BRAF mutation

As surgical resection was not feasible, first-line treatment with ipilimumab plus nivolumab combined with chemotherapy was initiated, resulting in a partial response...Thirteen months later, the patient developed radiographic worsening of ILD, for which oral prednisolone was initiated...The patient received two cycles of nab-paclitaxel plus carboplatin without response and subsequently died. These findings emphasize that clinicians should recognize that IMA may undergo sarcomatous transformation.

NRAS p.Q61R/K comprises 99% of reported NRAS variants. TERTp is the most frequent co-mutation. Among NRAS p.Q61R/K nodules, there are 2 different clusters of samples based on the activity of hallmarks of cancer pathways. Further studies correlating these clusters with clinical and pathological outcomes are necessary.

MET fusions are actionable oncogenic drivers across several cancers, and their detection has therapeutic relevance with approved inhibitors. This case expands the spectrum of MET-driven CNS tumors and suggests that CLIP2::MET fusion may represent a distinct molecular subset of glioneuronal tumors relevant to precision oncology.

Co-expression network analysis highlighted disrupted transcriptional coordination in tumors. This work establishes a multidimensional epigenetic framework for PTC with combinatorial diagnostic signatures and condition-specific associations between DNA modifications and driver mutations (BRAF vs. RAS).

Altered expression of MMR proteins appears to be involved in key aspects of ameloblastoma biology, including genomic stability, tumor proliferation, and recurrence risk. Further studies are needed to clarify the potential role of MMR dysregulation as a clinically relevant biomarker in ameloblastomas.

Due to limited germline and epigenetic data, MSI-H tumors could not be classified as Lynch-associated or sporadic. Overall, MSI-H and MSS CRCs in the Chinese population demonstrate distinct molecular landscapes in terms of TMB, HRD, EBV status, and driver gene alterations, underscoring the molecular heterogeneity of MSI-H CRC and the need for future studies integrating germline and epigenetic data to refine subtype classification.

P1/2, N=155, Completed, Pfizer | Active, not recruiting --> Completed

LoY is a frequent chromosomal alteration in metastatic CRC and appears enriched in rectal primary tumors in our cohort. Its association with clinical outcome may depend on disease stage, molecular background, and analytical methodology. These findings support further investigation of Y chromosome loss as a context-dependent biomarker in CRC.

In this cohort, BRAF-mutant AML patients had poor overall survival with currently available treatments, including venetoclax-based regimens. Drug sensitivity data suggest possible avenues for targeted treatment of BRAF-mutated AML.

Mutational signatures included chromosomal instability and chromothripsis. There was a robust ancestry-related difference in tumor evolutionary dynamics where African ancestry was correlated with more genome doubling and clonality with less evolutionary branching.

P1, N=18, Recruiting, Joint Biosciences Ltd.