Chronic myelogenous leukemia with a complex Ph1 translocation in an XYY male.

Department of Internal Medicine, Tokyo Medical College, Tokyo, Japan; Department of Cytogenetics, Medical Research Institute, Tokyo Medical and Dental University, Tokyo, Japan.
Cancer Genetics and Cytogenetics (Impact Factor: 1.93). 03/1984; 11(2):215-9. DOI: 10.1016/0165-4608(84)90115-8
Source: PubMed

ABSTRACT We encountered a 38-year-old Japanese male patient with chronic myelogenous leukemia (CML), whose bone marrow and peripheral blood cells during the chronic and blastic phases contained a complex Ph1 translocation and an extra Y chromosome [i.e., 47,XYY,t(9;22;13)(q34;q11;q14)]. A karyotypic analysis of PHA-stimulated lymphocytes showed the constitutional karyotype to be 47,XYY. Thus, it was considered that CML with a complex Ph1 translocation developed in an XYY male; such a case has not been reported, so far. A B-lymphocyte cell line with the complex Ph1 translocation was established by the procedure of Epstein-Barr virus transformation. The presence of the complex Ph1 translocation in the B-lymphocyte cell line suggests that some of the B lymphocytes in this patient originated from the CML clone.

  • [Show abstract] [Hide abstract]
    ABSTRACT: A predisposition to tumor development is associated with some constitutional chromosomal abnormalities. Investigations of families with an apparent hereditary cancer and constitutional chromosome rearrangements have led to the molecular identification of tumor suppressor genes. Under the somatic mutation theory for the development of cancer, two mutational events are required. The first step may be a constitutional event and the second an acquired genetic mutation. Cytogenetic studies were performed on 5633 bone marrow specimens from patients with hematologic malignancies from a single institution. Fifty cases of constitutional chromosome aberrations were detected. Data collected from the literature and from our series are reviewed and compared with the incidence of specific constitutional chromosome aberrations in the newborn population. Possible mechanisms that may predispose individuals with constitutional chromosome aberrations to the development of a hematologic malignancy are reviewed.
    Cancer Genetics and Cytogenetics 04/2004; 149(2):137-53. · 1.93 Impact Factor
  • [Show abstract] [Hide abstract]
    ABSTRACT: A case of acute lymphoblastic leukemia (ALL) in a 16-year-old male with a 47,XYY karyotype is reported. This chromosome aneuploidy was found in both bone marrow (BM) cells and mitogen-stimulated lymphocytes. Immunologic profile of leukemic cells showed a null phenotype. To our knowledge, this is the fifth case reported in the literature.
    Cancer Genetics and Cytogenetics 11/1990; 49(2):225-7. · 1.93 Impact Factor
  • [Show abstract] [Hide abstract]
    ABSTRACT: A 32-year-old patient was diagnosed with a gastrointestinal stromal tumor of the small bowel. The pathologic diagnosis was confirmed by positive immunochemistry against CD34, and against CD117, the tyrosine-kinase c-kit. We performed a karyotypic analysis on the basis of the patient's tall stature and speech difficulties. One hundred thirty-two metaphases were obtained on PHA-stimulated peripheral blood; 123 of them presented an extra chromosome Y. Fluorescence in situ hybridization using a Y satellite III probe showed the presence of a sole copy of chromosome Y in the tumor cells precluding a direct relationship between the extra chromosome Y and the initiation of the tumor. This is, to our knowledge, the second occurrence of a nonhematologic malignancy reported in this genetic disorder. A review of the malignancies observed in men with the XYY constitution is presented.
    Cancer Genetics and Cytogenetics 04/2002; 133(2):152-5. · 1.93 Impact Factor