Trisomy 7 and trisomy 10 characterize subpopulations of tumor-infiltrating lymphocytes in kidney tumors and in the surrounding kidney tissue.

Cin, Paola Dal; Aly, Magda M.; Delabie, Jan; Ceuppens, Jan; Gool, SW Van; Damme, B Van; Baert, Luc; Poppel, Hendrik Van; Berghe, Herman Van den

doi:10.1073/pnas.89.20.9744

Cited by 61 publications

(21 citation statements)

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“…44 Loss of the Y chromosome and trisomy 7 were the most common abnormalities noted in benign prostatic hyperplasia, 45 although the authors point out the possibility that the trisomic cells may be infiltrating lymphocytes, which may have trisomy 7. 46 In our study, however, no lymphocytes or epithelial cells contaminated the fibroblast cultures.…”

Section: Discussioncontrasting

confidence: 49%

Increased frequency of chromosome abnormalities in fibroblasts from hairy cell leukemia patients

et al. 1997

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A hereditary component is implicated in many different cancers, including hairy cell leukemia (HCL), and may involve an instability of the genome. We have previously documented recurrent clonal and non-clonal chromosomal abnormalities in hairy cells. To ascertain whether this instability of the genome is restricted to the malignant cells or if it might also include normal cells we performed cytogenetic investigations on skin fibroblasts and hairy cells from eight HCL patients and skin fibroblasts from eight referents. The frequency of chromosome abnormalities, regardless of clonality, was significantly increased in the fibroblasts from patients compared to referents. Also, five patients compared to one referent showed clonal abnormalities in their fibroblasts. Immunohistochemical investigations excluded the possibility that the fibroblast cultures were contaminated with hairy cells. Two patients had constitutional abnormalities, inv(5)(p13.1q13.3) and t(13;14), and one additional patient, possibly mosaic, showed the same abnormality, inv (9)

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Section: Discussioncontrasting

confidence: 49%

Increased frequency of chromosome abnormalities in fibroblasts from hairy cell leukemia patients

et al. 1997

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“…Alternatively, otherwise healthy people might have (numerical) chromosomal aberrations (18). Dal Cin et al (1992) reported on the occurrence and selective accumulation of apparently normal T-lymphocytes with trisomy 7 or 10 in patients with renal cell carcinoma (9). The practical consequences of these phenomena are that subsequent statistical decision procedures will lead to wrong decisions (Table 4).…”

Section: Discussionmentioning

confidence: 99%

“…Probes specific for chromosomes Nos. 1 , 7 , 8 , and 9 were used for estimation of ISH artiIn situ hybridisation (ISH) techniques are now widely applied in cytogenetic research and clinical diagnosis. Important features of the molecular ISH approach distinguishing it from morphological banding cytogenetic techniques are: (1) the possibility of interphase cell analysis or "interphase cytogenetics" (8); (2) unambiguous identification of marker chromosomes facts.…”

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confidence: 99%

Statistical methods in interphase cytogenetics: An experimental approach

et al. 1993

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In situ hybridization (ISH) techniques on interphase cells, or interphase cytogenetics, have powerful potential clinical and biological applications, such as detection of minimal residual disease, early relapse, and the study of clonal evolution and expansion in neoplasia. Much attention has been paid to issues related to ISH data acquisition, i.e., the numbers, colors, intensities, and spatial relationships of hybridization signals. The methodology concerning data analysis, which is of prime importance for clinical applications, however, is less well investigated. We have studied the latter for the detection of small monosomic and trisomic cell populations using various mixtures of human female and male cells. With a chromosome X specific probe, the male cells simulated monosomic subpopulations of 0, 1, 5, 10, 50, 90, 95, 99, and 100%. Analogously, when a (7 + Y) specific probe combination was used, containing a mixture of chromosome No. 7 and Y-specific DNA, the male cells simulated trisomic cell populations. Probes specific for chromosomes Nos. 1 , 7 , 8 , and 9 were used for estimation of ISH artiIn situ hybridisation (ISH) techniques are now widely applied in cytogenetic research and clinical diagnosis. Important features of the molecular ISH approach distinguishing it from morphological banding cytogenetic techniques are: (1) the possibility of interphase cell analysis or "interphase cytogenetics" (8); (2) unambiguous identification of marker chromosomes facts. Three statistical tests, the Kolmogorov-Smirnov test, the multiple-proportion test, and the z'-max test, were applied to the empirical data using the control data as a reference for ISH artifacts. The Kolmogorov-Smirnov test was found to be inferior for discrimination of small monosomic or trisomic cell populations. The other two tests showed that when 400 cells were evaluated, and using selected control probes, monosomy X could be detected at a frequency of 5%

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“…17 evaluated the frequency of PTEN trisomy through in situ hybridization in 17 specimens of patients undergoing nephrectomy. Trisomy was found in five patients (30%).…”

Section: Results Results Results Resultsmentioning

confidence: 99%

Análise do gene PTEN por hibridização in situ fluorescente no carcinoma de células renais

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Fonseca

Zequ

et al. 2013

Rev. Col. Bras. Cir.

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Results ResultsResults Results: The mean follow-up time was 41.9 months. Hemizygous deletion was detected in 18 patients (33.9%), while the homozygous one was present in three (5.6%). Deletion was present in approximately 40% of the analyzed cases. Monosomy and trisomy were detected in nine (17%) and two patients (3.8%), respectively. In 21 patients (39.6%) the analysis of the PTEN gene by in situ hybridization was normal. There were no statistically significant differences in overall (p = 0.468) and disease-free (p = 0.344) survival rates between patients with or without deletion. Factors which were independent for overall survival: TNM clinical stage, symptoms at diagnosis, high Fuhrmann grade, performance status (ECoG) and tumor recurrence. . Despite the increase in diagnosis of smaller, asymptomatic renal tumors, nearly 30% of patients have metastases at diagnosis and other 30% will develop metastases during the course of the disease, even when it is localized [1][2][3][4] . Biomolecular factors have been studied to aid in clinical and pathological staging, identifying different genes and proteins capable of predicting the risk of progression or death by the disease and identify patients who may have a better response to treatment 3 . Among the genes studied, PTEN (phosphatase with tensin homology deleted in chromosome 10) is a tumor suppressor gene located on chromosome 10q23 and may be inactivated due to mutations and deletions, these being found in various solid malignancies 2. In RCC, a deletion or mutation of PTEN, as well as its immunohistochemistry low expression, are associated with the invasive and metastatic phenotype of tumor 2,[4][5][6][7][8] . The aim of this study was to analyze the PTEN gene via tissue microarray (TMA) by the technique of fluorescence in situ hybridization (FISH), determining the frequency of deletion and its impact on the rates of overall and disease free survival. METHODS METHODS METHODS METHODS METHODSWe retrospectively analyzed 53 patients with renal cell carcinoma, metastatic or not at diagnosis, and subjected to surgical treatment between 1980 and 2007. The research of fluorescent in situ hybridization (FISH) of the PTEN gene was initially performed in specimens from 110 patients, which had been submitted to TMA, but only in 53 samples (48.2%) it was possible to perform the proposed reaction. The 53 tumors designated by their corresponding registration pathology report numbers, previously selected and classified, were included in the construction of a TMA receptor paraffin block (Beecher Instruments, Silver Spring, MD) from samples of the original donor block, with 1mm diameter needle (TMArrayer punch MP10-1.0mm) after the previous choice and marking of the neoplasm representative area from the original hematoxylin and eosin slide.We performed punctures in duplicate (two fragments each case) of the donor and receptor paraffin blocks, thus containing two different areas of the tumor in each case. Histological sections with 3 to 4 ìm thickness of the receptor paraffin bloc...

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Trisomy 7 and trisomy 10 characterize subpopulations of tumor-infiltrating lymphocytes in kidney tumors and in the surrounding kidney tissue.

Abstract: We performed conventional cytogenetic analysis and fluorescence in situ hybridization in short-term

Cited by 61 publications

References 15 publications

Increased frequency of chromosome abnormalities in fibroblasts from hairy cell leukemia patients

Increased frequency of chromosome abnormalities in fibroblasts from hairy cell leukemia patients

Statistical methods in interphase cytogenetics: An experimental approach

Análise do gene PTEN por hibridização in situ fluorescente no carcinoma de células renais

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