PLAG1 (PLAG1 Zinc Finger)

Revisiting her history revealed a diagnosis of a benign salivary gland tumor in the left parotid, which was surgically removed almost 40 years ago. This piece of clinical information put the morphology into perspective and subsequent molecular testing detected an unusual PLAG1 gene rearrangement, confirming the diagnosis of a benign metastasizing PA in this unique case.

They also represent the first PLAG1 fusions identified in pediatric supratentorial ependymal tumors. These cases highlight the value of integrating histology, methylation profiling, and fusion detection, and suggest a new candidate supratentorial ependymal subtype with PLAG1 fusions, pending validation in larger series.

Overexpression of the IRX5 gene in human MOLM13 leukemic cells suppressed cell growth both in vitro and in mouse xenografts. Public patient data confirmed expression levels of PLAG1 and SMAD1 as markers of AML status and survival, suggesting that multiomic analysis of evolving clones in a mouse model is a valuable predictive approach relevant to human AML.

This study revealed uterine leiomyoma subtypes to have distinct chromosomal aberration landscapes. Our large sample collection, detailed subclassification and extensive expression data integration enabled the identification of rare aberrations and subtype-specificity not previously feasible. Further research is implicated in studying the recurrently aberrant regions to identify the specific targets. This study shows, once again, the benefits for accurate subtype information in leiomyoma research and provides a new framework for further studies - towards comprehensive knowledge on the tumorigenesis and potential subtype-specific diagnostic and therapeutic strategies.

Lipoblastomas, though benign and less commonly seen, are challenging since they require high clinical suspicion to differentiate lipoblastoma from liposarcoma in pediatric soft tissue masses. Surgical excision is the definitive treatment, and vigilant postoperative monitoring is mandatory to obviate the risk of recurrence.

This case highlights the diagnostic complexity of acral adnexal tumors with overlapping morphologic features. Molecular testing, such as next-generation sequencing, can be an essential adjunct in distinguishing between morphologically similar adnexal neoplasms, thereby guiding accurate diagnosis and management.

The present study reports four cases of pleomorphic adenoma characterised by abundant lymphoid stroma and HMGA2 rearrangements, for which transcriptomic analysis found that the lymphoid stroma shared a profile similar to that observed in lymphadenomas. Given this distinctive morphological and molecular feature, we propose the designation "lymphadenoma-like" for this novel subtype of pleomorphic adenoma.

This case underscores several diagnostic challenges: (1) histology from the primary lesion initially suggested a benign tumour, discordant with aggressive radiological features; (2) ancillary molecular testing with PLAG1 FISH was critical in linking the primary PA with metastatic carcinoma; and (3) HER2 overexpression and androgen receptor positivity highlighted potential therapeutic targets, though the rapid disease course precluded treatment. Correlation of imaging, histology, cytology, and molecular studies is crucial, particularly when biopsy findings appear discordant with clinical behaviour.

Comprehensive SalvGlandDx v2 RNA sequencing demonstrated high feasibility and substantial diagnostic and clinical utility in salivary gland tumors, resolving morphological and immunohistochemically ambiguous cases. In a subset of patients, use of the analysis also influenced clinical management highlighting the value of integrating RNA sequencing into routine diagnostic work-up of the varied and challenging salivary gland tumors.

FET-rearranged MET are epigenetically unrelated to cutaneous and salivary gland MET, and their malignant counterparts are best classified as sarcomas rather than carcinomas.

WGS provides a comprehensive view of the cancer genome, suitable for tumors driven by both single nucleotide variants, SVs, and CNAs. The choice between platforms should be guided by clinical context, diagnostic needs, and available resources.

Serum-based fatty acid and purine metabolism pathways are associated with OS and PFS in GB. 7-HOCA and p-cresol emerged as potential biomarkers linked to treatment response and molecular subtype. These findings support further investigation of noninvasive biospecimens for clinically actionable biomarkers in GB.