ASPSCR1 (ASPSCR1 Tether For SLC2A4)

Given their ability to mimic one another as well as more common RCC subtypes, we present a review here that summarizes relevant morphologic, immunohistochemical, and molecular findings as well as a practical approach to diagnosis. Accurate diagnosis of TFE-altered RCCs is critical to provide patients and treating clinicians with pertinent prognostic information and inform treatment decisions in the event of advanced disease.

This paper systematically reviews the epidemiological profile, histopathological diagnostic criteria, molecular genetic mechanisms (notably the ASPSCR1-TFE3 gene fusion), immunophenotypic features, and differential diagnosis of ASPS. By integrating insights from multi-omics technologies, we explore the potential of personalized diagnostic and therapeutic strategies to improve disease comprehension and refine clinicopathological diagnostic standards, thereby guiding clinical management and enhancing patient outcomes.

This case highlights the occurrence of ASPS in an older-than-typical patient and underscores the enduring reliability of classic histopathology for definitive diagnosis in resource-limited settings like Uganda. Although surgically cured locally, the patient's large tumor size and age confer a high risk for future metastasis, mandating rigorous, long-term surveillance.

Taken together, tRCC fusion proteins upregulate B7-H3 expression via increased mTOR signaling, resulting in a higher tumoral B7-H3 expression compared to normal kidney or conventional RCC, suggesting that B7-H3 may be a promising therapeutic target in tRCC.

Following the identification of the characteristic der(17)t(X;17)(p11;q25) translocation and discovery of the resulting ASPSCR1::TFE3 gene fusion in 2001, the current consensus is that alveolar soft part sarcomas represent one of several gene fusion-driven sarcomas which lack a normal cellular counterpart. This updated review highlights the clinical and pathologic features of this intriguing neoplasm.

Exemplars included KEAP1 and CDKN2A (tobacco), ASPSCR1 and PGR (obesity), and a smaller diabetes signal led by MAF. Tobacco dependence is associated with a more mutagenic and distinct somatic mutation profile in colon cancer, suggesting fundamental differences in behavioral mechanisms of carcinogenesis.

The patient underwent multiple systemic treatments over approximately 30 months, including tyrosine kinase inhibitors, an mTOR inhibitor (sirolimus), and immune checkpoint inhibition (pembrolizumab), alongside multiple courses of radiotherapy. This case highlights the critical role of histopathological and molecular confirmation, multidisciplinary care, and emerging targeted and immunotherapy approaches in pediatric ASPS. Collaborative multicenter trials are urgently needed to establish evidence-based treatment strategies for this challenging disease.

In this study, we successfully constructed a 6-gene acetylation-associated risk model for luminal breast cancer, providing a new direction and evidence for personalized treatment. Our results also suggested that KAT2B and TAF1L might serve as potential therapeutic targets in luminal breast cancer.

This case may represent a novel intraspinal neoplasm entity that expands the spectrum of ASPSCR1::TFE3-rearranged neoplasms by unique histopathological features and potential neural differentiation. We named this case as intraspinal ASPSCR1::TFE3 rearranged tumor with SOX10 expression.

Our results suggest that GPNMB IHC is an effective screen for TFE3-RCC and TFEB-RCC. Additionally, we report a RCC harboring a novel SYNRG::TFEB fusion.

Although study of additional cases is necessary, these findings suggest that the downstream effects of TFE3-rearrangement are different in PHF1::TFE3-rearranged OFMTs, compared to other known TFE3-rearranged neoplasms. TFE3-rearranged OFMTs are epigenetically distinct, implying that the impact of TFE3-rearrangement may be lineage-dependent.

Similar to adult tumors, pediatric/adolescent TFE3-RCCs with ASPSCR1::TFE3 fusion displayed higher expression of angiogenesis, proliferation, and stroma gene signatures and responded favorably to anti-PD1 plus tyrosine kinase inhibitor combination therapy. This study provides comprehensive insights into the genomic and transcriptional features of pediatric/adolescent TFE3-RCCs, suggesting the importance of transcriptional signatures and the potential therapeutic strategies tailored for this population.