Acute Myeloid Leukemia (AML)
AML is an acute onset leukaemia involving clonal expansion of myeloid cell line derived blast cells (precursors of polymorphonuclear leukocytes). The WHO defines AML as leukaemia with bone marrow or peripheral blood blast percentage of more than 20%. AML commonly occurs after alkylating agent treatment and manifests as pancytopenia, megaloblastic bone marrow and nucleated red cells in peripheral marrow. Patients often present with chromosomal abnormalities in marrow cells. Subtypes of AML include 1) AML with recurrent genetic abnormalities 2) AML with multi-lineage dysplasia 3) Therapy-related AML 4) AML not otherwise categorized.
Acute Lymphatic Leukemia (ALL)
ALL is an acute onset leukaemia characterised by clonal expansion of lymphoid cell line derived blast cells in the bone marrow and the peripheral blood. It includes the precursor B lymphoblastic leukaemia and precursor T lymphoblastic leukaemia. ALL is the most common childhood cancer. It also accounts for approximately 20 percent of adult acute leukaemia.
Chronic Myeloid Leukemia (CML)
CML is the most common of the chronic onset myeloproliferative disorders, characterised by clonal expansion of myeloid cell line derived blast cells (precursors of polymorphonuclear leukocytes). The disease of often bi-phasic, with an initial indolent chronic phase, followed by an accelerated or blast phase. The hallmark of CML is presence of the Philadelphia chromosome, a reciprocal translocation between chromosomes 9 and 22 which activates the proto- oncogene bcr-abl. CML is typically a disease of the middle-aged or elderly. Use of stem cell transplantation for CML patients is reduced in the Imatinib era.
Myelofibrosis is a myeloproliferative disorder in which the bone marrow is replaced by fibrous tissue. This impairs the ability to generate new blood cells, leading to pancytopenia. The fibrosis of the bone marrow leads to blood forming in other organs such as the spleen and liver, leading to the classic symptoms of Myelofibrosis which include splenomegally and some degree of hepatomegally.
Myelodysplastic Syndrome (MDS)
MDS is a clonal haematopoietic disorder characterized by dysplasia and ineffective haematopoiesis in one or more cell lines. This may be accompanied by up to 20% myeloblasts (myeloblasts above 20% will fit the WHO definition for AML). MDS may occur de-novo or following exposure to alkylating agents and/or radiotherapy.
Chronic Lymphatic Leukemia (CLL)
CLL is the most common form of chronic lymphoid leukaemia. It is characterised by morphologically mature but immunologically immature lymphocytes which slowly accumulate in the blood, bone marrow and lymphatic tissue. CLL is usually an adult onset disease with the majority of patients diagnosed being males over 50 years of age. Many people with CLL lead normal and active lives for many years. Stem cell transplantation is therefore rarely used as a first-line treatment due to its associated risks.
Multiple Myeloma (MM)
MM is a bone marrow based plasma cell neoplasm (bone marrow plasma cells > 10%) characterized by high production of serum monoclonal protein (most commonly IgG) and skeletal destruction causing bone lesions, fractures, bone pain, hypocalcaemia and anaemia. It is also often accompanied by renal failure.
Hodgkin’s disease is a malignant lymphoma characterized by the presence of Reed-Sternberg cells (large, multi-nucleated cells, with prominent eosin staining inclusions in the nucleus). Hodgkin’s patients experience progressive enlargement of the lymph nodes, spleen and general lymphoid tissue. Hodgkin’s disease is sometimes accompanied by symptoms such as fever, weight loss, fatigue and night sweats.
Hodgkin’s disease occurrence is bimodal with incidence peaks in young adults (15-35) and older persons (over 55’s).
Non Hodgkin’s (NHL)
NHL comprises of all lymphomas except Hodgkin’s lymphoma. NLH are a diverse group of diseases which have been divided into several subtypes based on whether the disease is indolent or aggressive and whether T or B cells are involved. Subtypes of NHL include Diffuse B Cell Lymphoma, Follicular Lymphoma, Mantle Cell Lymphoma, Burkitt Lymphoma, Peripheral T Cell Lymphoma and Adult T Cell Lymphoma.
Non Malignant Disorders
Aplastic Anaemia (AA)
AA is a serious disorder of the bone marrow, characterised by pancytopenia and a hypocellular bone marrow. AA can be idiopathic or secondary due to bone marrow damage by toxins, radiation, or immunologic factors.
Specific treatment of aplasia involves either immunosuppressive therapy (IST) with antithymocyte globulin (ATG) and cyclosporine or allogeneic stem cell transplantation.
The Thalassemias are a heterogeneous group of hereditary autosomal recessive haemolytic anaemia’s which have in common a decreased rate of synthesis of one or more haemoglobin polypeptide chains, resulting in anaemia.
Sickle cell is a disease characterized by chronic haemolytic anaemia, episodic painful crises and pathologic involvement of many organs. Sickle Cell Disease is an autosomal recessive disease, its genetic basis being the homozygous expression of haemoglobin S.
Severe Combined Immunodeficiency (SCID)
SCID is a heritable immunodeficiency syndrome arising as a result of defects to several genes in the B and T cell arms of the adaptive immune response. Sufferers are extremely vulnerable to infectious diseases.
The Autoimmune Diseases comprise a large group of disorders characterized by pathologic immune reactions to autologous tissue. Autoimmune Diseases may be systemic (e.g. Systemic Lupus Erythematosus) or they may be organ specific, (e.g. Thyroiditis).
Neuroblastoma is a metastatic malignant neoplasm often originating in the adrenal gland before spreading to other parts of the body. It is often asymptomatic before metastases. It has a characteristically early onset.
Germinal Tumours are neoplasms of the ovary and other uterine tissue or testis. The neoplasms may be benign or malignant.
Breast Cancer is a metastatic malignant neoplasm originating in breast tissue. The vast majority of cases are carcinomas arising from the breast parenchyma or the nipple. Malignant breast neoplasms occur more frequently in females than in males.
Ewing Sarcoma is a rare malignant neoplasm of bone and articular cartilage. The most frequently affected sites are the pelvis, femur, humerus, ribs and clavicle. Ewing Sarcoma is more common in young males, presenting between the ages of 10 to 20.
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