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334 results on '"Sumathi, Vaiyapuri"'

12. YAP1-TFE3-fused hemangioendothelioma: a multi-institutional clinicopathologic study of 24 genetically-confirmed cases

Author

Dermawan, Josephine K., Azzato, Elizabeth M., Billings, Steven D., Fritchie, Karen J., Aubert, Sebastien, Bahrami, Armita, Barisella, Marta, Baumhoer, Daniel, Blum, Veronika, Bode, Beata, Aesif, Scott W., Bovée, Judith V. M. G., Dickson, Brendan C., van den Hout, Mari, Lucas, David R., Moch, Holger, Oaxaca, Gabriel, Righi, Alberto, Sciot, Raf, Sumathi, Vaiyapuri, Yoshida, Akihiko, and Rubin, Brian P.

Published
2021
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18. Disruption of the TP53 locus in osteosarcoma leads to TP53 promoter gene fusions and restoration of parts of the TP53 signalling pathway

Author

Saba, Karim H, primary, Difilippo, Valeria, additional, Kovac, Michal, additional, Cornmark, Louise, additional, Magnusson, Linda, additional, Nilsson, Jenny, additional, van den Bos, Hilda, additional, Spierings, Diana CJ, additional, Bidgoli, Mahtab, additional, Jonson, Tord, additional, Sumathi, Vaiyapuri P, additional, Brosjö, Otte, additional, Staaf, Johan, additional, Foijer, Floris, additional, Styring, Emelie, additional, Nathrath, Michaela, additional, Baumhoer, Daniel, additional, and Nord, Karolin H, additional

Published
2023
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21. Targeting the MAPK7/MMP9 axis for metastasis in primary bone cancer

Author

Green, Darrell, Eyre, Heather, Singh, Archana, Taylor, Jessica T., Chu, Jason, Jeys, Lee, Sumathi, Vaiyapuri, Coonar, Aman, Rassl, Doris, Babur, Muhammad, Forster, Duncan, Alzabin, Saba, Ponthan, Frida, McMahon, Adam, Bigger, Brian, Reekie, Tristan, Kassiou, Michael, Williams, Kaye, Dalmay, Tamas, Fraser, William D., and Finegan, Katherine G.

Published
2020
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22. Disruption of the TP53 locus in osteosarcoma leads to TP53 promoter gene fusions and restoration of parts of the TP53 signalling pathway.

Author

Saba, Karim H, Difilippo, Valeria, Kovac, Michal, Cornmark, Louise, Magnusson, Linda, Nilsson, Jenny, van den Bos, Hilda, Spierings, Diana CJ, Bidgoli, Mahtab, Jonson, Tord, Sumathi, Vaiyapuri P, Brosjö, Otte, Staaf, Johan, Foijer, Floris, Styring, Emelie, Nathrath, Michaela, Baumhoer, Daniel, and Nord, Karolin H

Subjects
CELLULAR signal transduction, GENE fusion, OSTEOSARCOMA, GAIN-of-function mutations, CANCER cell proliferation
Abstract

TP53 is the most frequently mutated gene in human cancer. This gene shows not only loss‐of‐function mutations but also recurrent missense mutations with gain‐of‐function activity. We have studied the primary bone malignancy osteosarcoma, which harbours one of the most rearranged genomes of all cancers. This is odd since it primarily affects children and adolescents who have not lived the long life thought necessary to accumulate massive numbers of mutations. In osteosarcoma, TP53 is often disrupted by structural variants. Here, we show through combined whole‐genome and transcriptome analyses of 148 osteosarcomas that TP53 structural variants commonly result in loss of coding parts of the gene while simultaneously preserving and relocating the promoter region. The transferred TP53 promoter region is fused to genes previously implicated in cancer development. Paradoxically, these erroneously upregulated genes are significantly associated with the TP53 signalling pathway itself. This suggests that while the classical tumour suppressor activities of TP53 are lost, certain parts of the TP53 signalling pathway that are necessary for cancer cell survival and proliferation are retained. In line with this, our data suggest that transposition of the TP53 promoter is an early event that allows for a new normal state of genome‐wide rearrangements in osteosarcoma. © 2023 The Authors. The Journal of Pathology published by John Wiley & Sons Ltd on behalf of The Pathological Society of Great Britain and Ireland. [ABSTRACT FROM AUTHOR]

Published
2024
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26. Subclassification of epithelioid sarcoma with potential therapeutic impact

Author

Haefliger, Simon, primary, Chervova, Olga, additional, Davies, Christopher, additional, Nottley, Steven, additional, Hargreaves, Steven, additional, Sumathi, Vaiyapuri P, additional, Amary, Fernanda, additional, Tirabosco, Roberto, additional, Pillay, Nischalan, additional, Beck, Stephan, additional, Flanagan, Adrienne M, additional, and Lyskjær, Iben, additional

Published
2023
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34. Table S6 from In-depth Genetic Analysis of Sclerosing Epithelioid Fibrosarcoma Reveals Recurrent Genomic Alterations and Potential Treatment Targets

Author

Arbajian, Elsa, primary, Puls, Florian, primary, Antonescu, Cristina R., primary, Amary, Fernanda, primary, Sciot, Raf, primary, Debiec-Rychter, Maria, primary, Sumathi, Vaiyapuri P., primary, Järås, Marcus, primary, Magnusson, Linda, primary, Nilsson, Jenny, primary, Hofvander, Jakob, primary, and Mertens, Fredrik, primary

Published
2023
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35. Figure S1 from In-depth Genetic Analysis of Sclerosing Epithelioid Fibrosarcoma Reveals Recurrent Genomic Alterations and Potential Treatment Targets

Author

Arbajian, Elsa, primary, Puls, Florian, primary, Antonescu, Cristina R., primary, Amary, Fernanda, primary, Sciot, Raf, primary, Debiec-Rychter, Maria, primary, Sumathi, Vaiyapuri P., primary, Järås, Marcus, primary, Magnusson, Linda, primary, Nilsson, Jenny, primary, Hofvander, Jakob, primary, and Mertens, Fredrik, primary

Published
2023
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36. Supplementary Methods from In-depth Genetic Analysis of Sclerosing Epithelioid Fibrosarcoma Reveals Recurrent Genomic Alterations and Potential Treatment Targets

Author

Arbajian, Elsa, primary, Puls, Florian, primary, Antonescu, Cristina R., primary, Amary, Fernanda, primary, Sciot, Raf, primary, Debiec-Rychter, Maria, primary, Sumathi, Vaiyapuri P., primary, Järås, Marcus, primary, Magnusson, Linda, primary, Nilsson, Jenny, primary, Hofvander, Jakob, primary, and Mertens, Fredrik, primary

Published
2023
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48. Xanthogranulomatous epithelial tumor: report of 6 cases of a novel, potentially deceptive lesion with a predilection for young women

Author

Jaime I. Davila, Carola A.S. Arndt, Sumathi Vaiyapuri, Cyril Fisher, Jorge Torres-Mora, Rory A. Jackson, Doris E. Wenger, Seshadri Thirumala, Kevin C. Halling, Matthew T. Houdek, Carrie Y. Inwards, Khin Thway, Karen J. Fritchie, Richard Curry, Andrew L. Folpe, and Kay Minn

Subjects
0301 basic medicine, education.field_of_study, Pathology, medicine.medical_specialty, Population, Soft tissue, Biology, Glandular Differentiation, Pathology and Forensic Medicine, Lesion, 03 medical and health sciences, 030104 developmental biology, 0302 clinical medicine, Giant cell, 030220 oncology & carcinogenesis, Eosinophilic, medicine, Immunohistochemistry, Xanthogranulomatous inflammation, medicine.symptom, education
Abstract

Epithelial marker expression and/or epithelial differentiation, as well as “anomalous” expression of keratins, are features of some soft tissue tumors. Recently, we have encountered an unusual mesenchymal tumor composed of bland, distinctly eosinophilic, keratin-positive epithelial cells, which were almost entirely obscured by xanthogranulomatous inflammation. Six cases were identified (5 F, 1 M; 16–62 years (median 21 years)) arising in soft tissue (n = 4) and bone (n = 2) and ranging in size from 2 to 7 cm. The tumors were generally circumscribed, with a fibrous capsule containing lymphoid aggregates, and consisted in large part of a sheet-like proliferation of foamy histiocytes, Touton-type and osteoclast-type giant cells, and chronic inflammatory cells. Closer inspection, however, disclosed a distinct population of uniform, cytologically bland mononuclear cells with brightly eosinophilic cytoplasm arranged singly and in small nests and cords. Overt squamous and/or glandular differentiation was absent. By immunohistochemistry, these cells were diffusely positive with the OSCAR and AE1/AE3 keratin antibodies, and focally positive for high-molecular weight keratins; endothelial and myoid markers were negative and SMARCB1 was retained. RNA-seq identified a PLEKHM1 variant of undetermined significance in one case, likely related to this patient’s underlying osteopetrosis. Follow-up to date has been benign. In summary, we have identified a novel tumor of soft tissue and bone with a predilection for young females, provisionally termed “xanthogranulomatous epithelial tumor”. These unusual lesions do not appear to arise from adnexa, or represent known keratin-positive soft tissue tumors, and the origin of their constituent epithelial cells is obscure. The natural history of this distinctive lesion appears indolent, although study of additional cases and longer term follow-up are needed.

Published
2020

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