FAT1 mutation

The present review discussed the current literature on FAT1, focusing on FAT1 mutations and expression levels, and their impact on signaling pathways and mechanisms in various types of cancer, including both solid tumors and hematological malignancies, such as esophageal squamous cell carcinoma, head and neck squamous cell carcinoma, lung squamous cell carcinoma, hepatocellular carcinoma, glioma, breast cancer, acute lymphoblastic leukemia, acute myeloid leukemia, lymphoma and myeloma. The present review aimed to provide further insights and research directions for future studies on FAT1 as an oncogenic factor or tumor suppressor.

They received postoperative treatment and were monitored for 20 and 26 months, showing good recovery. The phenotypic and genotypic spectrum of AS in pediatric population was expanded by these two patients, which requires the accumulating more cases to gain a deeper understanding.

Combination therapy with EGFR inhibitors and KN93 could be a novel precision therapeutic strategy and a potential clinical solution for EGFR-resistant OSCC patients with FAT1 mutations.

SSDH shows PI3K pathway alterations similar to those seen in other similar proliferative lesions of the breast (i.e., radial scar, infiltrating epitheliosis) and these lesions may possibly be classified as pre-neoplastic rather than hyperplastic. This finding may explain the rare association of SSDH with atypical hyperplasia/carcinoma.

A higher infiltration rate of immune cells including CD4+ T cells, CD8+ T cells, macrophages M1 and regulatory T cells were also observed in the colorectal tumors with FAT1 mutation compared to tumors with wild type FAT1. The results showed that CRC patients with FAT1 mutations exhibited an immunotherapy-favorable profile.

Whole-exome sequencing showed that DYNC1I2, THSD7A, and FAT1 mutations were associated with patient prognosis. Combination therapy involving tislelizumab plus nimotuzumab is a promising, low-toxicity treatment for recurrent or metastatic OSCC in patients with a PS score ≥ 2.

Cell line and patient-derived xenograft-based drug tests validated the specific therapeutic responses predicted by multi-omics subtyping. This study provides a valuable resource as well as insights to better understand SCLC biology and improve clinical practice.

The interplay between cancer driver genes and HOX genes is pivotal in regulating the oncogenic processes underlying the pathogenesis of head and neck squamous cell carcinoma.

H3K27me3 is a useful diagnostic marker, while the loss of CD34 positive fibroblastic network can also be a diagnostic feature of MPNST. NF1 gene inactivation mutations and complete loss of PRC2 activity are the common molecular diagnostic features, but other less commonly recurred genomic aberrations might also contribute to the MPNST pathogenesis.

Conclusions In this cohort of locally advanced HPV-negative HNSCC, our NGS custom panel identified pathogenic variants in 83.3% of the tumors, but only in 20 % of preoperative ctDNA samples. Despite cfDNA increase after surgery, no pathogenic variant was identified in blood samples.

Our findings suggest that TERTp mutation is more frequent in young patients with advanced OTSCC and is associated with worse clinical outcomes. Therefore, TERTp mutation may serve as a prognostic biomarker for OTSCC in young patients. The findings of this study may help in developing personalized treatment strategies for OTSCC based on age and genetic alterations.

Greater clinical benefit was consistently observed with T-DXd vs TPC independent of intrinsic subtype, ESR1 mutation, PIK3CA mutation, or known CDK4/6i resistance marker status. Clinical trial information: NCT03734029. >aIncluded only pts with prior CDK4/6i and ≥1 gene alternation (CCND1, CCNE1, CDK6, FGFR1/2 amplification; RB1, PTEN, RAS, AKT1, ERBB2, FAT1 mutation).