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Genes (9)
Species: human : 9 | |
Human | HMGA2 | 8091 | high mobility group AT-hook 2 | An endometrial polyp with a rearrangement of HMGI-C underlying a complex cytogenetic rearrangement involving chromosomes 2 and 12. Benign mesenchymal neoplasms associated with rearrangements of the DNA architectural factor gene HMGIC on chromosome 12 include lipomas, uterine leiomyomata, pulmonary chondroid hamartomas, endometrial polyps, salivary gland pleomorphic adenomas, and breast fibroadenomas. HMGI-C and HMGI(Y) immunoreactivity correlates with cytogenetic abnormalities in lipomas, pulmonary chondroid hamartomas, endometrial polyps, and uterine leiomyomas and is compatible with rearrangement of the HMGI-C and HMGI(Y) genes. In a totally benign endometrial polyp, double minute chromosomes were shown to contain an amplified and apparently nonrearranged HMGIC gene, expressed in the tumor cells, suggesting amplification of HMGIC through double minute chromosome formation as another hitherto unreported mechanism associated with the development of some mesenchymal tumors. Amplification and expression of the HMGIC gene in a benign endometrial polyp. Defects in the HMGI-C gene have been found in a variety of benign tumors, such as uterine leiomyomas, endometrial polyps, lipomas, and pulmonary chondroid hamartomas. This finding suggests a role for the HMGI-C gene also in the pathogenesis of this uncommon benign tumor type, in addition to its well-established role in the pathogenesis of common benign tumors such as lipomas, uterine leiomyomas, pulmonary chondroid hamartomas, and endometrial polyps. The results of this study demonstrate that expression of HMGI-C or HMGI(Y) is a common occurrence in lipomas, pulmonary chondroid hamartomas, leiomyomata, and endometrial polyps; that it correlates with 12q15 and 6p21 chromosomal alterations (p < 0.001); and that it is compatible with rearrangement of the HMGI-C and HMGI(Y) genes. Recently, the high mobility group protein gene, HMGIC, was identified as a common genetic denominator in benign tumors with chromosome 12q13-15 aberrations, such as lipomas, uterine leiomyomas, pleomorphic adenoma of the salivary glands, hamartomas of breast and lung, angiomyxomas, and endometrial polyps. Because abnormal expression of HMGIC or HMGIY as a consequence of structural chromosome changes in 12q15 or 6p21, respectively, is invariably associated with benign neoplasia, tamoxifen-associated endometrial polyps are unlikely to undergo further malignant transformation, and a mode of action of tamoxifen as an external carcinogen is unlikely. | Human | PTGS2 | 5743 | prostaglandin-endoperoxide synthase 2 (prostaglandin G/H synthase and cyclooxygenase) | Stromal expression of COX-2 (cyclooxygenase 2), was significantly higher in premenopausal endometrial polyps compared to postmenopausal polyps changes in COX-2 and Ki-67 expression peaked during the proliferative phase and fell during the late luteal phase in endometrial polyps and disease-free endometria | Human | MMP9 | 4318 | matrix metallopeptidase 9 (gelatinase B, 92kDa gelatinase, 92kDa type IV collagenase) | Stromal expression of MMP-9 (matrix metalloproteinase-9) was significantly higher in premenopausal endometrial polyps compared to postmenopausal polyps | Human | MMP2 | 4313 | matrix metallopeptidase 2 (gelatinase A, 72kDa gelatinase, 72kDa type IV collagenase) | Stromal expression of MMP-2 (matrix metalloproteinase-2) was significantly higher in premenopausal endometrial polyps compared to postmenopausal polyps | Human | MKI67 | 4288 | antigen identified by monoclonal antibody Ki-67 | changes in COX-2 and Ki-67 expression peaked during the proliferative phase and fell during the late luteal phase in endometrial polyps and disease-free endometria | Human | KIT | 3815 | v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog | Immunoprecipitation followed by Western blot analysis confirmed expression of full-length CD117 in an endometrial polyp and carcinoma, and revealed a correlation between levels of immunoprecipitated CD117 and immunohistochemical staining intensity. | Human | HMGA1 | 3159 | high mobility group AT-hook 1 | FISH results revealed that the chromosomal breakpoints of 11 pulmonary chondroid hamartomas (PCHs), 12 endometrial polyps (EPs), one lipoma, and two uterine leiomyomas (ULs) were located within a 80 kb region surrounding the HMGIY gene. Because abnormal expression of HMGIC or HMGIY as a consequence of structural chromosome changes in 12q15 or 6p21, respectively, is invariably associated with benign neoplasia, tamoxifen-associated endometrial polyps are unlikely to undergo further malignant transformation, and a mode of action of tamoxifen as an external carcinogen is unlikely. | Human | CYP19A1 | 1588 | cytochrome P450, family 19, subfamily A, polypeptide 1 | The presence of aromatase expression was significantly higher in endometrial polyps than in disease-free endometria Overexpression of endometrial aromatase may underlie pathogenesis of endometrial polyps at least in a subset of cases | Human | CD34 | 947 | CD34 molecule | Immunostaining for calretinin and CD34 is helpful in the diagnosis of endometrial polyp and hyperplasia |
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