CDKN2A deletion

Integrated profiling of TETs reveals distinct genomic, transcriptomic, and immune features across subtypes of TETs and identifies potentially actionable therapeutic targets that may inform future treatment strategies.

Post-operative re-RT appears to be associated with enhanced survival and minimal toxicity in patients with rGBM following temozolomide chemoradiation. Our study suggests a novel clinicogenetic criterion for re-RT after re-OP in rGBM, which requires further validation.

Adult Ph+ ALL in this multi-ethnic cohort exhibited marked genomic heterogeneity, with frequent submicroscopic alterations detectable only through integrated genomic profiling. Comprehensive genomic characterization is needed to better understand leukemogenesis and refine risk stratification.

About 20% of hepatobiliary carcinomas showed MTAP expression loss, which may benefit from MTAP-directed therapies. MTAP expression loss may be a diagnostic marker for malignant hepatobiliary tumors. MTAP-deleted CCAs and cHCC-CCAs may represent a distinct group of hepatobiliary tumors.

Metastatic EMPD exhibits distinct clinicopathologic and molecular features, including high AR and HER2 expression, TP53 and CDKN2A/B alterations, and similarity to systemic HER2+ malignancies. The observed activity of HER2-directed therapies in this cohort suggests the potential value of further investigating biomarker-guided treatment strategies in metastatic EMPD. NGS-guided profiling may inform precision treatment strategies, including AR-targeted therapy and emerging MTAP-directed approaches.

Taken together, the repertoire of genetic alterations in primary and metastatic/recurrent MPTs shows overlap, and CDKN2A/2B homozygous deletions may play a role in progression. Additionally, molecular profiles of MPTs may vary according to genetic ancestry and MED12 mutational status.

Most patients followed an aggressive clinical course, including metastases and disease-related mortality. These findings expand the spectrum of sarcomas driven by FGFR gene fusions, underscoring the importance of molecular testing for accurate diagnosis and potential targeted therapy in high-grade sarcomas with myogenic features.

P1/2, N=60, Active, not recruiting, Servier Bio-Innovation LLC | N=342 --> 60 | Trial completion date: Oct 2031 --> May 2027 | Trial primary completion date: Oct 2031 --> May 2027 | Recruiting --> Active, not recruiting

OGM revealed multiple clinically relevant structural variants and partner genes impacted in adult T-lymphoblastic leukemia that were not part of the standard cytogenetic workup, thereby improving genomic characterization and risk assessment. Identification of alterations involving FBXW7, NOTCH1, TLX3::BCL11B, PHF6, MYB, and CDKN2A provided a comprehensive genomic profile that informed counseling regarding prognosis and supported treatment selection. Integrating OGM into routine evaluation of myeloid and lymphoid neoplasms has the potential to streamline diagnostic workflows and ensure that disease-defining aberrations critical for diagnosis, prognosis, and targeted therapy selection are not overlooked.

MTAP-deleted thoracic tumors exhibit reproducible clinical and molecular features across populations. Our findings support the rational, globally applicable development of MTAP-targeted synthetic lethal strategies in thoracic malignancies, particularly in combination with molecular targeted agents.

Risk stratification based on histological grade and CDKN2A/B status effectively predicted survival outcomes following recurrence. In conclusion, CDKN2A/B status, alongside histological grading, represents an independent prognostic indicator in recurrent IDH-mutant astrocytoma.

Death due to disease or therapy-related complications occurred in 4/8 (50%) cases in the SWI/SNF-deficient group and 6/7 (86%) of cases in the SWI/SNF-intact group. Our findings expand the knowledge of the clinicopathologic and molecular features of pediatric PTCL and highlight SWI/SNF-deficient T-cell lymphoma as a biologically distinct type of PTCL that is associated with characteristic clinicopathologic features.