Translocation 10;17 in clear cell sarcoma of the kidney

Punnett, Hope H.; Halligan, Gregory E.; Zaeri, Nayere; Karmazin, Nelly

doi:10.1016/0165-4608(89)90116-7

Cited by 58 publications

(35 citation statements)

References 11 publications

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“…Balanced translocation are undetectable by CGH analysis. Cytogenetic analysis of one reported CCSK identified a balanced translocation, t(10;17)(q22;p13) (Punnett et al, 1989). One sarcomatous Wilms tumor also had a similar translocation, t(10;17)(q22;p12) (Douglass et al, 1985).…”

Section: Discussionmentioning

confidence: 99%

“…The 76-bp, 72-bp, 60-bp, and 41-bp, 10-bp and 5-bp fragments were not apparent under the separating conditions. The size difference between the uncleaved DNA and cDNA fragment (300 bp and 218 bp, respectively) is due to two introns between exons 3 and 4 and exons 4 and 5 (Punnett et al, 1989). The RsaI polymorphism in exon 5 was used to confirm the low informativity of these tumors.…”

Section: Allelic Expression Of H19mentioning

confidence: 99%

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Genetic and Genetic Expression Analyses of Clear Cell Sarcoma of the Kidney

Schuster

Schneider

Fritsch

et al. 2003

Laboratory Investigation

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SUMMARY:Clear cell sarcoma of the kidney (CCSK) represents a significant diagnostic and clinical challenge. In search of diagnostically useful or biologically significant genetic abnormalities, we screened 30 CCSKs from the National Wilms Tumor Study Group. Genetic gains and losses were analyzed using comparative genomic hybridization; loss of heterozygosity at 11p15 was studied using microsatellite analysis. Loss of imprinting (LOI) was studied using allele-specific expression or methylation analysis at the ApaI polymorphic site for IGF2, AluI and RsaI sites for H19, and Cfo I site for SNRPN. Comparative genomic hybridization analysis revealed quantitative abnormalities in only 4 of 30 CCSKs. Two showed gain of 1q, one also showed loss of 10q, and the other also showed loss of terminal 4p. The other two cases demonstrated chromosome 19 loss and chromosome 19p gain, respectively. All 22 cases informative for 11p15 showed retention of both alleles. Of 14 CCSKs informative for IGF2, six showed biallelic expression; all three CCSKs informative for H19 exhibited monoallelic expression. The normal imprint pattern was present in all six CCSKs analyzed for SNRPN methylation. These data demonstrate an absence of consistent genetic gains or losses in CCSKs using these methods. The high frequency of LOI for IGF2 in CCSKs (43%) is comparable to that reported in Wilms tumors. The retention of imprinting at the SNRPN and H19 loci confirm that LOI is not a ubiquitous epigenetic change. This suggests that IGF2, a potent growth factor, may play a role in the development or progression of CCSK. (Lab Invest 2003, 83:1293-1299.

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Section: Discussionmentioning

confidence: 99%

Section: Allelic Expression Of H19mentioning

confidence: 99%

Genetic and Genetic Expression Analyses of Clear Cell Sarcoma of the Kidney

Schuster

Schneider

Fritsch

et al. 2003

Laboratory Investigation

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“…Others are gain of 1q, loss of 16q, loss of 10q and loss of 17. Apart from the above example, with the loss of chromosome 17, which is the site where p53 is located, a reciprocal translocation between chromosomes 10 and 17 has been also documented 26 . In studies of cell lines derived from renal cell carcinoma, loss of 17p heterozygosity has been documented at a higher frequency (48%) than has been inferred from the above clinical studies.…”

Section: Discussionmentioning

confidence: 99%

Investigation of tumour supressor protein p53 in renal cell carcinoma patients

Hodorová¹,

Solár²,

Mihálik³

et al. 2014

Biomed Pap Med Fac Univ Palacky Olomouc Czech Repub

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, Silvia Rybarova aBackground. Investigation of p53 immunoreactivity in formalin-fixed paraffin-embedded tissues of normal renal tissue and renal cell carcinoma with respect to histopathologic subtype and nuclear grade of RCC. Methods. 42 tissue sections of RCC and 5 samples of normal renal tissue were stained for p53 expression using immunohistochemical assay. The results were analyzed in relation to nuclear grade and histopathologic subtype. Results. In total, p53 expression was found to be 4 to 5 times higher (30.8%) in other types of RCC than in the clearcell type of RCC (6.9%). Further, there was no statistically significant difference in p53 overexpression among the histopathologic subtypes (P>0.05, P=0.063). No association was found between the expression of p53 and nuclear grade (P>0.05, P=0.17). Interestingly, our study also showed weak cytoplasmic positivity in renal tubular epithelium. Conclusion. Our findings suggest that p53 might play an important role in tumour development or progression and it might be used as a new predictor and therapeutic target for RCC.

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“…7 These genes belong to a family of genes involved in chromatin binding. Recently, Lee et al 8 identified the genes rearranged in the t(10;17)(q22;p13) translocation previously described in endometrial stromal sarcoma [9][10][11] and also in pediatric clear cell sarcoma of the kidney, 12,13 corresponding to an inframe YWHAE-FAM22 fusion of YWHAE exons 5-2 of FAM22A or FAM22B. 8 The goal of the present study was to analyze the rearrangement of the YWHAE gene by FISH break-apart and RT-PCR techniques, and to identify correlations between YWHAE gene status and morphology, immunohistochemistry (IHC), and clinical behavior in a series of high-grade-morphology endometrial stromal sarcomas with no JAZF1 rearrangements.…”

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confidence: 99%

YWHAE rearrangement identified by FISH and RT-PCR in endometrial stromal sarcomas: genetic and pathological correlations

et al. 2013

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Endometrial stromal sarcomas represent the second most common mesenchymal uterine tumor. The 2003 WHO classification distinguishes low-grade and undifferentiated endometrial stromal sarcomas with different prognoses. Endometrial stromal sarcomas are a genetically heterogeneous group of sarcomas harboring different cytogenetic anomalies. Recently, a fusion between the YWHAE and FAM22A/B genes subsequent to a t(10;17) (q22;p13) has been described in endometrial sarcomas with high-grade histology. We examined YWHAE rearrangements by FISH break-apart and RT-PCR in a series of 27 undifferentiated uterine stromal sarcoma without JAZF1 rearrangements. Immunohistochemistry (IHC) was carried out with a panel of antibodies (estrogen (ER) and progesterone (PR) receptors, CD10, Cyclin D1, b-catenin, p53, and Ki-67). We identified a subgroup of endometrial sarcomas with high-grade histology and uniform morphology harboring YWHAE rearrangements. FISH break-apart was interpretable in 20 cases (74%). Twelve cases (60%) showed o10% of tumor cells with a YWHAE rearrangement, 4 cases (20%) showed between 10 and r20%, and 4 (20%) 420%. RT-PCR was tested on 24/27 cases (88%) and 19 cases were interpretable (79%). Five cases (26%) showed a specific fusion transcript YWHAE-FAM22A/B sequence. The best concordance rate between FISH and RT-PCR (94%) was obtained with the threshold of 20% of cells with a YWHAE rearrangement. The YWHAErearranged cases showed high-grade morphology with uniform appearance, spindle or round epithelioid cells, low ER and PR, CD10 expression, and a high and diffuse positivity for Cyclin D1, p53, and nuclear b-catenin negativity. Cyclin D1 was the most sensitive marker for high-grade endometrial sarcomas with YWHAE rearrangement. All undifferentiated uterine sarcomas with pleomorphic appearances did not harbor any YWHAE rearrangements, except for one case. Overall, for endometrial sarcoma cases with high-grade morphology we recommend to test for YWHAE rearrangements by FISH break-apart, a cost-and time-efficient method, and to complete the investigation by RT-PCR in borderline cases. According to the 2003 WHO classification, endometrial stromal sarcomas are divided into low-grade and undifferentiated, depending on tumor morphology and irrespective of tumor mitotic count. Indeed, low-grade endometrial stromal sarcomas are characterized by small oval or fusiform (blue) cells appearing similar to proliferative endometrial stroma with (often extensive) myometrial permeation, frequent lymphatic invasion, and indolent clinical behavior. 3 Undifferentiated endometrial stromal sarcomas, previously described as high-grade endometrial stromal sarcomas are a group of undifferentiated tumors bearing little

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Translocation 10;17 in clear cell sarcoma of the kidney

Cited by 58 publications

References 11 publications

Genetic and Genetic Expression Analyses of Clear Cell Sarcoma of the Kidney

Genetic and Genetic Expression Analyses of Clear Cell Sarcoma of the Kidney

Investigation of tumour supressor protein p53 in renal cell carcinoma patients

YWHAE rearrangement identified by FISH and RT-PCR in endometrial stromal sarcomas: genetic and pathological correlations

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