysfunctional and may crowd out healthy blood cells, often leading to anemia and an inability to fight infection.
  • Chronic Myeloid Leukemia (CML)

    • Chronic myeloid leukemia (CML) - previously known as chronic myelogenous leukemia - is a slowly progressing cancer of non-lymphocyte white blood cells. CML is usually associated with a chromosomal translocation, involving chromosomes 9 and 22 t(9;22), This translocation results in the BCR-ABL fusion gene, and the chromosome that contains this fusion gene is termed the “Philadelphia chromosome”.
  • Clinical Cytogeneticist

    • Clinical cytogeneticist is a Ph.D. or M.D. level professional who specializes in examining chromosome samples from patients to determine if there are abnormalities in the number or structure of chromosomes.
  • clinical trial

    • a clinical trial is an investigative comparison of a new drug or medical device needed to determine safety and efficacy. Clinical trials are built by recruiting patient volunteers who agree to undergo a blinded study taking either the conventional therapy or the new therapy (often in combination with existing approved therapies). If the drug is shown to be safe and more effective in three phases of trials it is usually granted approval for clinical use by the U.S. Food and Drug Administration (FDA). Phase I trials aim to determine the appropriate dose and possible side effects of a drug. Phase II investigates the drug in a small number of patients with the disease at the dose determined in phase I to be most beneficial. Phase III trials investigate the drug in a larger sample of patients.
  • cytoplasmic immunoglobulin fluorescence in situ hybridization (cIg FISH)

    • cytoplasmic immunoglobulin fluorescence in situ hybridization (cIg FISH) is a laboratory test that uses a fluorescent tag or marker to identify plasma cells in the bone marrow of patients with multiple myeloma. These cells are then examined with FISH to identify losses or changes of specific chromosomes that are associated with differences in tumor behavior or risk of progression.
  • DNA microsatellites

    • DNA microsatellites are repetitive DNA sequences, generally consisting of 2-10 bases (building blocks) repeated up to 50 times in tandem. DNA microsatellites are distributed throughout the genome, and the same short sequence might occur tens of thousands of times in the genome. At a given location, the number of repeats can vary uniquely from person to person. Mutations that change the number of repeats at a particular location can lead to cancer, and this is referred to as “microsatellite instability”.
  • EGFR gene

    • The EGFR gene makes the epidermal growth factor receptor (EGFR) protein which helps regulate cell growth. Mutations in the EGFR gene that result in specific defects in the EGFR protein are associated with certain types of cancer, particularly non-small cell lung cancer (NSCLC).
  • Epithelial Cells

    • Epithelial cells are cells that join together along their edges and surfaces to form one or more layers that cover the surface of the body and line the cavities of internal organs. The shapes of these cells range from columnar and cuboidal (cube-like shape) to squamous (flat).
  • Essential (or Primary) Thrombocythemia (ET)

    • Essential (or primary) thrombocythemia (ET) is a condition in which there is a substantial increase (proliferation) in the number of platelets in the blood and immature cells that form platelets in the bone marrow. It may be associated with specific mutations such as a JAK2 mutation. It is characterized by repeated, spontaneous hemorrhaging, either internally or to the exterior of the body. Essential (or primary) thrombocythemia is also known as hemorrhagic thrombocythemia.
  • estrogen/progesterone receptors (ER/PR)

    • estrogen/progesterone receptors (ER/PR) are proteins found in cells of the breast and female reproductive tissues and some other cell types. The ER and PR bind the hormones estrogen and progesterone, respectively, inside the cell. Upon binding, each receptor initiates a series of events that ultimately stimulate cell growth. Cancer cells that are positive for ER or PR may be amenable to hormone therapy.
  • Gene Rearrangement

    • Genetic sequence is the specific order of successive DNA bases (building blocks) in a gene. The precise order of the DNA bases in a gene determines how a protein will be formed. Changes in the genetic sequence can affect the protein, possibly rendering the protein ineffective, overactive, or detrimental.
  • Genetic Sequence

    • Genetic sequence is the specific order of successive DNA bases (building blocks) in a gene. The precise order of the DNA bases in a gene determines how a protein will be formed. Changes in the genetic sequence can affect the protein, possibly rendering the protein ineffective, overactive, or detrimental.
  • HER2 (or HER-2/neu)

    • HER2 (or HER-2/neu) is a gene that produces the HER2 protein, found in certain breast cancers. When the gene is altered or duplicated many times it can lead to overproduction of the HER2 protein which stimulates cancer cell growth. Certain therapies can target this protein and inhibit the growth of HER2 positive breast cancer. HER2 overproduction is also found in certain cancers of stomach, pancreas, and other organs.
  • HER2 Protein

    • HER2 protein is produced by the HER2 gene typically when there are extra copies of the gene (gene amplification). It is found on cells of certain cancers of the breast, pancreas, stomach, lung and ovary to varying degrees. HER2 protein on the surface of cells helps transmit signals to the inside the cell that stimulate growth. Extra HER2 protein in breast cancer can cause a more aggressive form of cancer, but when present, it can be targeted by certain therapies directed to HER2 positive cancer cells.
  • Hereditary Non-Polyposis Colorectal Cancer (HNPCC)

    • Hereditary non-polyposis colorectal cancer (HNPCC) is an uncommon, inherited form of colon cancer that arises from mutations in genes specific for proteins that repair DNA. Mismatch repair gene defects can cause variation in the DNA sequences that lead to other abnormalities and eventually cancer. Patients with HNPCC often develop cancer at an earlier age than might otherwise be expected. They can also have relatives with cancer. HNPCC can be associated with several other forms of cancer, including endometrial, ovarian, pancreas, stomach, small bowel, biliary, and urinary tract carcinomas. HPNCC is also known as Lynch Syndrome.
  • Hodgkin Lymphoma

    • Hodgkin lymphoma is a cancer of lymph nodes or lymphoid tissue that is can occur in either younger or older persons. It has a better prognosis than many other types of non-Hodgkin lymphoma when treated and can often be cured. Hodgkin cells and Reed-Sternberg cells in this tumor are surrounded by varying degrees of other normal cells forming an exaggerated immune response which can form masses or tumors in lymph nodes, spleen or bone marrow typically. Nodular lymphocyte-predominant Hodgkin lymphoma is an uncommon variant which more closely resembles other non-Hodgkin lymphomas in some respects, but is often more effectively treated.
  • Idiopathic Myelofibrosis

    • Idiopathic myelofibrosis is a progressive disease of the bone marrow characterized by an excess of defective cells and marrow fibrosis (scarring) which replaces normal marrow elements leading to anemia. It is sometimes associated with alterations in the JAK2 gene or JAK2 signaling pathways which spur an abnormal marrow proliferation and fibrosis. Idiopathic myelofibrosis was also referred to as agnogenic myeloid metaplasia in older terminology.
  • IgVH

    • IgVH is a portion of the gene responsible for making immunoglobulins (antibodies) that help fight infection. IgVH is the sequence of DNA that produces the variable region of the heavy chain of an immunoglobulin (antibody) protein in B-cells. Mutations in this gene may alter the growth of chronic lymphocytic leukemia leading to a more indolent form of the disease which has better prognosis and may not require immediate therapy. Unmutated IgVH is associated with more aggressive behavior of CLL which might be more amenable to therapy sooner than later.
  • Immunohistochemistry (IHC)

    • Immunohistochemistry (IHC) is a laboratory technique that uses antibodies to microscopically identify specific proteins (antigens) in a sample of tissue or cells. In cancer, IHC is used to detect characteristic protein markers to help with diagnosis or to identify the originating cell type of metastasized tumors.
  • JAK2 Gene, or Janus Kinase 2 Gene

    • JAK2 gene, or Janus kinase 2 gene, is a gene that directs the production of the JAK2 protein. A component of the JAK/STAT signaling pathway, JAK2 is important for the normal development and maturation of red blood cells, but in mutated forms can lead to proliferative disorders of bone marrow such as polycythemia vera (PV) and essential thrombocythemia (ET), known collectively as myeloproliferative neoplasms (MPN).
  • Kidney

    • Kidney is one of a pair of organs in the body responsible for filtering waste products from the blood, regulating acid concentration, and maintaining water balance in the body by producing urine. The kidneys are part of the urinary tract, and urine passes from the kidney to the bladder via a connecting tube called a ureter.
  • KRAS Gene

    • KRAS gene directs the production of the KRAS protein, which is part of signaling pathways inside the cell that lead to cell growth or programmed cell death (apoptosis). The KRAS gene is mutated in many cancers, causing the mutant KRAS protein to support cancer growth and survival.
  • Lymph Node(s)

    • Lymph node(s) are small, bean-shaped masses of tissue distributed throughout the body as part of the “lymphatic system.” Lymph nodes contain collections of lymphocytes which are specialized white blood cells that fight infection. Lymph nodes are an important site for proliferation of B-lymphocytes or B-cells. Immune cells congregate in an interior compartment of a lymph node called the “germinal center”. The germinal center is where B-cells are exposed to antigens, a substance that triggers an immune response. B-cells produce an antibody that specifically recognizes and reacts with a particular antigen. Once a B-cell is programmed to produce a specific antibody, all of its “daughter” cells will produce the same antibody.
  • Lymphocyte

    • Lymphocyte is a type of white blood cell involved in fighting infection. There are two main types of lymphocytes: B lymphocytes (B-cells), which make antibodies, and T lymphocytes (T-cells), which participate in the cellular response to infections.
  • Lynch Syndrome

    • Lynch Syndrome - also known as hereditary non-polyposis colorectal cancer (HNPCC) - is a rare, inherited form of colon cancer that arises from mutations in DNA mismatch repair genes. Under normal conditions, DNA mismatch repair proteins repair mistakes in DNA. Lynch Syndrome is sometimes associated with other forms of cancer, including endometrial, ovarian, pancreas, stomach, small bowel, biliary, and urinary tract carcinomas.
  • Microsatellite Instability

    • Microsatellite instability (MSI) occurs when spontaneous mutations in repetitive sequences of DNA called “microsatellites” change the normal pattern of DNA at a given location. Changes in the DNA microsatellite number can cause destabilization of the chromosomes and lead to increased frequency or early onset of various cancers. High MSI (MSI-H) can be inherited causing HNPCC (Lynch Syndrome), but is more frequently sporadic, occurring long after birth in localized areas of the body which does not affect other relatives. MSI-H has been linked to certain cancers such as colon cancer and endometrial cancer (uterine cancer).
  • Minimal Residual Disease (MRD)

    • Minimal residual disease (MRD) refers to the small number of cancer cells that remain during or after a patient receives cancer treatment(s). MRD is often the cause of relapse or recurrence of cancer. Detection of this small number of cells is achieved by certain molecular (DNA, RNA, or protein) tests and can indicate if traces of the cancer remain. In leukemia, MRD tests can detect fewer than one cancer cell in a population of 1,000 cells.
  • Monoclonal B-cell Populations

    • Monoclonal B-cell populations refer to a population of B-cells that are genetically similar because they are all derived from the same “parent” B-cell. Typically these cells all express the same antibodies or have identical changes associated with immunoglobulin production. As a result, monoclonal B-cells which crowd out normal cells in a lymph node do not have the normal variation used to fight infection. Masses of these cells can form tumors in lymph nodes and other organs called lymphomas. In the blood and bone marrow they can cause certain types of leukemia such as CLL.
  • Monoclonal Gammopathy of Undetermined Significance (MGUS)

    • Monoclonal gammopathy of undetermined significance (MGUS) is a blood disorder in which there is a monoclonal proliferation of genetically similar plasma cells. Plasma cells are specialized B-cells which normally secrete immunoglobulin (antibodies) into the blood, intestines and other tissues to fight infection. MGUS plasma cells may lack the diversity needed to fight infection and may collectively cause other problems such as anemia, kidney disease or sensory nerve disorders (peripheral neuropathy). MGUS is most often very slowly progressive or non-progressive and rarely becomes a malignant disorder, however a small percentage of patients with MGUS will develop multiple myeloma sometimes 10 years or more after the onset of MGUS.
  • Monoclonal Population of Plasma Cells

    • Monoclonal population of plasma cells is a population of genetically similar plasma cells, which are mature white blood cells of B-cell origin that produce and release antibodies. Plasma cells are specialized B-cells which normally secrete immunoglobulin (antibodies) into the blood, intestines and other tissues to fight infection. Monoclonal plasma cells in disorders such as MGUS or multiple myeloma may lack the diversity needed to fight infection and may collectively cause other problems such as anemia, kidney disease or sensory nerve disorders (peripheral neuropathy). Monoclonal plasma cells can be identified via tests which examine antibodies produced by plasma cells in the blood, urine or tissues such as bone marrow.
  • Monoclonal T-cell Populations

    • Monoclonal T-cell populations refer to a population of T-cells that are genetically similar because they share gene rearrangements which make proteins called T-cell receptors. T-cell receptors are normally used to fight certain types of infection, but in a monoclonal T-cell population they may lack the necessary diversity to do so and can cause proliferations of abnormal T-cells leading to certain lymphocyte disorders including T-cell lymphoma or certain types of T-cell leukemia. T-cells disorders are less common than B-cell disorders and they can more frequently occur in unusual locations such as the skin or thymus or mediastinum (central chest tissues above the heart). The thymus is a small organ of the mediastinum which contains immature T-cells.
  • Multiple Myeloma

    • Multiple myeloma is a cancer of plasma cells typically occurring in the bone marrow and other tissues such as the gastro-intestinal tract where plasma cells reside. In multiple myeloma a monoclonal plasma cell population overproduces an abnormal immunoglobulin (antibody) or paraprotein which can be detected in the blood or urine. The paraprotein can lead to significant complications such as kidney disease and the lack of other normal antibodies can lead to infections. Large collections of monoclonal plasma cells can form isolated tumors (plasmacytomas) or can extensively involve the bone marrow crowding out normal cells and leading to anemia or bone loss and scattered bony lesions visible on X-rays.
  • Non-Hodgkin Lymphoma (NHL)

    • Non-Hodgkin Lymphoma (NHL) refers to a group of lymphoid cancers with varying patterns of behavior and responses to therapy. NHL cancers develop from abnormal lymphocytes and are categorized according to their prognosis. Indolent lymphomas generally have a good prognosis in early stages, whereas more aggressive lymphomas may have a less favorable outcome Most lymphomas respond to some type of therapy and significant advances in the care of this type of cancer have revolutionized the field of oncology in the past decade. More common types of NHL include diffuse large B-cell lymphoma, follicular lymphoma, mantle cell lymphoma and small lymphocytic lymphoma (SLL) which is closely related to chronic lymphocytic leukemia (CLL). More than 90% of NHL is associated with a chromosomal abnormality typically involving genes that help form immunoglobulins (Ig or antibodies) or T-cell receptors (TCRs). Certain types of lymphomas are associated with viral infections such as Epstein Barr virus (EBV) and can be seen more frequently in certain populations at risk including immunocompromised patients.
  • Non-Small Cell Lung Cancer (NSCLC)

    • Non-small cell lung cancer (NSCLC) is one of two broad categories of lung cancer, the other being small cell lung cancer (SCLC). Several types of NSCLC occur in the lung including adenocarcinoma, squamous cell carcinoma, and large cell carcinoma and each is characterized or diagnosed based on the types of cells found the in the cancer and the cancer cell appearance when tissue sections of cancer are viewed by a pathologist with a microscope. Several types of NSCLC are now recognized to have specific molecular changes such EGFR mutation or ALK gene rearrangements which make them more responsive to specific therapies which target these molecules or closely related molecules. Very significant advances in the care of NSCLC have occurred in the past few years which are revolutionizing the field of oncology.
  • p53 Gene

    • p53 gene directs the production of the p53 protein. p53 has many functions but is principally responsible for protecting against the replication of cells with defective DNA which may cause cancer or inherited defects. For this reason p53 has been called the “guardian of the genome.” In normal tissues, p53 proteins prevent cells from growing excessively, and this prevents the formation of tumors. Mutations in the p53 gene caused by smoking, radiation or other genetic insults can lead to a dysfunctional p53 protein which is unable to regulate cell growth and help stop tumor formation. Rare forms of inherited p53 deficiency or defect are seen in LiFaumeni syndrome. These patients may develop cancer at an early age and are particularly vulnerable to sun damage of their skin cells or radiation therapy side effects.
  • Paraprotein

    • Paraprotein is an aberrant immunoglobin (or antibody protein) found in the blood or urine produced by a population of atypical plasma cells in the bone marrow which are monoclonal (see monoclonal plasma cells or monoclonal gammopathy of undertermined significance or multiple myeloma). An overabundance of a paraprotein can lead to significant complications such as kidney disease or sensory nerve disorders (peripheral neuropathy), as well as fewer normal immunoglobulins which can lead to infections. Also referred to as a monoclonal immunoglobulin or M protein.
  • PCR (Polymerase Chain Reaction)

    • PCR (polymerase chain reaction) is a laboratory technique used to analyze short sequences of DNA in blood, bone marrow or tissue samples that contain only a small amount of original DNA material. PCR is used with probes to specific DNA sequences to increase the amount of a predetermined short piece of DNA many thousand times. Aberrant DNA sequences can be amplified by PCR to identify mutations. Larger portions of DNA may be amplified and then analyzed by other techniques to determine mutations occurring over a larger area of DNA such as an entire gene structure like EGFR. EGFR mutations, KRAS mutations, JAK2 mutations, and p53 mutations are a few examples of changes that are found in various cancers. Identification of certain mutations can lead to more accurate diagnosis and better therapy choices for those cancers.
  • Platelets (Thrombocytes)

    • Platelets (thrombocytes) are small cell-like particles in the blood that clump together to assist in blood clotting (coagulation). Platelets are not complete cells as they lack nuclear material (DNA or chromosomes), but they are derived from large bone marrow cells called megakaryocytes and contain cellular proteins and membranes. High platelet numbers can be seen in many reactive conditions, however if very high they could indicate the presence of a myeloproliferative bone marrow disorder such as essential thrombocythemia (ET). Low platelet numbers may be seen in patients with chronic bleeding or clotting disorders, however very low numbers are more typically seen in patients who have received chemotherapy or who have bone marrow failure. Platelet counts can recover quickly following treatment. Patients receiving platelet transfusions can form antibodies against platelets particularly over time which makes them less amenable to further transfusion support.
  • PML/RARA

    • PML/RARA or promyelocytic leukemia/retinoic acid receptor is an abnormal fusion protein created by a chromosomal translocation of genetic material on chromosomes 15 and 17. PML/RARA is associated with the development of acute promyelocytic leukemia (APL). APL is a unique acute myeloid leukemia (AML) requiring prompt treatment to prevent complications of blood clotting or bleeding. PML/RARA can be targeted with a specific therapy (all-trans retinoid acid or ATRA) which helps prevent these complications prior to initiation of other therapies used in acute leukemia. PML/RARA can be identified by at least two distinct molecular tests (RT-PCR or FISH) while the translocation t(15;17) can be identified by cytogenetic testing. Each test has certain advantages.
  • Polycythemia Vera (PV)

    • Polycythemia Vera (PV) is a proliferative bone marrow disorder characterized by an overproduction of red blood cells, which is often accompanied by an increase in neutrophils (infection-fighting white blood cell) and platelets. PV arises from the proliferation of a single (clonal) multipotential blood cell and is very often (more than 90% of time) associated with a JAK2 mutation identified in blood or bone marrow cells. Long standing PV can lead to marrow fibrosis and eventual anemia, whereas PV is more typically associated with high red blood cell counts.
  • Primary Myelofibrosis (PMF)

    • Primary myelofibrosis (PMF) is a chronic bone marrow disorder characterized by proliferation of multipotential myeloid precursor cells and replacement of marrow with connective (fibrous) tissue. The fibrous tissue crowds out normal marrow cells sometimes displacing marrow cells into other organs. Approximately 50% of cases are associated with a mutation in the JAK2 gene. Also known as chronic idiopathic myelofibrosis and myeloid metaplasia.
  • Prostate

    • The prostate is walnut-sized gland located beneath the bladder and surrounding the prostatic urethra in the male reproductive system. It secretes a milky substance into the urethra during ejaculation of semen. Prostate cancer is a frequent incidental finding in older men. It can become clinically significant in a small portion of these men who may be treated for this cancer usually by surgery or radiation. Pathologists may review prostate biopsies and order immunohistochemistry (IHC) stains to evaluate biopsies in patients suspected of having prostate cancer. IHC stains can help pathologists distinguish cancer from benign (non-cancerous) tissue.
  • Quantitative RT-PCR

    • Quantitative RT-PCR is a laboratory technique that amplifies or increases specific types of DNA related to a particular gene that may be characteristic of a particular cancer or infection for purposes of detection. RT-PCR also quantifies the amount of DNA product accumulating over time while the PCR reaction is taking place which helps determine how much of the abnormal gene or tumor DNA may be present in the original sample (for example in a blood or bone marrow sample). A testing example is RT-PCR for the abnormal gene BCR-ABL which is used to monitor response to therapy for chronic myelogenous leukemia (CML). When the RT-PCR shows very little BCR-ABL, or no significant increase over time, the course of therapy is considered effective. Results of quantitative RT-PCR tests are extremely sensitive and can detect minor amounts of DNA (such as BCR-ABL) which may not be clinically significant but remain in the bone marrow long after treatment. Such patients may be considered in clinical remission from CML as long as the BCR-ABL levels remain low.
  • Red Blood Cells (Erythrocytes or RBCs)

    • Red blood cells (erythrocytes or RBCs) are specialized mature blood cells that primarily contain hemoglobin - an iron rich protein complex - which carries oxygen to tissues throughout the body. Most RBCs in the blood do not contain a nucleus with DNA and hence cannot divide. They stay in the blood for about 45 days after leaving the bone marrow where they are formed. Immature erythroid cells or RBCs in the bone marrow typically contain a nucleus and can divide forming new cells which replenish the RBCs in your blood. Patients with bone marrow conditions that affect dividing cells can cause patients to have either too many or too few RBCs (anemia). When there are far too many RBCs in the blood the patient may have polycythemia vera. When there are too few RBCs the patient may have anemia, usually related to iron deficiency, chronic illness, chronic bleeding or some other condition which disturbs normal RBC production or the lifespan of RBCs. Less commonly, anemia may indicate a more serious condition in which the marrow contains abnormal cells causing myelodysplasia or leukemia. Anemia is one of the most commonly encountered medical conditions, particularly in older patients whose bone marrow is more easily affected by medications or other illnesses. Anemia is not always serious as it can commonly be associated with dietary deficiency, a temporary illness, or bleeding that can be corrected. A variety of tests, sometimes including bone marrow evaluation is used to evaluate anemia that is persistent or chronic.
  • RT-PCR Test

    • RT-PCR test is a laboratory technique that can detect very small quantities of specific DNA sequences in blood, bone marrow or other tissues. Results of RT-PCR tests can be used to detect the presence of particular types of tumor, particularly certain leukemias, or to evaluate the response to therapy of a particular leukemia or other disease over time. Certain types of RT-PCR can also help determine the quantity of abnormal DNA remaining in blood or bone marrow after leukemia treatment. See also quantitative RT-PCR in this glossary.
  • Small Cell Lung Cancer (SCLC)

    • Small cell lung cancer (SCLC) is one of two main categories of lung cancer. The other is non-small cell lung cancer (NSCLC). Small cell lung cancer is typically more rapidly growing and is treated differently than NSCLC. Small cell lung cancer is typically treated right away with chemotherapy and not by surgery. NSCLC may be treated with surgery first, if it is relatively small when identified. Because certain types of NSCLC grow more slowly or may have specific genetic alterations that can be targeted with new treatments, it is not unusual for patients with NSCLC to be treated very differently than patients with small cell lung cancer.
  • Squamous Cell Carcinoma

    • Squamous cell carcinoma is a type of cancer that forms squamous cells which contain abundant keratin, a protein found in cells that cover your skin and which line certain internal organs like your mouth, nose, throat and part of your digestive system. Squamous cell carcinoma is the second most common form of skin cancer and more commonly occurs in people with fair skin who have a long history of sun exposure and sun damage to their skin. Certain types of squamous cell carcinoma can also occur in the lung, throat (pharynx), voice box (larynx) or various other organs.
  • t(15;17) Translocation

    • t(15;17) translocation is an abnormal exchange of genetic material between chromosome 15 and chromosome 17 which forms an abnormal gene PML/RARA and protein which causes acute promyelocytic leukemia (APL), a specific form of acute myeloid leukemia (AML). It is important to identify t(15;17) in patients suspected of having APL as this form of leukemia is treated differently than other forms of AML to reduce the risk of complications from bleeding or blood clotting. The t(15;17) can be detected by either cytogenetics, FISH or RT-PCR. Each test method has certain advantages, but either FISH or RT-PCR is typically used because they are faster tests.
  • T-cell Receptor (TCR)

    • T-cell receptor (TCR) is a specific protein located on the surface of certain white blood cells known at T-lymphocytes or T-cells. T-cells are important regulators of your immune function helping to fight viral infections and to recognize your own tissue vs. foreign tissue such as a parasite or transplanted tissue from another individual. T-cell receptors have incredible diversity acquired during childhood such that your body can fight a wide variety of infections. The T-cell receptor gene which makes the TCR protein can be altered in a particular way in certain T-cell proliferations that may progress to T-cell leukemia or lymphoma. A molecular PCR based test may be used to identify TCR gene rearrangements in patients having unusual lymphocytic proliferations, particularly those involving the skin, conjunctiva (inside the eyelids) or other locations where T cells are the predominant lymphocyte.
  • Transitional Cell Carcinoma (Urothelial Cell Carcinoma)

    • Transitional cell carcinoma (urothelial cell carcinoma) is a type of cancer - typically of the bladder - forming in a thin layer of tissue lining the bladder. It may also occur in the right or left ureter, or the renal pelvis which is a portion of the kidneys that collects urine going into the ureters, or uncommonly in the urethra which drains the bladder. Urothelial carcinoma contains transitional cells, which become larger and contain abnormal genetic changes that can be identified with tests such as UroVysion® FISH probes which provide a visual signal of extra chromosomes or chromosome losses seen under a special microscope. Urothelial cancer can usually be treated effectively if detected at an early stage, hence the importance of certain tests used to evaluate urine.
  • Ureters

    • Ureters are the tubes connecting each kidney to the bladder. Normally, urine produced by the kidneys travels in one direction from the kidney to the bladder via the ureters. A ureter can be affected by kidney stones or tumors that obstruct the normal flow of urine potentially causing damage to the kidney above it. This may affect both ureters if the obstruction lies in the bladder or bladder outlet (urethra).
  • Urethra

    • Urethra is the tube that discharges urine from the bladder to the exterior of the body. In males, the urethra passes through the prostate and shaft of the penis and also carries semen which enters near the prostate. In females, the urethra is considerably shorter and exits just above the vagina.
  • White Blood Cell (Leukocyte)

    • White blood cell (leukocyte) refers to a group of several types of blood cells that are essential for the proper function of the immune system. Types of leukocytes include lymphocytes, macrophages, monocytes and granulocytes. There are several granulocytes including neutrophils, eosinophils and basophils. In contrast to red blood cells, this group of cells does not contain hemoglobin, but does contain a nucleus with DNA material, hence they look white (in large collections) when separated from red blood cells. You may find large collections of white blood cells in skin wounds or large pimples that contain “pus.” Pus is mainly composed of mature granulocytes which fight bacterial infections. White blood cells are also typically separated from red blood cells in commonly used red blood cell units which may be transfused during surgery or to injured bleeding patients in the emergency room. White blood cells are made rapidly in your bone marrow and do not last as long in the blood, hence they are removed to increase the life span of stored red blood cell units and to prevent complications if they are transfused.
  • Urinary Bladder

    • Urinary bladder is an elastic, muscular sac that temporarily stores urine for periods of up to several hours. Urine is produced by the kidneys and is collected in the bladder until voided. The bladder is usually smaller than your fist, but can abnormally enlarge when the bladder outlet is obstructed. In older age, men often have enlargement of their prostate (prostatic hypertrophy) which can cause symptoms affecting urinary voiding. This typically is not the fault of the bladder, but of the prostate. Prostate cancer generally does not cause urinary obstruction in early stages as it more commonly arises in the outer parts of the prostate.