Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0032463 (polycythemia vera)
3,374 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Chromosome 1 is known to often be involved in various malignant diseases. Its numerical and structural aberrations have been observed in chronic and acute leukemias and solid tumors as well. Recently five protooncogenes have been assigned to the long and short arms of chromosome 1. The frequent and nonspecific occurrence of chromosome 1 rearrangements in human tumors suggests that they play an important role in the pathogenesis and progression of these diseases. The frequency, types, and time of the occurrence of chromosome 1 aberrations and their relation to the stage of the disease were studied in 317 patients with various malignant diseases. In ten patients nonrandom aberrations of chromosome 1 were observed. Two patients had CML, two PRV followed by ANLL, and the remaining six patients suffered from ANLL, ALL, Burkitt lymphoma, MF, SMMoL, and IRSA, respectively. In six patients, total or partial trisomy of the long arm or of the whole chromosome 1 was present, and in three cases balanced translocations involving chromosome 1 could be found. In the cells of one patient a duplication of the centromeric heterochromatin was seen. We analyzed the breakpoints involved. Finally, the aberrations of chromosome 1 were almost always be observed at the terminal stage of the diseases.
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PMID:Abnormalities of chromosome 1 in relation to human malignant diseases. 259 63

Cases with a simple gain or loss of one chromosome as the sole cytogenetic change were retrieved from a computerized registry of chromosome aberrations in human neoplasms. Of the total of 5345 cases in the data bank, 610 met the criteria. The distribution of both simple gains (349 cases) and simple losses (261 cases) throughout the genome was distinctly nonrandom. Chromosomes #8, #9, #12, and #21 were more often trisomic, whereas, chromosomes #7, #22, and Y were the ones most often lost. The frequency of simple aberrations varied widely in different diseases: 29.6% in chronic lymphocytic leukemia, 24.2% in meningioma, 16.9% in polycythemia vera, 8.1% in acute nonlymphocytic leukemia, 4.2% in acute lymphocytic leukemia, and 1.4% in non-Hodgkin non-Burkitt lymphoma. The numerical changes have been correlated and compared with the specific structural rearrangements in cancer, and tentative pathogenetic mechanisms whereby numerical aberrations might enhance neoplastic development are discussed.
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PMID:Numerical chromosome aberrations in human neoplasia. 370 52