Chromosomally Abnormal Clones and Nonrandom Telomeric Translocations in Cardiac Myxomas

Dewald, Gordon W.; Dahl, Richard J.; Spurbeck, Jack L.; Carney, J. Aidan; Gordon, Hymie

doi:10.1016/s0025-6196(12)62293-9

Cited by 83 publications

(38 citation statements)

References 24 publications

Supporting

Mentioning

Contrasting

Unclassified

Order By: Relevance

“…At the chromosomal level, translocations arising through tandem fusions of telomeres were first observed in leukemic B cells (9). Subsequently, telomeric fusions have been reported in a pre-T cell acute lymphoblastic leukemia ( 10) and in some solid tumors, including histiocytoma (28), cardiac myxoma (29), and renal tumors (30). All these studies have suggested that abnormalities of the ends of chromosomes are present in some tumors.…”

Section: Discussionmentioning

confidence: 99%

Telomeric DNA in normal and leukemic blood cells.

Yamada¹,

Oshimi²,

Motoji³

et al. 1995

J. Clin. Invest.

View full text Add to dashboard Cite

We studied telomeric DNA in leukemic cells as well as in normal T cells, B cells, monocytes, polymorphonuclear leukocytes, and bone marrow hematopoietic progenitor cells. No marked differences were observed in the sizes of the telomeric repeats in the various populations of normal blood cells obtained from donors in their twenties to sixties, and the telomere length ranged between 8.5 and 9.0 kb. The leukemic cells of 12 patients with acute leukemia (seven with myeloid and five with lymphoid leukemia) showed a variable reduction in the length of telomeric DNA, ranging from 2.7 to 6.4 kb. The average telomere length was 4.8 and 4.7 kb in myeloid and lymphoid leukemia, respectively, while the telomere length in peripheral blood mononuclear cells obtained from the same patients during complete remission was 8.5 and 7.9 kb, respectively. When the same Southern blots were hybridized with Alu or alphoid sequences, no marked changes in the sizes of the repetitive DNA sequences were observed, indicating that the DNA abnormality in the leukemic cells was specific to the telomere region. Investigation of telomeric DNA changes may be helpful in determining the biological properties of leukemic cells.

show abstract

Section: Discussionmentioning

confidence: 99%

Telomeric DNA in normal and leukemic blood cells.

Yamada¹,

Oshimi²,

Motoji³

et al. 1995

J. Clin. Invest.

View full text Add to dashboard Cite

show abstract

“…We performed linkage analysis using highly polymorphic markers from areas of the human genome likely to be involved. These were the chromosomal loci associated with cytogenetic aberrations of atrial myxomas excised from patients with the complex (40)(41)(42), those of the propiomelanocortin (POMC) gene, corticotropin-and melanotropin-receptor genes, as well as of several components of the guanine-nucleotide binding protein (G-protein) pathway, which mediates corticotropic and melanotropic actions (43)(44)(45)(46).…”

Section: Introductionmentioning

confidence: 99%

Carney complex, a familial multiple neoplasia and lentiginosis syndrome. Analysis of 11 kindreds and linkage to the short arm of chromosome 2.

Stratakis

Carney²,

Lin³

et al. 1996

J. Clin. Invest.

431

217

View full text Add to dashboard Cite

Carney complex is an autosomal dominant syndrome characterized by multiple neoplasias, including myxomas at various sites and endocrine tumors, and lentiginosis. The genetic defect(s) responsible for the complex remain(s) unknown. We studied 101 subjects, including 51 affected members, from 11 North American kindreds with Carney complex. Blood samples were collected from patients and their family members. Hospital records, photographs, and tissue specimens of deceased individuals were reviewed. DNA was extracted from blood samples, patient-derived cell lines, and/ or paraffin-embedded tissues. Linkage analysis was performed with highly polymorphic microsatellite markers, distributed over areas of the human genome harboring the most likely candidate genes. The most prevalent clinical manifestation in patients with Carney complex was spotty skin pigmentation, similar to that observed in Peutz-Jeghers and other lentiginosis syndromes. Skin and cardiac myxomas, Cushing syndrome, and acromegaly were present in 62, 30, 31, and 8 percent of the patients, respectively. Linkage was obtained for three markers on the short arm of chromosome 2 (2p16), with a maximum two-point lod score of 5.97 at ϭ 0.03 for the marker CA-2 (odds in favor of linkage 10 6 :1). The flanking markers CA7 and D2S378 defined a region of ‫ف‬ 6.4 cM that is likely to contain the gene(s) associated with Carney complex. Candidate genes in the proximity, including the propiomelanocortin and the DNA-mismatch repair hMSH2 genes, were excluded. We conclude that the genetic defect(s) responsible for Carney complex map(s) to the short arm of chromosome 2 (2p16). This region has exhibited cytogenetic aberrations in atrial myxomas associated with the complex, and has been characterized by microsatellite instability in human neoplasias.

show abstract

“…Indeed, the formation of telomeric associations and dicentric chromosomes is a frequent feature of fibroblasts derived from the myxoid tumors excised from patients with Carney complex (91)(92)(93). Also, a recent study found similar features in cultured in vitro adrenocortical cells derived from PPNAD nodules (94).…”

Section: Carney Complexmentioning

confidence: 83%

Genetics of Carney complex and related familial lentiginoses, and other multiple tumor syndromes

Stratakis

2000

Front Biosci

View full text Add to dashboard Cite

Chromosomally Abnormal Clones and Nonrandom Telomeric Translocations in Cardiac Myxomas

Cited by 83 publications

References 24 publications

Telomeric DNA in normal and leukemic blood cells.

Telomeric DNA in normal and leukemic blood cells.

Carney complex, a familial multiple neoplasia and lentiginosis syndrome. Analysis of 11 kindreds and linkage to the short arm of chromosome 2.

Genetics of Carney complex and related familial lentiginoses, and other multiple tumor syndromes

Contact Info

Product

Resources

About