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Benign WBC changes
Terms in this set (25)
The Pelger-Huet anomaly is due to mutations in the laminin beta-receptor (LBR) gene that have been discovered in several kindreds. The gene maps to chromosome 1q41-q43.
What isolated cytogenetic change is most commonly seen accompanying dysplastic changes in MDS such as pseudo-Pelger-Huet anomaly?
Isolated isochromosome 17q
Myelokathexis, pyknotic chromatin lobes connected by a long strand of chromatin
Neutrophil precursors and especially mature neutrophils are retained in the bone marrow ( kathexis = retention), leading to hypercellularity and increased myeloid-to-erythroid (M:E) ratio.
Mutations in the chemokine receptor type-4 gene ( CXCR4 ; CD184 )
CXCR4 signaling plays a critical role in bone marrow cellular homing.
CXCR4 also plays a role in lymphocyte trafficking and B-cell development and affinity maturation.
Mutations in WHIM syndrome
Severe neutropenia. PMN precursors & mature PMNs retained in the bone marrow resulting in hypercellularity
an autosomal-dominant immunodeficiency disease
characterized by Warts, Hypogammaglobulinemia, Immunodeficiency, and Myelokathexis.
Increased susceptibility to human papillomavirus infection & increased upper respiratory infections.
WHIM syndrome is ? and characterized by ?
mutation in the CHS1 (LYST) gene located on chromosome 1q42.1-1q42.2.
Chédiak-Higashi syndrome. Abnormal endosomal-lysosomal fusion resulting in large, abnormal granules within granulocytes, monocytes, and lymphocytes
Alder-Reilly anomaly is ?
X-linked/AR mucopolysacchardosis with coarse, azurophilic granules in the cytoplasm. Predominantly in granulocytes, although also variably present in monocytes
The MYH9-related disorders
mutations in the gene encoding nonmuscle myosin heavy chain-9 (MYH9) located on ch 22q12.3-q13.2
May-Hegglin, Fechtner, Sebastian, and Epstein syndromes
Clinical characteristics of May-Hegglin anomaly
Triad of thrombocytopenia, giant platelets, and inclusion bodies in leukocytes. Most patients are asymptomatic, although some may have a mild bleeding tendency. Patients are discovered because of thrombocytopenia.
The characteristic white blood cell abnormality in May-Hegglin anomaly
the presence of large blue cytoplasmic inclusions that resemble Döhle bodies. The Döhle-like bodies are composed of paracrystalline arrays of ribosomes and RNA and are larger (2 to 4 μm) than true Döhle bodies.
Peripheral blood smear in May-Hegglin anomaly. Note the pale blue inclusion in the neutrophil and the large platelet, which are typical findings in May-Hegglin anomaly.
Clinical features of the 4 MYH9 anomalies
* Dohle-like bodies
* Hearing impairment
Composed of paracrystalline arrays of ribosomes and RNA.
Larger (2 to 4 µm) than true Döhle bodies. Seen in the absence of toxic granulation and are not limited to neutrophils. In May-Hegglin anomaly, the inclusions can be seen within all types of granulocytes (neutrophils, basophils, eosinophils) and monocytes.
Bone marrow changes associated with granulocyte colony-stimulating factor administration. The aspirate smear (A) may show extensive, heavy toxic granulation. In the core biopsy (B), there is an increase in immature myeloid elements, expanding away from the bone trabeculae into the intertrabecular space.
Neutrophils: "toxic" granulation, a left shift, an overall increase in granulocytes and precursors, a transient increase in circulating blasts, vacuolation, Döhle bodies, variable nuclear-cytoplasmic dyssynchrony, and abnormalities of nuclear segmentation.
The effects of G-CSF on peripheral blood
prominent granulation being especially frequent, and an increase in myeloid elements (increased M-to-E ratio). Other less common features include binucleate promyelocytes and myelocytes, giant myeloid precursors, and rarely the development of bone marrow fibrosis (typically mild). Granulocyte-macrophage colony-stimulating factor (GM-CSF) has similar changes to G-CSF, with the addition of significant monocytosis and eosinophilia.
The effects of G-CSF on bone marrow
A, A classic Gaucher cell, with pale blue, "folded tissue paper" cytoplasm. B, A Niemann-Pick cell with numerous cytoplasmic vacuoles filled with lipid.
seen most frequently in chronic myeloproliferative disorders, especially chronic myelogenous leukemia, and less commonly in other marrow neoplasms.
numerous Gaucher cells are present and other clinical features, such as hepatosplenomegaly, are present
True Gaucher disease
An autosomal-recessive inherited disorder
A lack of sphingomyelinase
Accumulation of the abnormal metabolic product in a variety of tissues.
The macrophages in this disorder are typically large with numerous small, uniform lipid-filled vacuoles
Macrophages with cytoplasm that appears blue or blue-green in a standard Wright stain.
Accumulation of ceroid, a metabolic product of cell membrane digestion.
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