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Objective:To investigate the clinicopathologic features and molecular genetics characteristics of sinonasal tract mucosal malignant melanomas(STMMMs)in elderly patients.Methods:The clinicopathological features, immunohistochemical features and BRAF, C-KIT, NRAS mutations of STMMM in ten elderly patients were retrospectively analyzed.Results:Among the 10 patients, 5 were female and 5 were male.The patients were aged 65-81 years, with an average age of(72.5 ± 8.5)years.The lesions in 7 cases were located in the nasal cavity and paranasal sinuses, and in the other 3 cases were located in the nasopharynx.The morphologies of tumor cells under microscope was complex and diverse, showing plasma cell-like, rhabdomyoblast-like, small cell-like, epithelial-like, and spindle cell-like morphologies.Immunohistochemically, HMB-45 and S-100 were generally positive in 10 cases, and the positive rate of Melan A was 70.0%.The genes detection data showed no mutations in BRAF or NRAS genes in all the 10 cases, while C-KIT exon 11 c. 1666_1667insA mutation was found in one case, and the remaining 9 cases were wild-type for C-KIT.All the 10 cases were followed up for 4~50 months.Three cases survived so far.Conclusions:STMMM in elderly patients are rare and easy to be misdiagnosed.Immunohistochemistry and genetic testing provide guidance for accurate diagnosis and targeted therapy.
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Background: Cutaneous melanoma (CM) accounts for about 90% of all melanoma cases. HIF-1α overexpression is associated with poor prognosis in many cancers including CM. Hence, we characterized differentially expressed genes (DEGs) in the response of CM cells to normoxia and hypoxia. Methods: We first successfully constructed cell hypoxia model and then performed RNA-seq to explore the changes of gene transcription in CM cells during hypoxia. The highest expression of the six genes was detected using qRT-PCR and Western blot assays. The binding sites between BIRC7 promoter and HIF-1α was explored by luciferase assay. Cellular function assays were used to observe the role of BIRC7 in the effect of hypoxia on tumor progression. Results: Compared with the transcriptome data of the control group, a total of 2601 DEGs were identified in the hypoxic group. There were 1517 genes with significantly higher expression and 1084 genes with lower expression in the hypoxic group. Among them, OSCAR, BIRC7, HBA1, SFN, GOLT1A, and BEX2 were significantly up-regulated in the hypoxic group. BIRC7 expression was most significantly up-regulated and a downstream factor of HIF-1α. We highlighted that knockdown of BIRC7 reversed the positive effects of HIF-1α on A875 and M14 cells. Conclusion: Our findings demonstrated that BIRC7 was a downstream factor of HIF-1α and reversed the effect of hypoxia on promoting tumor progression of CM cells.
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AIM OF THE STUDY: The arsenal of questions and answers about the minor cancer initiating cancer stem cell (CSC) population put responsible for cancer invasiveness and metastases, has left with an unsolved puzzle. Specific aims of a complex project were partly focused on revealing new biomarkers of cancer. We designed and set up novel techniques to facilitate the detection of cancerous cells. MATERIALS AND METHODS: As a novel approach, we investigated B cells infiltrating breast carcinomas and melanomas (TIL-B) in terms of their tumour antigen binding potential. By developing the TIL-B phage display technology we provide here a new technology for the specific detection of highly tumour-associated antigens. Single chain Fv (scFv) antibody fragment phage ELISA, immunofluorescence (IF) FACS analysis, chamber slide technique with IF confocal laser microscopy and immunohistochemistry (IHC) in paraffin-embedded tissue sections were set up and standardized. RESULTS: We showed strong tumour-associated disialylated glycosphingolipid expression levels on various cancer cells using scFv antibody fragments, generated previously by uniquely invasive breast carcinoma TIL-B phage display library technology. CONCLUSIONS: We report herein a novel strategy to obtain antibody fragments of human origin that recognise tumour-associated ganglioside antigens. Our investigations have the power to detect privileged molecules in cancer progression, invasiveness, and metastases. The technical achievements of this study are being harnessed for early diagnostics and effective cancer therapeutics.
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Primary amelanotic mucosal melanoma is a rare entity with challenging histopathological features. Because these tumors are thought to be biologically more aggressive, they have a poorer prognosis than that of pigmented melanomas. In this work, we present a literature review about the clinical, histopathological, and immunohistochemical features of primary amelanotic mucosal melanoma of the oronasal region and report two new cases. Amelanotic mucosal melanoma commonly affects men in the seventh decade of life and tend to have a poor prognosis, as seen by the high incidence of metastasis, recurrences, and, ultimately, death. There is a similar pattern in the clinic-pathological predilections (such as age, gender, primary site, and metastatic potential) of amelanotic mucosal melanoma when comparing with data reported for pigmented lesions. This work reinforces knowledge about amelanotic mucosal melanomas and epidemiologic predilections. The optimal management of this lesion remains controversial.