IDH2 (Isocitrate Dehydrogenase (NADP(+)) 2)

This case represents the first documented instance of primary gliosarcoma with FDCS differentiation, thereby expanding its known differentiation spectrum. Furthermore, it demonstrates the necessity of separately analyzing each histological component in the diagnosis of challenging cases.

In our analysis of post-MPN AMLs, we identified nine mutated loci across six genes (JAK2, IDH1/2, TP53, SRSF2, U2AF1) and linked these mutations to specific transcriptional phenotypes. Overall, LOTR-Seq provides novel insights into the evolution of post-MPN AML.

While CSF remains the optimal matrix for diagnosis and characterization, advances in ultrasensitive detection methods increasingly support the feasibility of plasma and urine for longitudinal follow-up. Integrating liquid biopsy with advanced imaging and tissue-based data will likely transform diagnostic accuracy, therapeutic decision-making, and real-time monitoring of CNS tumors.

Treatment with the OXPHOS inhibitor IACS-010759 suppressed the proliferation, migration, invasion, and metastasis of RNF43-mutant tumors. Our findings identify a RNF43-YBX1-MYC signaling axis associated with metabolic reprogramming in pancreatic cancer and suggest that OXPHOS inhibition may represent a potential therapeutic vulnerability in tumors with RNF43-inactivating mutations.

Treatments include surgery, radiation, and chemotherapy, with ongoing trials investigating agents like cetuximab, cisplatin, and Tazemetostat. Tazemetostat, targeting KMT2D-related DNA (deoxyribonucleic acid) methylation, and cetuximab, targeting the PIK3CA signaling cascade, may offer therapeutic benefits. Further research on mutation-specific therapies could improve treatment strategies.

This study provides clinical evidence for prognosis assessment in PHF6-mutated AML, enabling more precise risk stratification, individualized treatment, and further pathogenesis research.

P1, N=3, Completed, City of Hope Medical Center | Active, not recruiting --> Completed | Trial completion date: May 2027 --> Mar 2026 | Trial primary completion date: May 2027 --> Mar 2026

To our knowledge, this report is the first to describe a molecularly profiled CCC with somatic VHL inactivation. These results expand the evolving genomic spectrum of CCC beyond its previously known IDH-wildtype status and suggest that VHL pathway dysregulation may contribute to tumorigenesis in a subset of cases.

P1, N=11, Completed, Beijing Tiantan Hospital | Active, not recruiting --> Completed | Trial completion date: Dec 2028 --> Oct 2025

After four cycles of neoadjuvant therapy with carboplatin, albumin-bound paclitaxel and pembrolizumab, the tumor lesion regressed markedly...The patient was treated with an optimized quadruple anti-tuberculosis regimen (HZEM), and induction chemotherapy for AML with VA regimen (venetoclax plus azacitidine) plus revumenib, and supportive therapy...The overlapping clinical manifestations of the two concurrent diseases substantially increase diagnostic difficulty. Timely and thorough bone marrow examination, lymph node pathological biopsy and tuberculosis-specific screening are the keys to early and accurate diagnosis.

In conclusion, TFHL-associated B/PCP are a heterogeneous group of lymphoproliferative and plasma cell disorders, displaying recurrent histological patterns and frequent clonal hematopoiesis-associated mutations. Further studies on larger cohorts of patients are warranted to elucidate their biological and clinical implications.

Four of the most common subtypes, adenoid cystic carcinoma (ADCC), mucoepidermoid carcinoma (MEC), acinic cell carcinoma (ACC), and carcinoma ex pleomorphic adenoma (CXPA) have all methylation of RASSF1A, two (MEC and ADCC) also of TIMP3 and two (MEC and CXPA) of p16INK4a. A methylation landscape of 20 salivary gland tumours (SGTs) is nowadays available.