Non-Susceptibility Gene Variants in Head and Neck Paragangliomas DOI Open Access
Anastasiya V. Snezhkina, Vladislav Pavlov, George S. Krasnov

и другие.

International Journal of Molecular Sciences, Год журнала: 2024, Номер 25(23), С. 12762 - 12762

Опубликована: Ноя. 27, 2024

Head and neck paragangliomas (HNPGLs) are rare neoplasms that, along with pheochromocytomas extra-adrenal paragangliomas, associated inherited mutations in at least 12 susceptibility genes approximately 40% of cases. However, due to the rarity HNPGLs, only a series small-scale studies individual cases have reported additional that may be involved tumorigenesis. Consequently, numerous disease-causing responsible for pathogenesis HNPGLs remain poorly investigated. The aim this study was gain deeper understanding genetic basis by focusing on variants were not previously identified as well-known drivers. A whole-exome data analysis conducted representative set 152 HNPGLs. In 30% tumors examined, 53 potentially deleterious 36 different genes. pathogenic or likely ARNT, IDH2, L2HGDH, MYH3, PIK3CA, TERT functional network mutated revealed associations list metabolic pathways (e.g., TCA cycle, carbon metabolism, pyruvate etc.) signaling HIF1, PI3K-Akt, FoxO, AMPK, MAPK, play an important role development range alterations affecting multiple and, potentially, influencing diverse cellular provides enhanced molecular characterization

Язык: Английский

Prognostic and clinicopathological roles of circular RNA expression in chemoresistance in head and neck squamous cell carcinoma: a systematic review DOI Creative Commons
Sayan Kumar Das, Sameer Khasbage, Abhishek Mishra

и другие.

Frontiers in Pharmacology, Год журнала: 2025, Номер 16

Опубликована: Март 19, 2025

Background Characterized by a poor prognosis and survivability, head neck squamous cell carcinoma (HNSCC) is an aggressive neoplastic condition with propensity for recurrence where the development of chemoresistance adversely affects prognostic outcome. Recently, it was shown that circular RNAs (circRNAs) augment cellular survivability malignant cells. Hence, biomarkers early detection in these patients can significantly aid preventing Objective The present study aimed to systematically identify circRNAs play vital role HNSCC understand their mechanisms action chemoresistance. Methods protocol prospectively registered on PROSPERO no. CRD42024532291. A six-stage methodological PRISMA recommendations were followed review. Results Discussion 13 studies identified which yielded have been investigated HNSCC. Of these, 11 reported be upregulated while only 2 found downregulated. Moreover, we modulate autophagy (circPARD3, circPKD2, circAP1M2 circPGAM1), apoptosis (circ-ILF2, circANKS1B, circTPST2, circPUM1 circ_0001971), drug efflux has_circ_0005033 circTPST2), EMT (circANKS1B, circCRIM1, tumor microenvironment (circ-ILF2. circ-ILF2, circCRIM1 DNA damage (circTPST2) potential (hsa_circ_0000190 hg19_ circ_0005033). Conclusion may serve as well response chemotherapy Systematic Review Registration , identifier

Язык: Английский

Процитировано

0

Advancements in Clinical Research and Emerging Therapies for Triple-Negative Breast Cancer Treatment DOI
Lili Xu, Pengtao Xu, Jingsong Wang

и другие.

European Journal of Pharmacology, Год журнала: 2024, Номер unknown, С. 177202 - 177202

Опубликована: Дек. 1, 2024

Язык: Английский

Процитировано

1

Host physiology shapes the mutational landscape of normal and carcinogenic tissue DOI
Nadia Nasreddin, Owen J. Sansom

Nature Genetics, Год журнала: 2024, Номер 56(10), С. 2002 - 2003

Опубликована: Сен. 26, 2024

Язык: Английский

Процитировано

0

Immune cell infiltration and drug sensitivity in PIK3CA-mutated esophageal squamous cell carcinoma: A TCGA database analysis DOI
Shuo He, Qing Liu,

Shujuan Luo

и другие.

Human Immunology, Год журнала: 2024, Номер 85(6), С. 111167 - 111167

Опубликована: Окт. 28, 2024

Язык: Английский

Процитировано

0

Non-Susceptibility Gene Variants in Head and Neck Paragangliomas DOI Open Access
Anastasiya V. Snezhkina, Vladislav Pavlov, George S. Krasnov

и другие.

International Journal of Molecular Sciences, Год журнала: 2024, Номер 25(23), С. 12762 - 12762

Опубликована: Ноя. 27, 2024

Head and neck paragangliomas (HNPGLs) are rare neoplasms that, along with pheochromocytomas extra-adrenal paragangliomas, associated inherited mutations in at least 12 susceptibility genes approximately 40% of cases. However, due to the rarity HNPGLs, only a series small-scale studies individual cases have reported additional that may be involved tumorigenesis. Consequently, numerous disease-causing responsible for pathogenesis HNPGLs remain poorly investigated. The aim this study was gain deeper understanding genetic basis by focusing on variants were not previously identified as well-known drivers. A whole-exome data analysis conducted representative set 152 HNPGLs. In 30% tumors examined, 53 potentially deleterious 36 different genes. pathogenic or likely ARNT, IDH2, L2HGDH, MYH3, PIK3CA, TERT functional network mutated revealed associations list metabolic pathways (e.g., TCA cycle, carbon metabolism, pyruvate etc.) signaling HIF1, PI3K-Akt, FoxO, AMPK, MAPK, play an important role development range alterations affecting multiple and, potentially, influencing diverse cellular provides enhanced molecular characterization

Язык: Английский

Процитировано

0