Chromosome studies in untreated polycythaemia vera. 1976

J Westin, and J Wahlström, and B Swolin

Bone marrow chromosomes were studied in a series of 50 consecutive, unselected cases of untreated polycythaemia vera (PV). A pathological cell line was present in 7 patients (= 14%). 3 patients each had 1 extra chromosome no. 8 and 1 extra no. 9. 2 patients had a similar but not identical marker chromosome including material from the long arms of chromosome no. 1. 1 of these patients also had a 20q- deletion. 1 patient had an extra unidentified isochromosome. 1 patient had a monosomy 16. In 5 cases the abnormal clone dominated over cells with normal karyotype. In each of 6 patients a singular hyperdiploid cell was observed. 1 or several polyploid or randomly hypodiploid cells were found in most patients. The findings in our material are compared to other reports of chromosome studies in PV and allied disorders. Except for the 20q- deletion no abnormality typical for PV has so far been detected, but some chromosomes seem to be involved more often than others (1, 8, 9, 20). Patients with chromosome aberrations did not show any clinical, laboratory or morphologic features which could separate them from cases with normal karyotypes. The prognostic significance of the chromosome abnormalities encountered in early PV cannot be defined at present.

UI MeSH Term Description Entries
D008297 Male Males
D008875 Middle Aged An adult aged 45 - 64 years. Middle Age
D008940 Mitotic Index An expression of the number of mitoses found in a stated number of cells. Index, Mitotic,Indices, Mitotic,Mitotic Indices
D011087 Polycythemia Vera A myeloproliferative disorder of unknown etiology, characterized by abnormal proliferation of all hematopoietic bone marrow elements and an absolute increase in red cell mass and total blood volume, associated frequently with splenomegaly, leukocytosis, and thrombocythemia. Hematopoiesis is also reactive in extramedullary sites (liver and spleen). In time myelofibrosis occurs. Erythremia,Osler-Vaquez Disease,Polycythemia Rubra Vera,Polycythemia Ruba Vera,Primary Polycythemia,Disease, Osler-Vaquez,Erythremias,Osler Vaquez Disease,Polycythemia Ruba Veras,Polycythemia Rubra Veras,Polycythemia, Primary,Polycythemias, Primary,Primary Polycythemias,Ruba Vera, Polycythemia,Ruba Veras, Polycythemia,Vera, Polycythemia Ruba,Vera, Polycythemia Rubra,Veras, Polycythemia Ruba,Veras, Polycythemia Rubra
D001853 Bone Marrow The soft tissue filling the cavities of bones. Bone marrow exists in two types, yellow and red. Yellow marrow is found in the large cavities of large bones and consists mostly of fat cells and a few primitive blood cells. Red marrow is a hematopoietic tissue and is the site of production of erythrocytes and granular leukocytes. Bone marrow is made up of a framework of connective tissue containing branching fibers with the frame being filled with marrow cells. Marrow,Red Marrow,Yellow Marrow,Marrow, Bone,Marrow, Red,Marrow, Yellow
D001854 Bone Marrow Cells Cells contained in the bone marrow including fat cells (see ADIPOCYTES); STROMAL CELLS; MEGAKARYOCYTES; and the immediate precursors of most blood cells. Bone Marrow Cell,Cell, Bone Marrow,Cells, Bone Marrow,Marrow Cell, Bone,Marrow Cells, Bone
D002460 Cell Line Established cell cultures that have the potential to propagate indefinitely. Cell Lines,Line, Cell,Lines, Cell
D002869 Chromosome Aberrations Abnormal number or structure of chromosomes. Chromosome aberrations may result in CHROMOSOME DISORDERS. Autosome Abnormalities,Cytogenetic Aberrations,Abnormalities, Autosome,Abnormalities, Chromosomal,Abnormalities, Chromosome,Chromosomal Aberrations,Chromosome Abnormalities,Cytogenetic Abnormalities,Aberration, Chromosomal,Aberration, Chromosome,Aberration, Cytogenetic,Aberrations, Chromosomal,Aberrations, Chromosome,Aberrations, Cytogenetic,Abnormalities, Cytogenetic,Abnormality, Autosome,Abnormality, Chromosomal,Abnormality, Chromosome,Abnormality, Cytogenetic,Autosome Abnormality,Chromosomal Aberration,Chromosomal Abnormalities,Chromosomal Abnormality,Chromosome Aberration,Chromosome Abnormality,Cytogenetic Aberration,Cytogenetic Abnormality
D002872 Chromosome Deletion Actual loss of portion of a chromosome. Monosomy, Partial,Partial Monosomy,Deletion, Chromosome,Deletions, Chromosome,Monosomies, Partial,Partial Monosomies
D002903 Chromosomes, Human, 19-20 The short, metacentric human chromosomes, called group F in the human chromosome classification. This group consists of chromosome pairs 19 and 20. Chromosomes F,Group F Chromosomes,Chromosome, Group F,Chromosomes, Group F,Group F Chromosome

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