IDH mutation + BRAF V600E

Across both diseases, circulating tumor DNA is emerging as a promising tool for prognostication, minimal residual disease assessment, response monitoring, and early resistance detection. Contemporary care increasingly depends on early molecular profiling, individualized treatment sequencing, and integration of targeted therapies, biomarker-guided immunotherapy, and clinical trials.

Genomic profiling reveals targetable alterations-IDH1/2 mutations, FGFR2 fusions, HER2 aberrations, BRAF V600E-driving the clinical success of specific inhibitors (ivosidenib, FGFR inhibitors, HER2-targeted ADCs/antibodies, dabrafenib/trametinib). However, overcoming tumor heterogeneity, resistance mechanisms, and optimizing combination strategies remain critical challenges. This paradigm shift towards molecularly guided therapies offers significant hope for improving BTC patient survival.

The IDH-mutant inhibitor vorasidenib has been demonstrated to prolong progression-free survival in grade 2 IDH-mutant glioma; however, there is a lack of evidence in patients younger than 18...Craniopharyngioma is a rare CNS tumor in the AYA population, and BRAFV600E mutations in papillary craniopharyngioma represent a targetable alteration. Solutions to improving the care of AYA should include appropriate representation in clinical trials and specialized care by experienced clinicians.

The review emphasizes that when interpreted alongside histomorphology and conventional markers, surrogate immunohistochemistry can significantly reduce reliance on molecular testing, expedite diagnosis, and improve accessibility of precision diagnostics. Standardization, validation, and awareness of pitfalls remain essential to maximizing their clinical utility in neuropathology practice.

Only one patient died 16 months after surgery due to an unrelated traffic accident.

Parallel translational work using cfDNA-based liquid biopsy has mapped a spectrum of secondary kinase-domain mutations that underlie acquired resistance, informing the development of next-generation FGFR2-selective inhibitors (eg, lirafugratinib) and combination strategies with EGFR/ERBB blockade. Collectively, these data underscore the need for comprehensive molecular profiling and innovative umbrella trial designs to optimise targeted therapy in this rare, biologically heterogeneous malignancy.

P=N/A, N=55, Not yet recruiting, Fuzhou University Affiliated Provincial Hospital; Fuzhou University Affiliated Provincial Hospital

Despite poor overall outcomes, incremental progress across targeted, immune, and delivery-based approaches supports a patient centered strategy emphasizing clinical-trial enrollment, molecular profiling and symptom focused care.

BTCs have been traditionally managed with gemcitabine and cisplatin (GC), but this standard of care has shown limited efficacy due to early recurrence, high resistance rates, and molecular heterogeneity...Additionally, novel regimens including nanoliposomal irinotecan and dual ICI combinations represent viable second-line options...Personalized treatment guided by molecular characteristics is now central to improving outcomes. Future efforts must prioritize the identification of biomarkers, clarification of resistance mechanisms, and optimization of multimodal treatment strategies to maximize patient benefit.

This review will highlight the molecular and genetic underpinnings of these tumors and how targeted therapeutic strategies led to the US Food and Drug Administration's approvals of combination therapy with dabrafenib and trametinib for pediatric patients with BRAF V600E mutant low-grade glioma; tovorafenib, a pan-RAF inhibitor, for pediatric BRAF mutant glioma; and vorasidenib, an inhibitor of mutant IDH1/2 enzymes, for patients with mutant IDH low-grade glioma. Integration of these targeted therapies into currently accepted treatment paradigms remains to be fully understood, along with the long-term impact on patient quality of life and prognosis.

For adjuvant treatment, capecitabine (based on the BILCAP trial) and S-1 (from the ASCOT trial) have become standard regimens. Neoadjuvant therapy using gemcitabine-platinum combinations and locoregional strategies such as hepatic artery infusion chemotherapy (HAIC) and yttrium-90 radioembolization (Y-90 TARE) have improved resectability and survival outcomes...FGFR2 fusions, IDH1 mutations, and BRAF V600E mutations can be targeted with inhibitors such as pemigatinib, ivosidenib, and dabrafenib-trametinib, respectively, showing promising response rates in clinical trials...Combination strategies involving PD-1 inhibitors with radiotherapy or anti-angiogenic agents are further expanding the potential for treatment. Future efforts should focus on standardizing resectability criteria, expanding access to molecular profiling, and accelerating Phase III trials.

The final diagnosis was pDLGG with alterations in the MAPK pathway. The present case underscores the importance of molecular and histological features in the diagnosis of pDLGG, especially when clinical and imaging characteristics are atypical, as molecular diagnostics provide key insights for disease classification.