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Systemic Therapy (Targeted Therapy and Immunotherapy) for Thyroid Cancers
Published in Madan Laxman Kapre, Thyroid Surgery, 2020
Another genetic translocation involved in thyroid carcinogenesis is PAX8-PPARγ. This translocation leads to the fusion between the PAX8 gene and the peroxisome proliferator–activated receptor (PPARγ) gene. PAX8–PPARγ has an inactivating effect on the wild-type tumor suppressor PPARγ and transactivates certain PAX8-responsive genes [16]. This translocation occurs in about 40%–60% of FTC [12].
Endocrinology
Published in Stephan Strobel, Lewis Spitz, Stephen D. Marks, Great Ormond Street Handbook of Paediatrics, 2019
Mehul Dattani, Catherine Peters
The incidence is 1 in 4,000 newborn infants. Those cases due to an inborn error of hormonogenesis are inherited in an autosomal recessive fashion, while those due to a dysgenetic gland have a low recurrence rate (1 in 100). Mutations in several transcription factors including PAX8, TTF1 and TTF2 are associated with the latter.
Differentiated thyroid carcinoma
Published in David S. Cooper, Jennifer A. Sipos, Medical Management of Thyroid Disease, 2018
Carolyn Maxwell, Jennifer A. Sipos
Most FTC tumors harbor either RAS mutations or PAX8/PPARγ gene rearrangements (11). RAS mutations can be seen in all stages of differentiation of thyroid tumors, from follicular adenomas, to well-differentiated tumors such as FTC and FVPTC, as well as poorly differentiated tumors and anaplastic carcinoma (122, 123). This finding across the spectrum of neoplasms points to the possible role of RAS mutations as an early event in tumorigenesis. Others have opined that the presence of a RAS mutation in a follicular adenoma represents a precursor lesion to the development of FTC (123, 124). There are three main isoforms in the RAS family, H-, N-, and K-RAS; all are encoded by different genes. PAX8/PPARγ rearrangements may also be seen in both adenomas and carcinomas (125). The mechanisms triggering the oncogenic activity of this rearrangement are poorly delineated.
Frequency of metastasis to the gastrointestinal tract determined by endoscopy in a community-based gastroenterology practice
Published in Baylor University Medical Center Proceedings, 2021
Vishal Kaila, Rajeev Jain, Donna J. Lager, Pamela Jensen, Mark Feldman
The biopsies obtained at the time of endoscopy were fixed in formalin and processed routinely; hematoxylin/eosin–stained tissue sections were prepared. Slides were then examined and diagnoses rendered by board-certified pathologists from ProPath, who were located at Texas Digestive Disease Consultants, or by pathologists in the Department of Pathology at Texas Health Presbyterian Hospital Dallas. Additional immunohistochemical stains were used to help establish the origin of the metastatic tumors. CDX2 is a highly sensitive and specific marker for adenocarcinomas of intestinal origin.6 Thyroid transcription factor-1, expressed in the epithelial cells of the thyroid gland and lung, was used to identify lung adenocarcinomas.7 Though both lung and breast adenocarcinomas can express estrogen receptor and HER2, other markers such as GATA3 were utilized to distinguish breast adenocarcinomas from other malignancies.8 A immunohistochemical profile that was positive for CK7 and negative for CK20 and CDX2 supported an ovarian origin of the metastasis.9 Prostate-specific antigen stains were used to classify prostate adenocarcinomas.10 PAX8 is frequently positive with metastatic tumors of renal origin.11 SOX10 and Mart 1 immunohistochemistry stains are helpful to confirm the diagnosis of melanoma.12
High grade, advanced, serous ovarian cancer with low serum CA125 levels
Published in Journal of Obstetrics and Gynaecology, 2021
Aula Asali, Nasreen Haj-Yehia, Tania Zehavi, Talila Perry, Mario Beiner, Ami Fishman, Yfat Kadan
Patients with low serum CA125 at diagnosis had lower CA125 level at recurrence as well. This observation suggests that low CA125 levels were related to lower tissue expression of the glycoprotein. Correlation between serum CA125 level and tissue expression of CA125 was previously established, but the studies included different types of EOC (Høgdall et al. 2007; Das et al. 2014). The immunohistochemistry profiles of representative tumours from the cohort, supports the hypothesis that low serum CA 125 level is related to different molecular structure of these tumours. The group of patients with low CA125 levels included more cases of low tissue expression of CA125 and negative P53 staining. All tumours tested positive for PAX8, which indicates that the tumours were truly of ovarian epithelial non-mucinous origin (Nonaka et al. 2008; Xiang and Kong 2013).
SOX13 dependent PAX8 expression promotes the proliferation of gastric carcinoma cells
Published in Artificial Cells, Nanomedicine, and Biotechnology, 2019
Liang-Yu Bie, Dan Li, Yan Wei, Ning Li, Xiao-Bing Chen, Su-Xia Luo
PAX8 has been reported as a significant transcription factor in embryonic development [9]. More reports shown that silencing of PAX8 expression in embryonic cells can lead to abnormal development of the urinary system organs, including kidney and the lack of PAX8 gene in mice sufficiently leads to endometrial insufficiency [10]. In addition, PAX8 has also been reported to exhibit a high expression pattern in tumour cells with malignant proliferation [11,12]. Staining results indicate that PAX8 expression in ovarian and endometrial cancer tumour tissue is significantly elevated relative to adjacent tissues, particularly in serous tumours such as ovarian cancer and clear cell carcinoma [13,14]. Furthermore, ovarian cancer patients with high expression of PAX8 usually have a high recurrence rate and poor clinical prognosis [15]. However, the role of PAX8 on proliferation and its clinical significance in human gastric cancer has not been reported.