Leukaemia Flashcards
What is acute lymphoblastic leukaemia (ALL)?
Acute lymphoblastic leukaemia (ALL) is the most common malignancy affecting children and accounts for 80% of childhood leukaemias.
What is the peak incidence age for ALL?
The peak incidence is at around 2-5 years of age.
Which gender is more commonly affected by ALL?
Boys are affected slightly more commonly than girls.
What are the predictable features of bone marrow failure in ALL?
Anaemia: lethargy and pallor; Neutropaenia: frequent or severe infections; Thrombocytopenia: easy bruising, petechiae.
What are other features of ALL?
Bone pain, splenomegaly, hepatomegaly, fever (present in up to 50% of new cases), testicular swelling.
What are the types of ALL?
Common ALL (75%), T-cell ALL (20%), B-cell ALL (5%).
What are the poor prognostic factors for ALL?
Age < 2 years or > 10 years; WBC > 20 * 10^9/l at diagnosis; T or B cell surface markers; non-Caucasian; male sex.
What is acute myeloid leukaemia?
Acute myeloid leukaemia is the more common form of acute leukaemia in adults. It may occur as a primary disease or following a secondary transformation of a myeloproliferative disorder.
What are the features of acute myeloid leukaemia?
Features are largely related to bone marrow failure: anaemia (pallor, lethargy, weakness), neutropenia (frequent infections), thrombocytopenia (bleeding), splenomegaly, and bone pain.
What are poor prognostic features of acute myeloid leukaemia?
> 60 years, > 20% blasts after first course of chemo, cytogenetics (deletions of chromosome 5 or 7).
What is acute promyelocytic leukaemia (M3)?
Acute promyelocytic leukaemia is associated with t(15;17) fusion of PML and RAR-alpha genes, presents younger than other types of AML (average = 25 years old), and often has DIC or thrombocytopenia at presentation.
What are the characteristics of acute promyelocytic leukaemia?
Auer rods are seen with myeloperoxidase stain, and it has a good prognosis.
What is the French-American-British (FAB) classification of acute myeloid leukaemia?
MO - undifferentiated, M1 - without maturation, M2 - with granulocytic maturation, M3 - acute promyelocytic, M4 - granulocytic and monocytic maturation, M5 - monocytic, M6 - erythroleukaemia, M7 - megakaryoblastic.
What is acute promyelocytic leukaemia (APML)?
APML is the M3 subtype of acute myeloid leukaemia (AML) and is important for its presentation and management.
What genetic translocation is associated with APML?
APML is associated with the t(15;17) translocation, causing fusion of the PML and RAR-alpha genes.
What is the average age of presentation for APML?
APML presents at a younger age than other types of AML, with an average of 25 years old.
What are common features at presentation for APML?
Common features include disseminated intravascular coagulation (DIC) or thrombocytopenia.
What is the prognosis for APML?
APML has a good prognosis.
How is APML treated?
APML is treated with all-trans retinoic acid (ATRA) to mature immature granulocytes and resolve a blast crisis before chemotherapy.
What are the complications of chronic lymphocytic leukaemia?
Anaemia, hypogammaglobulinaemia leading to recurrent infections, warm autoimmune haemolytic anaemia in 10-15% of patients, transformation to high-grade lymphoma (Richter’s transformation).
What is Richter’s transformation?
Richter’s transformation occurs when leukaemia cells enter the lymph node and change into a high-grade, fast-growing non-Hodgkin’s lymphoma. Patients often become unwell very suddenly.
What are the symptoms indicating Richter’s transformation?
Lymph node swelling, fever without infection, weight loss, night sweats, nausea, abdominal pain.
What is chronic lymphocytic leukaemia (CLL)?
CLL is caused by a monoclonal proliferation of well-differentiated lymphocytes, almost always B-cells (99%). It is the most common form of leukaemia seen in adults.
What are the common features of CLL?
Features often include none, but may be picked up by incidental finding of lymphocytosis, constitutional symptoms like anorexia and weight loss, bleeding, infections, and marked lymphadenopathy compared to chronic myeloid leukaemia.
What does a full blood count show in CLL?
It shows lymphocytosis, anaemia (which may occur due to bone marrow replacement or autoimmune hemolytic anaemia), and thrombocytopenia (which may occur due to bone marrow replacement or immune thrombocytopenia).
What is a characteristic finding in the blood film of CLL?
The blood film shows smudge cells (also known as smear cells).
What is the key investigation for CLL?
Immunophenotyping is the key investigation.
How can most cases of CLL be identified?
Most cases can be identified using a panel of antibodies specific for CD5, CD19, CD20, and CD23.
What is the Philadelphia chromosome?
The Philadelphia chromosome is present in more than 95% of patients with chronic myeloid leukaemia (CML).
It is due to a translocation between the long arm of chromosome 9 and 22 - t(9:22)(q34; q11).
What genes are involved in the Philadelphia chromosome?
It results in part of the ABL proto-oncogene from chromosome 9 being fused with the BCR gene from chromosome 22.
What does the BCR-ABL gene code for?
The BCR-ABL gene codes for a fusion protein that has tyrosine kinase activity in excess of normal.
What are common presentations of chronic myeloid leukaemia?
Common presentations include anaemia, lethargy, weight loss, sweating, and marked splenomegaly leading to abdominal discomfort.
What laboratory findings are associated with chronic myeloid leukaemia?
An increase in granulocytes at different stages of maturation, possible thrombocytosis, and decreased leukocyte alkaline phosphatase.
What is the risk of blast transformation in chronic myeloid leukaemia?
May undergo blast transformation with 80% progressing to AML and 20% to ALL.
What is the first-line treatment for chronic myeloid leukaemia?
Imatinib is now considered first-line treatment.
It is an inhibitor of the tyrosine kinase associated with the BCR-ABL defect.
What are other treatment options for chronic myeloid leukaemia?
Other treatment options include hydroxyurea, interferon-alpha, and allogenic bone marrow transplant.
