Genetic testing revealed a TP53 mutation consistent with Li-Fraumeni syndrome. This case highlights the difficulties in differentiating between adrenocortical carcinoma and CAH in children. The rare presence of intracardiac extension of the tumor increases the challenge in managing these cases.
In conclusion, these findings suggest that THs regulate adrenal androgen production by modulating the activity of key steroidogenic enzymes. This relationship appears to be predominantly unidirectional, as THs influence adrenal steroidogenesis but adrenal androgens do not alter HPT axis function.
4 days ago
Journal
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AKR1C3 (Aldo-Keto Reductase Family 1 Member C3) • CYP17A1 (Cytochrome P450 Family 17 Subfamily A Member 1)
Mechanistically, MMP-14 translocates to the nucleus and binds to chromatin following DNA damage induced by ionizing radiation or cisplatin...These findings reveal a novel nuclear function for MMP-14 in DNA repair and identify MMP-14 as a promising therapeutic target in ACC. Targeting MMP-14 may sensitize ACC tumors to DNA-damaging chemotherapy by impairing the repair of therapy-induced lesions.
ZUC-1 spheroids exhibited furthermore an intra-spheroidal heterogenous mix of canonical and non-canonical Wnt pathway activation. We conclude that due to its origin and unique geno- and phenotypes, ZUC-1 represents an intriguing model to further gain basic understanding of adrenal function,the pathogenesis of ACC, but it might be also of interest in context of CAH and PCOS.
7 days ago
Journal
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CYP11B1 (Cytochrome P450 Family 11 Subfamily B Member 1)
This study further demonstrates that adrenocortical carcinoma is a Lynch Syndrome-associated cancer and may be associated with high-grade disease. Furthermore, our findings suggest that further research should be pursued to investigate the potential utility of immunotherapy for adrenocortical carcinoma, especially in the presence of microsatellite instability.
P1, N=78, Terminated, Fusion Pharmaceuticals Inc. | N=253 --> 78 | Active, not recruiting --> Terminated; A strategic decision was made to discontinue the study and prioritize other programs within the portfolio. The study was not discontinued due to safety issues or adverse events related to FPI-1434, FPE-1547, or FPI-1175.
At the individual tumor type level, these global cluster features were further modified to adapt to a tissue-specific microenvironment, manifesting distinct tissue-specific patterns. Collectively, these findings provide a foundation for refining biomarker-driven precision medicine strategies for diverse tumor types.
13 days ago
Observational data • Retrospective data • Journal • Pan tumor