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Genes (14)
Species:
human : 14 | |
| Human | CHL1 | 10752 | cell adhesion molecule L1-like | CHL1 expression was uniformly positive on a cell line derived from angiomyolipoma | | Human | TSC2 | 7249 | tuberous sclerosis 2 | Our observations of frequent deletion of TSC2 and the mTOR signalling pathway provide evidence that the oncogenetic lineage of PEComa, as a distinct TSC2-linked neoplasm, is similar to that of angiomyolipoma Loss of heterozygosity in giant cell astrocytomas, angiomyolipomas, rhabdomyomas (TSC1) Allelic loss on 16p13.3 in angiomyolipoma, cardiac rhabdomyoma, cortical tuber, and giant cell astrocytoma (TSC2) | | Human | TSC1 | 7248 | tuberous sclerosis 1 | Loss of heterozygosity in giant cell astrocytomas, angiomyolipomas, rhabdomyomas (TSC1) Allelic loss on 16p13.3 in angiomyolipoma, cardiac rhabdomyoma, cortical tuber, and giant cell astrocytoma (TSC2) | | Human | TP53 | 7157 | tumor protein p53 | p53 mutations are not always associated with malignant transformation in epithelioid angiomyolipoma | | Human | PKD1 | 5310 | polycystic kidney disease 1 (autosomal dominant) | The pathologic findings highlight the importance of thorough sampling for histology in polycystic kidney diseases and indicate that the observation of an angiomyolipoma in biopsy material from patients with enlarged cystic kidneys should suggest the diagnosis of TSC2/PKD1 contiguous gene syndrome, even in cases without ultrasonographic and macroscopic evidence of angiomyolipoma. | | Human | OGG1 | 4968 | 8-oxoguanine DNA glycosylase | Ser(326)Cys variant of OGG1 may confer risk for development of angiomyolipomas by increasing oxidative DNA damage | | Human | KIT | 3815 | v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog | Expression of KIT (CD117) in angiomyolipoma. | | Human | IFNG | 3458 | interferon, gamma | Title:Association between a high-expressing interferon-gamma allele and a lower frequency of kidney angiomyolipomas in TSC2 patients|Association:Y|Conclusion:Although these results should be replicated in other populations with TSC, the present study suggests that modifier genes play a role in the variable expression of TSC and also suggests a potential therapy for KAMLs in patients with TSC. Allelic loss on 16p13.3 in angiomyolipoma, cardiac rhabdomyoma, cortical tuber, and giant cell astrocytoma (TSC2) Loss of heterozygosity in giant cell astrocytomas, angiomyolipomas, rhabdomyomas (TSC1) | | Human | MLANA | 2315 | melan-A | Comparison of melanoma antigen recognized by T cells (MART-1) to HMB-45: additional evidence to support a common lineage for angiomyolipoma, lymphangiomyomatosis, and clear cell sugar tumor. We also performed RT-PCR assays for gp-100 and Melan-A in 4 of the 18 angiomyolipoma samples and in three normal kidney samples. Angiomyolipoma has a unique immunophenotype with co-expression of muscle-specific actin and melanocytic markers such as HMB-45 and Melan-A. The extent and intensity of immunostaining with HMB-45 and melan-A were dependent on whether spindled or epithelioid cells predominated; the epithelioid cells showed stronger and more widespread reactivity than the spindled cells.CONCLUSION: We believe that the best immunohistochemical marker for confirming the diagnosis of angiomyolipoma is HMB-45, followed by melan-A. We conclude that microphthalmia transcription factor, but not tyrosinase immunostaining, has a sensitivity and specificity that rivals those of the established markers, HMB-45 and Melan-A, in the diagnosis of angiomyolipoma. Microphthalmia transcription factor showed the most widespread staining in angiomyolipoma (50% of cases staining more than half of the tumor cells) followed by Melan-A (24% of cases staining more than 50%). Angiomyolipoma was excluded by negative staining for HMB45, Melan A. CONCLUSION: To our knowledge, only one case of orbital myolipoma has been reported. | | Human | DBH | 1621 | dopamine beta-hydroxylase (dopamine beta-monooxygenase) | One angiomyolipoma showed allele loss for the markers ABO, DBH and D9S66, but not for D9S149 or D9S67. | | Human | CSPG4 | 1464 | chondroitin sulfate proteoglycan 4 | NG2 expression was uniformly positive on a cell line derived from angiomyolipoma | | Human | BRAF | 673 | v-raf murine sarcoma viral oncogene homolog B | aberrant B-Raf activity in angiomyolipomas leads to abnormal cellular differentiation and migration [review] | | Human | ACTC1 | 70 | actin, alpha, cardiac muscle 1 | Histological examination found an angiomyolipoma of the above-mentioned type, and the final diagnosis was ascertained with the aid of vimentin, smooth muscle actin (SMA), and HMB-45. | | Human | ABO | 28 | ABO blood group (transferase A, alpha 1-3-N-acetylgalactosaminyltransferase; transferase B, alpha 1-3-galactosyltransferase) | One angiomyolipoma showed allele loss for the markers ABO, DBH and D9S66, but not for D9S149 or D9S67. |
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