RET mutation

Over 16 months of pralsetinib therapy, we found that the patient achieved sustained therapeutic benefits, specifically characterized by symptomatic relief, significant reduction in hormone levels, and shrinkage of the left adrenal masses. These findings indicate that pralsetinib is effective and safe for treating pheochromocytomas associated with RET missense mutation, but further clinical practices are warranted to confirm its efficacy and safety profile.

Approximately 40% of PPGL harbor germline mutations, whereas somatic alterations account for additional subsets. Mutations in SDHx, VHL, RET, NF1, and other susceptibility genes define molecular clusters with distinct signaling pathways and clinical behavior, underscoring the importance of multidisciplinary, lifelong management.

P3, N=1021, Active, not recruiting, Gilead Sciences | Recruiting --> Active, not recruiting

P=N/A, N=15, Not yet recruiting, West China Hospital of Sichuan Universit; West China Hospital of Sichuan Universit

P2, N=52, Not yet recruiting, West China Hospital of Sichuan University; West China Hospital of Sichuan University

P1, N=48, Not yet recruiting, West China Hospital of Sichuan University; West China Hospital of Sichuan University

P1, N=500, Not yet recruiting, Sun Yat-sen University Cancer Center; Sichuan Baili Pharmaceutical Co., Ltd.

The standard management remains surgical resection, with tyrosine kinase inhibitors (TKIs) in RET mutation-positive or RET mutation-negative metastatic cases and/or Lutathera peptide receptor radionuclide therapy (PRRT) used in disseminated disease, and external beam radiotherapy for locally aggressive or infiltrative retaining a limited role...Of the 80 MTC patients reviewed, this case series highlights 10 atypical presentations in nine cases : 3 unusual tumors along with MTC, namely chondrosarcoma, carcinoma prostrate, and ectopic Cushing's syndrome; 4 unusual associations or presenting manifestations: pneumoconiosis masquerading as lung metastasis, Marfanoid habitus in MEN-2A and VHL spectrum disease, 1 with skull metastasis, and 2 cases with TKI-related complications in the form of glomerulonephritis and one patient displayed Marfanoid habitus with a RET mutation but without MEN2B or fibrillin gene mutation, while another developed bowel perforation secondary to lenvatinib therapy emphasizing diagnostic and therapeutic challenges and rare tumor associations...Management of MTC remains complex due to therapy-related complications and resistance. Molecular diagnostics enable better risk stratification and personalized care.

This deep learning model demonstrated excellent performance in multi-omics subtype predictions. In, conclusion, this study systematically elucidates the molecular heterogeneity of LUAD through a multi-omics integration strategy, establishes a clinically relevant molecular classification system, and provides a theoretical foundation for developing personalized treatment plans for LUAD.

P1/2, N=266, Recruiting, Beijing Tide Pharmaceutical Co., Ltd

This approach resulted in unprecedented survival outcomes: the 72-month overall survival dramatically exceeds the median OS of less than 12 months reported for advanced PSC, and the patient maintained a progression-free survival of over 37 months on combination therapy, surpassing historical PFS benchmarks. This case provides a clinically actionable framework for managing multi-driver mutated, immunoresistant PSC.

Among them, patients with BRAF and K-RAS gene mutations are usually accompanied by positive expression of ER and PR, suggesting that these patients may benefit from endocrine therapy. In addition, PD-L1-mediated immunotherapy has broad application prospects in this tumor, female patients may benefit more, and immunotherapy combined with endocrine therapy is expected to become a good adjuvant treatment option for female cases.