Chromosomes in solid tumors and beyond.
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Chromosome Aberrations↗
Biomedical subjects
C Turc-Carel
Publications and source records attributed to C Turc-Carel.
Normal blood lymphocytes from patients with adipose tissue tumors with rearrangements at 12q13-q14 do not express the fragile site fra(12)(q13.1).
An association between chromosomal fragile sites and cancer-specific breakpoints has been found to be statistically significant. Cancer patients have been shown to be carriers of fragile sites in chromosome regions involved in rearrangements in malignant cells. Based on these observations it has been hypothesized that fragile sites may be involved in the pathogenesis of human tumors. We have recently described a new recurrent cancer breakpoint at chromosomal region 12q13-q14 in adipose tissue tumors. The possible involvement in these tumors of the rare folate-sensitive fragile site 12q13.1 has been investigated in PHA-stimulated peripheral blood cells from three patients carrying the t(12;16)(q13;p11) in their liposarcoma cells and one patient with the t(3;12)(q28;q14) in his lipoma cells. No expression of the fragile site 12q13.1 could be detected in the blood lymphocytes of any of the patients. The involvement of the fragile site 12q13.1 in the pathogenesis of adipose tissue tumors with a 12q13-q14 breakpoint remains to be established.
Chromosome Banding↗
Breakpoints in benign lipoma may be at 12q13 or 12q14.
Chromosomal investigations in two unrelated lipoma samples are reported. The breakpoint involving 12q in chromosomal rearrangements could be assigned to band 12q13 in one case and 12q14 in the other case. Evidence is provided that cytogenetically distinct breakpoints on 12q may be found in lipoma cells, resolving previous disagreements based on interpretational difficulties.
Chromosome Aberrations↗
Translocation (7;21) in a lipoma.
Cytogenetic analysis was performed on a solitary lipoma from the flank of a 38-year-old male. A translocation t(7;21)(p22;q11.2) was found as the sole clonal chromosomal abnormality. The results are discussed in relation to other cytogenetic abnormalities found in benign adipose tumors.
Adult↗
Recurrent breakpoints at 9q31 and 22q12.2 in extraskeletal myxoid chondrosarcoma.
A cytogenetic study of extraskeletal myxoid chondrosarcoma cells revealed a complex t(9;22;15)(q31;q12.2;q25) as a primary chromosome change. A reciprocal translocation involving identical breakpoints on chromosomes #9 and #22 in this tumor has been reported in the literature. We suggest that the breakpoints 9q31 and 22.q12.2 are associated with extraskeletal myxoid chondrosarcoma, a comparatively rare tumor of adulthood.
Aged↗
Consistent involvement of band 12q14 in two different translocations in three lipomas from the same patient.
We studied cytogenetically three distinct lipomas from a patient with multiple subcutaneous lipomas in the left shoulder area. A breakpoint at 12q14 was involved in structural rearrangements in the three lipomas resulting in two different reciprocal translocations, i.e., t(3;12)(q28;q14) in two and a t(1;12)(q34.2;q14) in the third. These results confirm the consistency of involvement of the breakpoint at 12q14 in lipomas and give support to the hypothesis that multiple lipomas evolve from different stem cells.
Chromosome Banding↗
Association of breakpoint 14q23 with uterine leiomyoma.
A chromosomal study of short-term cultured tumor cells from a benign uterine leiomyoma showed a clonal insertion, dir ins(14;6)(q23;p23p25) as a unique change. This finding supports the hypothesis of a specific association of the breakpoint 14q23 with uterine leiomyoma.
Chromosome Banding↗
Chromosomes in Ewing's sarcoma. I. An evaluation of 85 cases of remarkable consistency of t(11;22)(q24;q12).
Since our initial reports on chromosomal studies in eight Ewing's sarcomas (ES), we have carried out similar investigations on 23 additional ES specimens following short-term culture of tumor cells (16 cases), and established in vitro cell lines (three cases) and on xenografted tumors in nude mice (four cases). We demonstrated the presence of the reciprocal t(11;22)(q24;q12) in every case except one that exhibited a complex t(11;22;14)(q24;q12;q11). On the basis of results from these additional 23 cases, we confirm the consistency of the t(11;22)(q24;q12) in ES. Moreover, we reviewed 54 ES cases reported by other investigators; when added to our 31 cases, this brings the total number to 85 unrelated cases of ES available for an evaluation of the frequency of involvement of bands 11q24 and 22q12 in translocations in ES. The standard t(11;22)(q24;q12) proved to be a remarkably consistent event, present in 83% of the cases. Five percent of the cases exhibited complex translocations involving a third chromosome in addition to chromosomes #11 and #22. In 4% of the cases variant translocations involved 22q12 but with a chromosome(s) other than #11. The breakpoint on chromosome 22q12 appears to be the most consistently observed event in 92% of the cases, whereas, the breakpoint at chromosome 11q24 was observed in 88% of the cases.
Adolescent↗
Chromosomes in Ewing's sarcoma. II. Nonrandom additional changes, trisomy 8 and der(16)t(1;16).
Chromosomal data from 82 informative, unrelated Ewing's sarcoma (ES) specimens (including 20 personal specimens) were reviewed for secondary changes additional to the t(11;22)(q24;q12). Additional numerical and/or structural changes were found in 75 specimens. Trisomy 8 was observed consistently in half of the 43 cases selected for analysis of numerical changes. A nonrandom der(16) was observed as a result of an unbalanced t(1;16) in 18% of the 82 analyzed for structural changes. Consistent involvement of chromosome #16 in rearrangements with chromosome #1 may be an additional chromosome change specifically associated with ES.
Bone Neoplasms↗
Consistent breakpoints in region 14q22-q24 in uterine leiomyoma.
The chromosomes of nine consecutive human benign leiomyomas of the uterus were studied with banding methods following short-term culture. All of the tumors had a typical benign histology. Five exhibited clonal chromosome changes including three with consistent involvement of chromosomes 12 and 14 in a translocation, t(12;14)(q14-15;q23-q24), a direct insertion, dir ins(12;14)(p11.2;q22q24.1), and a direct insertion, dir ins(14;12)(q22-q23;q14-q15q23-q24.1). Thus, this study demonstrated the presence of consistent chromosome changes in another benign proliferation. Strikingly, the breakpoint observed at 12q14-q15 in two specimens is also involved nonrandomly in other benign proliferations such as mixed salivary gland tumors and lipomas. However, region 14q22-q24, which was involved in three specimens, may contain a DNA sequence critical for the genesis of uterine leiomyoma.
Chromosome Aberrations↗
[Immunocytologic study of light cell lines established in vitro from Ewing's sarcoma. Identification of neural markers].
Using immunocytological techniques, neuroectodermal markers were identified on Ewing's sarcoma cell lines established in vitro and carrying the chromosomal translocation t(11;22). Eight cell lines were tested using a panel of monoclonal antibodies. The presence of cell surface antigens recognized by HNK-1 antibody was confirmed. The cells showed also positive reactions using antibodies directed against Neuron-Specific-Enolase and neurofilament proteins. The presence of these neural markers in the Ewing's sarcoma cells tested is an additional argument substantiating the putative neural origin of this tumor.
Animals↗
Immunohistological characterization of a Ewing's sarcoma case.
The histogenesis of Ewing's sarcoma (ES) remains uncertain. Mesenchymal and neuroectodermal origins were the most recent hypotheses. In an attempt to test these two hypotheses, frozen sections of an ES with the chromosomal translocation t(11;22) have been studied using a panel of antibodies directed against monocytes/macrophages cell surface antigens (Leu M1, Leu M2, Leu M3, and MO1), and against neural components (NSE, S-100, T4, and HNK-1). None of these antigens were detected. Positive reactions were obtained with antibodies recognizing HLA II antigen and B2-microglobulin. From a panel of various intermediate filaments only vimentin was shown to be present. None of the two hypotheses could be supported by the results obtained from the immunohistological analysis of the tumor studied. In the absence of a specific immunological pattern, the chromosomal t(11;22)(q24;q12) marker remains the only diagnostic criterion of ES.
Antibodies, Monoclonal↗
[X maternal mosaicism and genetic counseling].
Among number of women having consulted for repeated miscarriages about sixty have a gonosomic mosaicism involving chromosome X for which abnormal clones (monosomy and/or excess) are always the minority. A retrospective study of the obstetrical follow up these patients have shown that 23% of them will give birth to a child with a chromosomic abnormality (21 trisomy, 13 trisomy, 45,X, 45,X/46,X iso X (q), 48,XXXX, 49 XXXXXY, del 5 p-). The hypothesis of a tendency toward non-disjunction is pushing for an prenatal diagnosis for patients with X mosaicism. However one can question about the real meaning of this abnormality regarding to the fact that the patients referred are not representative of the general population. Should interchromosomic interaction be taken for responsible? Is the risk for having a child chromosomic abnormality, especially X aneuploidy the same than for the overall population. It certainly would be rewarding to look after these different hypothesis in a multicentric collaborative study.
Abortion, Habitual↗
[Double translocation 46, XX, t(2; 5), t(2; 18) with major reproduction problems].
We report a de novo double reciprocal translocation, involving three chromosomes in a 25 year-old female patient, who has had twelve miscarriages.
Abortion, Habitual↗
[Translocation (X; Y) and genetic counseling].
A t(X; Y) was discovered in 32 year-old female patient who has had three consecutive miscarriages. Molecular analysis of the loci DXS 31 and DYS 22 was performed which confirmed and precise the breakpoints at Xp22.3 and Yq11. Genetic counselling was based upon the accurate definition of the chromosome rearrangement and the analysis of the outcomes of similar published observations.
Abortion, Habitual↗
The cytogenetics of solid tumors. Relation to diagnosis, classification and pathology.
This overview discusses the chromosome changes in solid tumors and how recent advancements in techniques have yielded results which at least qualitatively are similar to those obtained in the leukemias, i.e., that consistent and recurrent chromosome changes characterize most tumors adequately examined and that tumor entities consist of cytogenetically defined and unique subsets. Thus, the findings point to a similar application of the chromosome changes in tumors in their classification, diagnosis and causation.
Adipose Tissue↗
Chromosomal changes in soft-tissue sarcomas. A new diagnostic parameter.
A cytogenetic study was performed on short-term cultures from fresh surgical specimens obtained from 41 patients with soft-tissue sarcomas of various histologic origins. The results demonstrated that myxoid liposarcomas (five tumors) were associated with a specific translocation between chromosomes 12 and 16 and that synovial sarcomas (six tumors) were associated with a specific translocation between the X chromosome and chromosome 18. These chromosomal data have been used to differentiate myxoid liposarcoma from other myxoid tumors exhibiting a non-characteristic histologic picture, as well as to ascertain the diagnosis of synovial sarcoma in undifferentiated soft-tissue sarcomas. The results to date indicate that identification of specific chromosomal changes in sarcomas may provide a new diagnostic criterion for these tumors and possibly improve prognostication with regard to survival and response to treatment.
Adult↗
Nonrandom translocation in extraskeletal myxoid chondrosarcoma.
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Aged↗