CCND1 Dotaz Zobrazit nápovědu
Východisko. Zvýšená tvorba onkogenních proteinů je u některých nádorů podmíněná genovou amplifikací. Vztah exprese regulačního proteinu buněčného cyklu, cyklinu D1 a amplifikace genu CCND1 kódujícího tento protein není u invazivních duktálních karcinomů mléčné žlázy (IDC) plně objasněn. Zvýšený zájem vyvolávají vztahy k expresi receptoru pro estrogen (ER). Metody a výsledky. Vyšetřili jsme počet
Background. Overexpression of oncogenic proteins may be caused by gene amplifications. Cyclin D1 participates in regulation of the cell cycle. Relations between cyclin D1 expression and amplification of CCND1 gene encoding this protein in invasive duct breast carcinomas (IDC) are not fully elucidated. An increased interest is also focused on relations to the estrogen receptor (ER). Methods and Re
Breast cancer associated with BRCA1 and BRCA2 gene mutations differs from non-BRCA tumors in several respects. We determined whether there was any difference in CCND1 (11q13) and ZNF217 (20q13) gene amplification with respect to BRCA status. Of 40 breast cancer samples examined, 15 and 9 were from BRCA1 and BRCA2 mutation carriers, respectively, and 16 from patients without mutation. Fluorescence in situ hybridization showed that eight tumors exhibited CCND1 amplification (20%; 3 BRCA1, 3 BRCA2, 2 non-BRCA). ZNF217 amplification was observed in three of 38 cases (8%; 2 BRCA1, 1 non-BRCA). There was no significant difference in CCND1 and ZNF217 amplification between BRCA1, BRCA2 and non-BRCA tumors. CCND1 amplification was associated with decreased disease-free (P = 0.045) and overall survival (P = 0.015). BRCA1 tumors with CCND1 amplification were estrogen receptor negative, in contrast to CCND1 amplified BRCA2 and non-BRCA tumors, suggesting that concurrent CCND1 amplification and estrogen and progesterone receptor negativity may predict germline BRCA1 gene mutation. All ZNF217 amplified tumors were of the medullary histological type (P = 0.002). There was no statistical correlation between CCND1 and ZNF217 amplification and estrogen receptor, progesterone receptor, and ERBB2 expression and TNM classification. CCND1 amplification did not correlate with EGFR expression.
- MeSH
- amplifikace genu MeSH
- cyklin D1 genetika MeSH
- dospělí MeSH
- duktální karcinom prsu genetika metabolismus patologie MeSH
- erbB receptory metabolismus MeSH
- genetická predispozice k nemoci MeSH
- hybridizace in situ fluorescenční MeSH
- imunoenzymatické techniky MeSH
- lidé středního věku MeSH
- lidé MeSH
- lobulární karcinom genetika metabolismus patologie MeSH
- mladý dospělý MeSH
- mucinózní adenokarcinom genetika metabolismus patologie MeSH
- nádory prsu genetika metabolismus patologie MeSH
- prognóza MeSH
- protein BRCA1 genetika MeSH
- protein BRCA2 genetika MeSH
- proteiny regulující apoptózu MeSH
- receptor erbB-2 metabolismus MeSH
- receptory pro estrogeny metabolismus MeSH
- receptory progesteronu metabolismus MeSH
- trans-aktivátory genetika MeSH
- zárodečné mutace genetika MeSH
- Check Tag
- dospělí MeSH
- lidé středního věku MeSH
- lidé MeSH
- mladý dospělý MeSH
- ženské pohlaví MeSH
- Publikační typ
- časopisecké články MeSH
- práce podpořená grantem MeSH
- Publikační typ
- abstrakt z konference MeSH
- Publikační typ
- abstrakt z konference MeSH
- Publikační typ
- abstrakt z konference MeSH
- MeSH
- cyklin D1 genetika MeSH
- finanční podpora výzkumu jako téma MeSH
- geny erbB-2 genetika MeSH
- lidé MeSH
- nádory prsu genetika MeSH
- Pagetova nemoc prsu genetika patologie MeSH
- receptor erbB-2 analýza genetika MeSH
- senioři nad 80 let MeSH
- senioři MeSH
- Check Tag
- lidé MeSH
- senioři nad 80 let MeSH
- senioři MeSH
- ženské pohlaví MeSH
- Publikační typ
- abstrakt z konference MeSH
Mammary analogue secretory carcinoma of salivary gland origin (MASC) is a recently described tumor resembling secretory carcinoma of the breast characterized by strong S-100 protein, mammaglobin, and vimentin immunoexpression and which harbors a t(12;15) (p13;q25) translocation resulting in ETV6-NTRK3 fusion product. Histologically, conventional MASC displays bland histomorphology and a lobulated growth pattern and is often composed of microcystic, tubular, and solid structures with abundant eosinophilic homogenous or bubbly secretions. Colloid-like secretory material stains positively for periodic acid-Schiff with and without diastase as well as for Alcian Blue. We present for the first time, 3 patients with MASC of the parotid gland in which high-grade (HG) transformation developed in each case characterized by an accelerated clinical course and poor outcome. The HG component revealed strong membrane staining for EGFR and β-catenin, cytoplasmic/nuclear staining for S-100 protein, and nuclear staining for cyclin-D1, whereas HER-2/neu was absent. Analysis for the presence of the ETV6-NTRK3 fusion transcript revealed positivity in both HG and low-grade component of MASC in 2 of the 3 studied cases. The tumor in case 2 was negative in both its elements for the t(12;15) translocation, but ETV6 gene rearrangement was detected in both components in all 3 cases. Analysis of TP53 and CTNNB1 gene mutations in the HG component of MASCs as well as detection of copy number aberration of EGFR and CCND1 gene did not harbor any abnormalities. All 3 patients with HG-transformed MASC died of disseminated disease within 2 to 6 years after diagnosis. Recognizing HG-transformed MASC and testing for ETV6 rearrangement may be of potential value in patient treatment, because the presence of the ETV6-NTRK3 translocation may represent a therapeutic target in MASC.
- MeSH
- beta-katenin analýza genetika MeSH
- biopsie MeSH
- časové faktory MeSH
- cyklin D1 analýza genetika MeSH
- erbB receptory analýza genetika MeSH
- fatální výsledek MeSH
- fúzní onkogenní proteiny genetika MeSH
- imunohistochemie MeSH
- karcinom chemie genetika sekundární terapie MeSH
- lidé středního věku MeSH
- lidé MeSH
- mutace MeSH
- mutační analýza DNA MeSH
- nádorová transformace buněk genetika patologie MeSH
- nádorové biomarkery analýza genetika MeSH
- nádorový supresorový protein p53 genetika MeSH
- nádory příušní žlázy chemie genetika patologie terapie MeSH
- prognóza MeSH
- senioři MeSH
- stupeň nádoru MeSH
- Check Tag
- lidé středního věku MeSH
- lidé MeSH
- mužské pohlaví MeSH
- senioři MeSH
- Publikační typ
- časopisecké články MeSH
- kazuistiky MeSH
