JAZF1 (JAZF Zinc Finger 1)

We suggest that HGESS with BCOR alterations may warrant reclassification as 'BCOR-altered uterine sarcomas'.

Moreover, the results of our study suggest that tumors with CTNNB1 mutation and GREB1::CTNNB1 fusion may exhibit identical morphology and potentially represent the same category of tumor. Characterization and reporting of additional cases are needed to determine whether these are part of the spectrum of low-grade endometrial stromal tumors (either endometrial stromal nodule or LGESS) or represent a separate category of tumors characterized by CTNNB1 alteration as a driver event.

Finally, in an activating NRAS-mutant (p.Q61R) HG-ESS xenograft, the combination of MEK and FAK inhibition dramatically suppressed tumor growth and prolonged survival, highlighting a promising targeted treatment strategy. Overall, our comprehensive analysis defines the molecular basis of ESS and provides a strong preclinical rationale for precision therapies in this aggressive cancer.

Beyond their diagnostic utility, these molecular signatures increasingly inform prognosis and highlight potential therapeutic targets, including CDK4/6 inhibition, PI3K/AKT/mTOR blockade, and immunotherapy. This review summarizes the evolving molecular landscape of uterine mesenchymal tumors, underscoring the value of integrating molecular testing into clinical practice to enhance diagnostic precision and enable personalized management of these rare yet clinically significant neoplasms.

Druggability analyses nominated several potential drug targets for PCa, such as HSPB1, RRM2B, and PSCA. Our findings reveal novel risk loci and candidate protein biomarkers, providing new etiological insights and potential avenues for PCa early detection and therapy.

We confirm a VK2-O dependent interaction between JAZF1 and Bak1 in live cells and unequivocally demonstrate that JAZF1 is essential for both the VK2ation of Bak1 and the subsequent VK2-induced apoptosis. These findings establish JAZF1 as an indispensable component of this newly characterized post-translational modification, substantially clarifying the molecular mechanism of VK2 function and advancing the development of VK2-based therapeutics.

This report underscores the propensity of low-grade endometrial stromal sarcoma to metastasize after a prolonged period of remission, in which the tumor exhibited sex cord and unique neuroendocrine differentiation. We also present a complex fusion in which the DLG5 gene acts as a 'filler' to maintain the in-frame configuration.

The patient was diagnosed with low-grade endometrioid stromal sarcoma and placed on adjuvant hormone therapy without clinical or imaging recurrence at 18-month follow-up. This case report underscores the utility of FISH as a potential confirmatory diagnostic tool in specimens of suspected extrauterine endometrial stromal sarcoma.

LG-ESS responds well to hormonal treatments such as aromatase inhibitors and progestins, while tamoxifen is contraindicated. HG-ESS, lacking hormonal receptor expression, is managed with chemotherapy, often incorporating doxorubicin-based regimens...HG-ESS is associated with poorer survival due to its aggressive nature. Advances in molecular profiling offer promising avenues for personalized therapies, integrating genomic insights with targeted treatments to improve outcomes in this rare malignancy.

It had diffuse immunohistochemical expression of CD10, CD34 and CD56, and variable expression of androgen receptor. To our knowledge, neoplasms with these clinico-pathologic characteristics and novel gene fusion have not been previously reported in the English language literature.

We systematically prioritized AD candidate causal genes based on cell type-specific molecular evidence. The integrative approach enhances our understanding of molecular mechanisms of AD-related genetic variants and facilitates the interpretation of AD GWAS results.

These six cases expand the histomorphological spectrum of ossifying fibromyxoid tumour, introducing lipomatous differentiation as a hitherto undocumented feature. Awareness of these rare variants will ensure appropriate diagnosis and clinical management.