Mastocytosis
Mastocytosis is characterised by mast cell proliferation and accumulation within various organs, most commonly the skin. It is associated with mutations in KIT (a transmembrane tyrosine kinase receptor for SCF)
Essential Thrombocythaemia
Essential thrombocythaemia is characterised by an increase in the number of circulating platelets, due to the mutations JAK2, CARL, or MPL (90%), which cause sustained proliferation of megakaryocytes. Patients have a persistently elevated platelet count (>450,000/uL) and splenomegaly, and frequently…
Primary Myelofibrosis
Primary myelofibrosis is characterised by the replacement of bone marrow by fibrous tissue. There are abnormal proliferating megakaryocytes and granulocytes that produce cytokines that stimulate fibrosis. The typical presentation is a patient with anaemia, teardrop RBCs, leukoerythroblastosis, and hepatosplenomegaly. No…
Polycythemia
Polycythemia is a laboratory finding characterised by an increased number of RBCs and an accompanying elevation in haematocrit and haemoglobin concentration in the peripheral blood. It is commonly an incidental finding. Definition of terms Term Definition Relative polycythemia An isolated…
Atypical Chronic Myeloid Leukaemia (aCML)
Atypical chronic myeloid leukaemia is characterised by myelodysplasia and myeloproliferation at the outset. However, it does not meet the criteria for bcr-abl+ CML or other MPNs. It affects men more than women, and the median age of diagnosis is 70…
Leukemoid Reactions
A leukemoid reaction is the presence of an elevated leucocyte count of >50 x 10^9/L in a reactive condition outside the bone marrow. Leukemoid reaction vs Chronic myeloid leukaemia Leukemoid reaction Chronic myeloid leukaemia PBF leukocytes Left shift: mature neutrophils,…
Chronic Myeloid Leukaemia (CML)
Chronic myeloid leukaemia is characterised by a single genetic translocation (bcr-abl) in a pluripotent stem cell. It is characterised by increased proliferation of differentiating granulocytic cells. The peripheral blood shows an increased number of granulocytes and occasional blasts. 90-95% of…
Plasma Cell Lymphomas
Plasma cell lymphomas can be morphologically classified into solitary, multiple myeloma, or plasmablastic lymphomas. They commonly present as lytic bone lesions of the skull, ribs, pelvis, and spine
Burkitt Lymphoma
Burkitt Lymphoma was first described in 1958 at Mulago Hospital in Uganda. It is characterised by Burkitt cells, which have a very high proliferative rate (more than 90% Ki67 proliferative index and a 24-hour cell turnover rate), and c-MYC gene…