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001-es BibID:BIBFORM048394
035-os BibID:PMID:23945465 ID:204
Első szerző:András Csilla (onkológus szakorvos)
Cím:Occurrence of bladder metastasis 10 years after surgical removal of a primary gastric cancer : a case report and review of the literature / Csilla András, László Tóth, János Pósán, Emese Csiki, Miklós Tanyi, Zoltán Csiki, Zoltán Garami, Attila Enyedi, Tibor Flaskó, Zsolt Horváth
Dátum:2013
ISSN:1752-1947
Megjegyzések:Secondary bladder neoplasms are uncommon and they represent only 2% of all malignant bladder tumors. CASE PRESENTATION: The authors present a case of a 59-year-old Caucasian man with a primary gastric adenocarcinoma that had been surgically removed 10 years before he developed bladder metastasis. He presented with low abdominal pain after 10 years without any symptoms. Cystoscopy and an abdominal computed tomography scan showed a bladder tumor. A transurethral resection of the bladder tumor was performed. A histological examination revealed an adenocarcinoma, which turned out to be a metastasis of the primary gastric tumor. One year later, abdominal surgery revealed peritoneal metastases. CONCLUSION: This is the first known case in Europe where bladder metastasis occurred 10 years after surgical removal of a primary gastric neoplasm. There are only four cases in the literature where metastases of the peritoneum developed 11 years after surgical removal of a primary gastric tumor.
Tárgyszavak:Orvostudományok Klinikai orvostudományok idegen nyelvű folyóiratközlemény külföldi lapban
Megjelenés:Journal of Medical Case Reports 7 : 204 (2013), p. 1-8. -
További szerzők:Tóth László (1971-) (patológus) Pósán János (1976-) (sebész) Csiki Emese (1986-) (onkoradiológus) Tanyi Miklós (1968-) (sebész) Csiki Zoltán (1962-) (belgyógyász, allergológus, klinikai immunológus, reumatológus) Garami Zoltán (1963-) (orvos) Enyedi Attila (1975-) (sebész) Flaskó Tibor (1960-) (urológus) Horváth Zsolt (1964-) (onkológus, belgyógyász, klinikai farmakológus)
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DOI
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2.

001-es BibID:BIBFORM056494
Első szerző:Tanyi Miklós (sebész)
Cím:MLH1 and MSH2 mutation screening in HNPCC families of Hungary - Two new MMR gene mutations / M. Tanyi, J. Olasz, J. L. Tanyi, L. Tóth, P. Antal-Szalmás, Z. Ress, T. Bubán, K. Palatka, C. András, H. Urbancsek, Z. Garami, O. Csuka, L. Damjanovich
Dátum:2014
Megjegyzések:Hereditary Non-Polyposis Colorectal Cancer is an inherited disease with deleterious germline mutations in the DNA mismatch repair genes causing the development of colon cancer and other malignancies. This is the first study in Hungary screening the population of our colorectal cancer patients in order to identify the prevalence of the disease. METHODS: In families who met the Modified Amsterdam and Bethesda Criteria the removed tumor tissue was first examined by immunohistochemistry and microsatellite instability analysis. Those cases which showed high microsatellite instability underwent DNA sequencing and multiple ligation dependent probe amplification. RESULTS: Of the 1576 patients with colorectal cancer underwent screening for the modified Amsterdam and Bethesda criteria, 69 (4.4%) and 166 (10.5%) fulfilled the criteria respectively. 15 patients (31%) of the Amsterdam positive group and 19 patients from the Bethesda positive (18.1%) were MSI-H. There were 8 pathogenic mutations identified in 9 families (60%) in the Amsterdam positive group. 5 mutations were found in 5 families (26%) in the Bethesda positive group. 12 pathogenic mutations were identified, two of these are newly identified, and being published first in this work. These two new mutations were located on MLH1 (g.31276_35231del) and MSH2 (c.969_970delTC) genes. CONCLUSION: The prevalence of the mutations in the MLH1 and MSH2 genes was almost equal in our Hungarian colorectal cancer patients. One mutation in the MLH1 gene (c.143A > C; p.Q48P) was identified in three different families. Whether this mutation is the most frequent in the Hungarian population is still unidentified and warrant further investigation.
Tárgyszavak:Orvostudományok Klinikai orvostudományok idegen nyelvű folyóiratközlemény külföldi lapban
Megjelenés:European Journal of Surgical Oncology . - 40 : 11 (2014), p. 1445-1452. -
További szerzők:Olasz J. (Budapest) Tanyi János L. Tóth László (1971-) (patológus) Antal-Szalmás Péter (1968-) (laboratóriumi szakorvos) Ress Zsuzsa (1976-) (belgyógyász) Bubán Tamás (1967-) (belgyógyász, gasztroenterológus) Palatka Károly (1961-) (belgyógyász, gasztroenterológus) András Csilla (1961-) (onkológus szakorvos) Urbancsek Hilda (1966-) Garami Zoltán (1963-) (orvos) Csuka Orsolya Damjanovich László (1960-) (általános sebész)
Internet cím:Intézményi repozitóriumban (DEA) tárolt változat
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3.

001-es BibID:BIBFORM031252
Első szerző:Tanyi Miklós (sebész)
Cím:Q48P mutation in the hMLH1 gene associated with Lynch syndrome in three Hungarian families / Tanyi Miklós, Olasz Judit, Tanyi Janos L., Tóth László, Antal-Szalmás Péter, Bubán Tamás, András Csilla, Urbancsek Hilda, Garami Zoltán, Csuka Orsolya, Damjanovich László
Dátum:2012
ISSN:1389-9600
Megjegyzések:Lynch syndrome (Hereditary nonpolyposis colorectal cancer, HNPCC) is an inherited disease with variable phenotype causing the development of colon cancer and other malignancies. The basis of the disease is believed to be the mismatch repair gene mutations. Genetic screening has been performed among the patients who have undergone surgery for colon cancer at the University of Debrecen, Department of Surgery. Tumor samples of the screened patients were submitted to immunohistochemistry on hMLH1, hMSH2 and hMSH6 genes, microsatellite instability testing, followed by sequencing and multiple ligation dependent probe amplification. Three families were identified with the missense mutation c.143A>C (p.Q48P) of hMLH1 gene. In one of the families a segregation analysis of this particular variant was also accomplished. The segregation analysis revealed a clear correlation between the tumor cases and the occurrence of this mutation. However, none of the analyzed 100 healthy controls demonstrated the same aberration. There is only one published evidence in the literature about the presence of this rare variant in any population. The Gln to Pro switch in the ATPase domain, a conservative region of the hMLH1 gene, creates significant changes in the protein structure. These results indicate that this mutation is the abnormality responsible for the patients' phenotype and it is feasible that this particular aberration occurs more frequently among Hungarian Lynch syndrome patients.
Tárgyszavak:Orvostudományok Klinikai orvostudományok idegen nyelvű folyóiratközlemény külföldi lapban
Lynch syndrome
Hungarian
MMR
MSI
hMLH1
Megjelenés:Familial Cancer. - 11 : 3 (2012), p. 519-524. -
További szerzők:Olasz Judit Tanyi János L. Tóth László (1971-) (patológus) Antal-Szalmás Péter (1968-) (laboratóriumi szakorvos) Bubán Tamás (1967-) (belgyógyász, gasztroenterológus) András Csilla (1961-) (onkológus szakorvos) Urbancsek Hilda (1966-) Garami Zoltán (1963-) (orvos) Csuka Orsolya Damjanovich László (1960-) (általános sebész)
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