Cases reported "Pelger-Huet Anomaly"

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1/2. Normal bone marrow function over 6 years in a patient with dysplastic hematopoiesis and a complex karyotype.

    Myelodysplasia associated with a complex karyotype is usually associated with advanced stage myelodysplastic syndrome (MDS) and an enhanced risk to develop secondary leukemia. We report on a 36-year-old female patient who was first presented in 1997 because of 'Pseudo Pelger-Huet' neutrophils. The remaining blood and differential counts were normal. bone marrow examination revealed dysplasia in the erythroid and granulocytic series, no increase in blasts, and a karyotype with complex aberrations involving chromosomes 7, 13, 20 and 22. Almost all metaphases examined appeared to be affected. During the next few months, the patient was closely monitored and considered as candidate for bone marrow transplantation. However, blood counts remained stable without occurrence of significant cytopenias or an increase in blasts. Re-examinations of the bone marrow in 1998 and 1999 disclosed identical results compared to that obtained in 1997. After a total follow up of 6 years, the patient is still in good health with normal blood counts and persisting 'Pseudo Pelger-Huet' neutrophils. This exceptional case supports the notion that complex chromosomes are not invariably associated with rapid disease evolution in MDS.
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2/2. Cytogenetic and functional studies of leukocytes with pelger-huet anomaly.

    A cytogenetic study was undertaken in 15 cases of Pelger-Huet (P-H) anomaly in 3 families. An enlarged short arm of chromosome 22 (22p ) was found in 14 cases, but in these families 4 cases without P-H anomaly did not show 22p in the karyotype. In P-H anomaly, delayed skin hypersensitivity reactions, levels of serum IgG, IgM and IgA, lymphocyte subpopulations, and natural killer and antibody-dependent, cell-mediated cytotoxicity activities were within normal range. The level of serum IgE, mitogen responses in peripheral blood lymphocyte and plaque-forming cell counts were also within normal range with the exception of a case with atopic eczema. Enzymatic activities, nitroblue tetrazolium reduction and phagocytic capacities of neutrophils appeared normal. Abnormalities of neutrophils in cases of P-H anomaly, as compared with normal subjects, were also negative in examinations for chemotaxis and spontaneous migration under agarose and in a membrane filter.
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