Leukemias and Related Hematologic Disorders

Comprehensive vocabulary flashcards covering various types of leukemia, gammopathies, autoimmune diseases, and lipid storage disorders based on the lecture transcript.

Acute monoblastic leukemia (FAB M5a)

A subtype of AML characterized by at least 80% of cells being monoblasts; it most commonly occurs in children and young adults with a median age of 16 years.

Acute monocytic leukemia (FAB M5b)

A subtype of AML where most abnormal monocytic cells are at a more advanced stage of development; it has a peak occurrence during middle age with a median age of 49 years.

Gingival infiltration

A common clinical sign of extramedullary involvement in Acute monocytic leukemia, characterized by swollen gums.

Nonspecific esterase (NSE)

A cytochemical test that usually yields positive results in Acute monoblastic and monocytic leukemias (AML-M5), helping to distinguish them from other leukemias.

Acute Lymphoblastic Leukemia (ALL)

A type of cancer affecting lymphoid progenitor cells that is the most common leukemia in children, with peak incidence between 2 and 10 years old.

Philadelphia chromosome

A reciprocal translocation between chromosome 9 and chromosome 22, documented as $t(9;22)$, which creates the abnormal BCR-ABL1 fusion gene.

L1 (FAB Classification)

A morphology of ALL historically linked to the best prognosis and response to treatment, especially in children.

L3 (FAB Classification)

A morphology of ALL associated with the poorest prognosis and poor response to chemotherapy.

Chronic Myeloid Leukemia (CML)

A myeloproliferative neoplasm (MPN) arising from a genetic translocation in a pluripotential HSC, characterized by the presence of the Philadelphia chromosome and BCR-ABL1 protein.

Leukocyte Alkaline Phosphatase (LAP)

A procedure used to differentiate CML from a leukemoid reaction; results show a decreased score ($<13$) in CML and an increased score in leukemoid reactions.

Chronic phase CML

The initial phase of CML where blasts make up approximately 10% to 15% of cells in the blood or bone marrow.

Accelerated phase CML

A phase of CML where blasts make up 15% to 30% of cells and increased basophil levels become more prominent.

Blast crisis (Blast phase CML)

A life-threatening phase of CML where blasts make up 30% or more of cells, making it clinically indistinguishable from acute leukemia.

Imatinib

A tyrosine kinase inhibitor that acts as a selective inhibitor of the BCR-ABL protein and is the recommended treatment for newly diagnosed CML patients.

Chronic Myelomonocytic Leukemia (CMML)

A clonal hematopoietic stem cell disorder classified under the MDS/MPN overlap category, requiring persistent monocytosis greater than $1 \times 10^9/L$ for diagnosis.

Chronic Lymphocytic Leukemia (CLL)

A slow-growing cancer characterized by the accumulation of mature-appearing but functionally incompetent B lymphocytes; it is the most common adult leukemia in Western countries.

Smudge cells

Extremely fragile lymphocytes that rupture during the creation of a peripheral blood smear, serving as a hallmark of Chronic Lymphocytic Leukemia (CLL).

Matutes Score

A flow cytometry-based scoring system used to differentiate CLL from other B-cell lymphoproliferative disorders based on markers like CD19, CD23, and CD5.

Monoclonal Gammopathy

The overproduction of a single type of immunoglobulin by a single clone of plasma cells, appearing as a narrow "M spike" on serum protein electrophoresis.

Plasmacytic Myeloma (Multiple Myeloma)

A malignant condition originating in plasma cells that leads to tumors in multiple bones and follows the CRAB diagnostic criteria.

CRAB

A diagnostic mnemonic for Multiple Myeloma representing Hypercalcemia, Renal failure, Anemia, and Bone lesions.

Rouleaux formation

The arrangement of red blood cells resembling a stack of coins on a peripheral blood smear, often seen in Multiple Myeloma and Waldenstrom’s Macroglobulinemia.

Bence Jones Proteins

Abnormal proteins found in the urine of some Multiple Myeloma patients.

Waldenstrom’s Macroglobulinemia

A rare blood cancer characterized by large amounts of monoclonal immunoglobulin M (IgM) protein and often associated with the MYD88 gene mutation.

Hyperviscosity Syndrome

A clinical condition where blood thickens and flows poorly due to excess proteins, common in Waldenstrom’s Macroglobulinemia.

Franklin’s Disease

Also known as Gamma Heavy Chain Disease, it is a rare B-cell disorder characterized by the overproduction of incomplete monoclonal gamma heavy chains without light chains.

X-linked Agammaglobulinemia (XLA)

An inherited immunodeficiency caused by a mutation in the Bruton tyrosine kinase (BTK) gene, leading to a near absence of B-cells and antibodies.

Systemic Lupus Erythematosus (SLE)

An autoimmune disease characterized by the production of various autoantibodies and a signature "butterfly rash" on the skin.

LE cell

An intact neutrophil that has engulfed nuclear material coated with antinuclear antibody (LE body), historically used in the diagnosis of SLE.

Hodgkin’s Disease

A type of lymphoma characterized by the presence of large mononuclear Hodgkin cells and multinucleated Reed-Sternberg cells.

Reed-Sternberg cells

Large, abnormal multinucleated cells with prominent eosinophilic nucleoli resembling an "owl's eye," which are the diagnostic hallmark of Classical Hodgkin Lymphoma.

Infectious Mononucleosis (IM)

A contagious infection commonly caused by the Epstein-Barr Virus (EBV), appearing with atypical lymphocytes known as Downey Bodies.

Gaucher’s Disease

An autosomal recessive disorder caused by a deficiency of the enzyme b-glucocerebrosidase, leading to the accumulation of glucocerebroside in macrophages.

Gaucher cells

Macrophages that have an appearance of "crumpled" or "wrinkled tissue paper" due to lipid accumulation.

Niemann-Pick’s Disease

A group of lysosomal storage disorders caused by deficiency of sphingomyelinase (Types A and B) or impaired cholesterol transport (Type C).

Foam cells

Large, lipid-laden macrophages with a characteristic "foamy soap-suds" or mulberry appearance found in Niemann-Pick's Disease.