Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0023418 (leukemia)
 93,477 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

We report two children with acute lymphoblastic leukemia (ALL) who in initial cytogenetic investigation were coincidently found to have a 47, XXY karyotype. In one patient 100% of peripheral blood lymphocytes showed a 47,XXY complement, but in the other only 30% of cells had such a complement, the remainder having a normal male karyotype (46, XY). In neither case was the diagnosis of Klinefelter's syndrome clinically obvious. Antileukemic therapy may exacerbate both the hypogonadism and the learning difficulties seen in this condition. Routine cytogenetic investigations on peripheral blood and bone marrow should be performed in all new cases of leukemia. Cytogenetic analysis of cultured fibroblasts is essential in all cases in which the abnormal X line did not disappear after initial therapy. Evidence of an increased risk of leukemia in association with Klinefelter's is beginning to accumulate.
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PMID:Acute lymphoblastic leukemia and Klinefelter's syndrome. 820 50

A 7-month-old infant with Klinefelter's syndrome was diagnosed as having acute monoblastic leukemia (AMoL). Chromosome studies of bone marrow at diagnosis showed the karyotype 46,XXY,-Y,t(10;11)(p13;q14). This is the first report of M5A leukemia associated with Klinefelter's syndrome.
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PMID:Acute monoblastic leukemia of infancy in Klinefelter's syndrome. 163 88

We report a case of adenocarcinoma of the prostate in a 41-year-old man with 47XXY karyotype (Klinefelter's syndrome) and chronic lymphocytic leukemia. The increased incidence of malignancy in individuals with Klinefelter's syndrome has been well documented for certain neoplasms. Adenocarcinoma of the prostate has not been reported previously in a patient with Klinefelter's syndrome and a 47XXY karyotype. Absence of mosaicism was confirmed by peripheral lymphocyte, skin fibroblast, bone marrow cell and spleen stroma fibroblast cultures. Chronic lymphocyte leukemia, especially the T-cell cytotoxic/suppressive variant, may additionally add to an immunological deficit. Since carcinoma of the prostate, Klinefelter's syndrome and chronic lymphocytic leukemia are common, the lack of a previous report is interesting. Etiological aspects are discussed.
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PMID:Adenocarcinoma of the prostate in a 41-year-old man with XXY karyotype and chronic lymphocytic leukemia: report of a case. 198 78

Most acute leukemias occurring in patients with mediastinal germ cell tumors (MGCTs) appear to be primary rather than therapy-related; however, no data have been obtained to date to confirm the hypothesized germ cell origin of the leukemias in this syndrome. We identified six male patients with this syndrome treated at Memorial Sloan-Kettering Cancer Center: in all six, the leukemia was studied immunohistochemically for various hematologic and germ cell antigens; in four, the karyotype of the leukemia was available; in one, the MGCT had also been karyotyped. In three patients, we found evidence of a germ cell origin of the acute leukemias. A 19-year-old male developed an acute myeloblastic leukemia 11 months after presenting with an MGCT; karyotypes of the two tumors showed them to be clonally related, both showing an i(12p), a cytogenetic marker of germ cell tumors. A 16-year-old male with probable Klinefelter's syndrome presented simultaneously with acute monocytic leukemia and an MGCT; although the MGCT was not karyotyped, the leukemia showed an i(12p). A 23-year-old male developed concurrently an MGCT and acute myelomonocytic leukemia; the leukemia cells coexpressed myelomonocytic antigens (HAM56, My4, My9) and cytokeratin, suggesting dual differentiation, myeloid and germ cell. Evidence for a germ cell origin of the acute leukemias in the three other patients was not obtained, although in all three the MGCT and the leukemia occurred simultaneously, supporting an etiologic relationship. Hence, these leukemias may represent another form of non-germ cell malignancy developing in germ cell tumors. All patients died of the leukemia, with a median survival of less than 2 months. This syndrome may be a useful pathologic model for the study of germ cell differentiation and hematopoietic ontogeny.
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PMID:Cytogenetic and immunohistochemical evidence for the germ cell origin of a subset of acute leukemias associated with mediastinal germ cell tumors. 215 16

A case of Klinefelter's syndrome with the development of a mediastinal teratocarcinoma is reported suggesting that the association of a gonadotropin-secreting tumor with the XXY chromosomal abnormality may be more than coincidental. Whereas this child appeared to survive the effects of the teratocarcinoma, he succumbed to acute leukemia two years later. This prompted a review of secondary leukemias in children following chemotherapy/radiotherapy for another primary malignancy. These patients responded poorly to treatment of the secondary leukemia with a median survival of about four months. The incidence of secondary leukemias might be expected to be on the rise as increasing numbers of pediatric cancer patients are surviving longer after treatment with agents that are potentially leukemogenic or carcinogenic themselves. Children who have survived cancer and its therapy present special problems and it will be necessary for the pediatrician and practitioner to monitor these children.
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PMID:Acute leukemia following a malignant teratoma in a child with Klinefelter's syndrome: case report and review of secondary leukemias in children following treatment of a primary neoplasm. 617 94

Some specific chromosomal abnormalities are associated with certain cancers. The earliest description of such a specific association is the one of the Philadelphia chromosome and myelogenous leukemia (1960). Other congenital karyotype abnormalities are associated with specific cancers. Examples of these are Down's syndrome with leukemia and Klinefelter's syndrome with male breast cancer. Genetic diseases of increased chromosome breakage, or of defective chromosome repair, are associated with greatly increased cancer incidence. Three such diseases have been recognized: 1) Fanconi's anemia, associated with leukemias and lymphomas, 2) Bloom's syndrome, associated with acute leukemias and lymphosarcoma, and 3) ataxia telangiectasia, associated with Hodgkin's disease, leukemia, and lymphosarcomas. Ten percent of individuals with ataxia telangiectasia will develop one of these neoplasms. Individuals with certain of these syndromes display an unusually high radiosensitivity. Radiation therapy for cancers has been fatal in patients who received as low as 3000 rad. This remarkable radiosensitivity has been quantitated in cell cultures from such cases. Evidence suggests that the apparent sensitivity may reflect subnormal ability to repair radiation damage. The rapid proliferation of information in this field stems from the interdigitation of many disciplines and specialties, including cytogenetics, cell biology, molecular biology, epidemiology, radiobiology, and several others. This paper is intended for clinicians; it presents a structured analytic scheme for correlating and classifying this multidisciplinary information as it becomes available.
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PMID:Chromosomes, cancer and radiosensitivity. 686 20

Patients with a 47, XXY karyotype (Klinefelter syndrome) appear to have an increased risk of developing a malignancy in adulthood, usually cancer of the breast, extragonadal germ cell tumor, and acute nonlymphoblastic leukemia. There is growing evidence to show that these patients also have an increased risk of developing a malignancy in childhood. There are reports describing the development of acute lymphoblastic leukemia, retinoblastoma, and rhabdomyosarcoma in children with a 47, XXY or mosaic 47, XXY/46, XY karyotype. We report a child with a bone metastasizing, B-cell lineage, non-Hodgkin's lymphoma (NHL) who was found to have a 47, XXY karyotype in both the tumor and constitutional cells.
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PMID:Non-Hodgkin's lymphoma and Klinefelter syndrome. 820 45

Primary mediastinal non-seminomatous germ-cell tumors (PMNSGCTs) are rare neoplasms that occur in young male adults. Incidence is evaluated about half that of extra-gonadal GCT. Their treatment is generally based on protocols used for testicular cancer, but with poorer results. Based on our experience of 40 patients with PMNSGCTs and data from the literature, we review here the clinical and biological data of these neoplasms. PMNSGCTs seem to constitute a specific entity, distinct from other GCT by the following criteria: true extra-gonadal origin, high incidence in patients with the Klinefelter's syndrome, over-representation of the yolk-sac component, poorer chemosensitivity and survival compared to other GCT, frequent occurrence of non-treatment related hematological neoplasia. The finding of an isochromosome of the short arm of the chromosome 12 in the leukemic karyotype is one of the strongest argument for a common origin in the yolk-sac component of the PMNSGCTs and their associated leukemia. Treatment of PMNSGCTs is still a challenge and should be conducted by a well-trained medical team.
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PMID:[Primary mediastinal non-seminomatous germ-cell tumors: from clinics to biology]. 920 79

Klinefelter syndrome was first described in 1942 as an endocrine disorder characterized by gynecomastia, hypogonadism, small testes, and elevated levels of follicle-stimulating hormone. An extra X chromosome (i.e., 47,XXY) was subsequently demonstrated in these patients and an increased incidence of leukemia and lymphoma has been described. We report a retrospective study of a series of unselected patients with Klinefelter syndrome diagnosed by cytogenetic studies and the occurrence of hematologic malignancies. The literature is also reviewed.
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PMID:Hematologic malignancies and Klinefelter syndrome. a chance association? 1254 50

Children with cerebral palsy (CP) often have poor linear growth during childhood, resulting in a diminished final adult height. Here we report a female with CP and short stature but without growth hormone (GH) deficiency who exhibited increased growth during treatment with GH. We also report two other children with CP who were treated with GH: one female with a history of leukemia, and a male with Klinefelter syndrome. These two children were both found to be GH-deficient by insulin provocative GH testing and responded to treatment with increased growth rate. Growth improved to a greater extent in the two children with apparent GH deficiency. In summary, it is felt that GH therapy might be beneficial for children with CP and warrants further investigation.
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PMID:Is treatment with growth hormone effective in children with cerebral palsy? 1528 49


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