Sarcoma

Patients with NF1 can develop a variety of gastrointestinal lesions. Appendiceal neurofibroma can be difficult to diagnose preoperatively and differentiate from malignancy. Hence, surgical resection should be considered.

In this updated exploratory analysis from INTRIGUE, OS was longer for ripretinib vs sunitinib for pts with KIT exon 11 + 17/18 mutations identified by baseline ctDNA. The safety profile was consistent and more favorable for ripretinib vs sunitinib in these pts. Previously presented at the 2024 ESMO Sarcoma and Rare Cancers Congress.

In conclusion, this study disclosed that CD93 aggravated cell proliferation, angiogenesis and immune escape in osteosarcoma through triggering the PI3K/AKT pathway. This work may supply useful opinions of CD93 on the cure of osteosarcoma.

Finally, we demonstrated that SMARCB1 re-expression increased cytoplasmic localization of these mRNAs and that gene encoding these transcripts were bound by SMARCA4 and SMARCC1. In conclusion, this study reveals that the loss of SMARCB1 in rhabdoid tumors has specific consequences on mRNAs translation with potential to unveil new dependencies.

This raises a possible nosological relationship between TSADUDT and SMARCA4/A2 deficient NSCLC. Increased understanding of the genetics, epigenetics, and mechanisms of oncogenesis in these poor prognostic tumors, which are often resistant to conventional treatment, opens a new horizon of therapy for the tumors.

Collectively, these findings highlight the detrimental impact of aristolochic acids on local renal circadian clocks, ultimately exacerbating kidney damage. This study provides novel insights into the molecular mechanisms underlying AAI nephrotoxicity, potentially opening avenues for therapeutic interventions aimed at modulating the renal circadian clock to treat AAN.

Our study elucidated that lncRNA GClnc1 participates in the progression of OS by regulating the NONO signal pathway. Targeting GClnc1 provides a potential target for future clinical treatment of OS.

Our findings confirm the distinctive clinicopathological features of this very rare, recently described entity and expand its molecular genetic spectrum. Reflecting these findings, we propose modifying the name of this entity to "superficial neurocristic FET::ETS fusion tumor".

In summary, this research highlights the influence of PFOA on diverse biological processes, including reproduction, feeding behavior, starvation resistance, locomotion, and sleep activity in Drosophila. It also highlights the ability of PFOA to alter BMAL1 expression patterns in human osteosarcoma cells with deleterious effects.

Despite initiating hepatic arterial infusion chemotherapy, the tumor continued to grow, and the patient's poor performance status complicated the transition to a phase I KRAS mutation drug trial, leading to death eight months after the symptom onset. A timely genetic mutation analysis may facilitate effective treatment transitions in hepatic UPS despite the lack of established treatments.

These findings offer new directions for the treatment of osteosarcoma, suggesting that CORO6 could be a novel prognostic biomarker and an effective therapeutic target for patients. In summary, CORO6, as an oncogene, plays a key role in the development of osteosarcoma, providing a crucial theoretical basis for the development of new osteosarcoma treatment strategies.

Furthermore, treatment of OSCs with cisplatin (CIS) or doxorubicin (DOX) resulted in preserved mitochondrial morphological stability, which was not observed in non‑OSCs. These findings unveil a novel mechanism underlying chemoresistance in osteosarcoma and suggest that targeting DRP1 could be a promising therapeutic strategy to overcome chemoresistance in OSCs. This provided valuable insights for enhancing treatment outcomes among patients with osteosarcoma.

We also performed methylation classification using nanopore-based methylation data to successfully categorize the tumor as AS. This case report highlights the potential utility of nanopore sequencing in the diagnosis of sarcomas.

Infiltrating lipomas, while benign, can mimic malignant adipocytic tumors such as atypical lipomatous tumors (ALTs) and well-differentiated liposarcomas (WDLS), complicating diagnosis. This case underscores the importance of combining histopathology, immunohistochemistry (IHC), and molecular testing, particularly murine double minute clone 2 (MDM2) amplification, to distinguish between benign and malignant tumors.

The patient underwent a multimodal treatment approach, including bladder-preserving surgery, 12 cycles of high-dose MRTK-2020 neoadjuvant chemotherapy [comprising actinomycin D, vincristine, doxorubicin, cyclophosphamide (AVDC), ifosfamide, carboplatin, and etoposide (ICE)], followed by adjuvant radiotherapy. Despite the limited evidence base, bladder-preserving surgeries, when feasible, should be considered and accompanied by adjuvant therapies for optimal outcomes. This case illustrates the potential for successful treatment of pure MRTs of the bladder using a combination of surgery, chemotherapy, and radiotherapy.

We use cryo-electron microscopy and biophysical methods to determine the structural basis of ligand binding and pH-dependent dimerization of Sev, and we discuss the implications in the process of Sev activation. The Sev human homolog, receptor oncogene from sarcoma 1 (ROS1), is associated with oncogenic transformations, and we discuss their structural similarities.

A good knowledge of the usual histomorphology, uncommon variants and diagnostic pitfalls remains essential even in centres with access to a full molecular testing arsenal. This review aims to give an overview of the current classification of USRCS not by going over each entity, but instead going over the molecular, morphological, immunophenotypic and clinical features step by step to allow easy comparison of these features between the separate entities.

Finally, we functionally validate a candidate extracellular matrix protein, periostin (POSTN), in human MPNST. This work provides insight into how the microenvironment may regulate MPNST initiation and progression.

A positive feedback loop is formed among FUS, circZEB1, miR-128-3p and LBH in GSCs. Our study uncovers a critical role of circZEB1 and provides a novel biomarker for treating GBM.

This MYOD1 mutant cohort demonstrates increased MYOD and reduced MYF4 immunostaining, high risk of local failure and poor survival in agreement with other studies. Increased treatment intensity and improved local control should be considered for these patients.

The study concludes its action against bone OS cells was significant with apoptotic induction. Stevia has a wide range of health benefits as well as being a plant-based diet it has less of side effects and promoting features even by intaking it daily along with other medicines.

This case demonstrates the ambiguity of the CMF presentation, the accurate diagnosis of which may frequently rely on additional diagnostic measures, including histopathology and targeted genetic tests. Furthermore, this report illustrates an atypical diagnostic journey, from an initial neuroma through a low-grade osteosarcoma, to a final benign chondromyxoid fibroma.

These cases highlight the importance of individual management and surveillance, as genotype alone may not predict clinical outcomes. They also underscore the need for further research into factors that influence FAP expressivity.

In this chapter, we provide straightforward methodologies to isolate DCs from murine bone marrow (bone marrow-derived DCs, BMDCs), induce immunogenic apoptosis in murine MCA205 fibrosarcoma cells using ICD inducer mitoxantrone (MTX), co-cultivate BMDCs with the MTX-treated cancer cells, and to assess the activation and maturation status of BMDCs by flow cytometric-assisted quantification of co-stimulatory molecules (MHC II, CD86, CD80) expressed on the plasma membrane of BMDCs. With minor adjustments, the same protocol can be implemented to other cancer cell lines or to analyze the phenotypic status of non-professional APCs.

ctDNA-based analysis facilitates assessment of disease status and genomic profiles, thus potentially assisting in identifying optimal therapeutic strategies for advanced GIST patients.

MutPTEN vs wtPTEN was associated with worse OS in advanced STS. If confirmed, our findings could be helpful for prognostic stratification in clinical practice and for further understanding the molecular mechanisms of STS.

The combination of Panobinostat with Doxorubicin or Etoposide, both of which are used as standard of care in upfront treatment, leads to a synergistic effect in EWS cells. Overall, our data indicate that HDAC2 is overexpressed in many EWS tumor samples and HDAC inhibition is effective in targeting EWS cells, alone and in combination with standard-of-care chemotherapy agents. This work suggests that the addition of an HDAC inhibitor to upfront treatment may improve response.

While TRPS1 remains a highly sensible immunohistochemical marker for confirming breast primary lesions, pathologists should be aware of its low specificity and incorporate complementary diagnostic methods in order to ensure accurate clinical management. Further research should focus on elucidating the molecular pathways regulating TRPS1 expression in various tumor types, which may better define its clinical utility.

Both EWS::FLI1 and CD99 are regulated targets of the DREAM complex, but the CD99 expression specifically impacted genes that are the targets of FOXM1 and are involved in the setting of the G2/M phase of the cell cycle. Most CD99-regulated FOXM1-targeted genes were found to correlate with bad prognosis in two public clinical datasets (R2 platform), further supporting the clinical relevance of CD99-mediated regulation of EwS gene expression.

Additionally, CD274 and PDCD1LG2 showed higher expression in osteosarcoma cell lines characterized by these genes. These findings may aid in the selection of effective immunotherapy for specific osteosarcoma patients.

After treatment with a variety of targeted and chemotherapy drugs, the patient showed a poor response with a survival time of merely 7 months. This case of USRCS harboring CIC-LEUTX fusion with renal involvement could help to expand our understanding on the diagnosis and treatment of CRS harboring CIC-LEUTX fusion.

The patient was treated with a chemotherapy regimen of pemetrexed and carboplatin. Mesothelioma with predominantly intrapulmonary growth is extremely rare and poses a diagnostic pitfall. For this entity, subtle morphological features, selection of immunohistochemical markers, and electron microscopy are of great significance for definite diagnosis.

The occurrence of orbital MS is infrequent, with atypical clinical and imaging findings. The diagnosis depends on pathomorphology and immunohistochemical staining, and the prognosis is good with postoperative adjuvant chemotherapy, local radiotherapy, and allo-HSCT.

Our findings provide insight on the clinical presentation and appropriate management of extraosseous ES, specifically in the ethmoid sinus in the adult population.

BMDCs are recruited to the lungs before metastases have developed. Dogs with OS may represent ideal candidates for assessing new PMN-targeting therapies.

P2, N=40, Active, not recruiting, National Cancer Institute (NCI) | Trial completion date: Dec 2024 --> Dec 2025 | Trial primary completion date: Dec 2024 --> Dec 2025

Downregulation of RBM15 repressed OS cell behaviors and tumorigenesis by decreasing MAT2A expression. In conclusion, MAT2A, regulated by RBM15-mediated m6A modification, accelerated OS malignant progression by increasing cell proliferation, metastasis and decreasing ferroptosis.

No abstract available

P1, N=78, Active, not recruiting, National Cancer Institute (NCI) | Trial completion date: Dec 2024 --> Dec 2025 | Trial primary completion date: Dec 2024 --> Dec 2025

Treatment of synovial sarcoma typically comprises local surgery, radiotherapy and chemotherapy, while novel managements such as immunotherapy, targeted therapies and epigenetic modifiers are explored. This review focuses on the recent studies of SS18-SSX fusion gene, epigenetic landscape, signaling pathways, diagnostic techniques, and relevant therapeutic advances, aiming to inhibit the oncogenic processes and improve outcomes for patients with synovial sarcoma.

Here, We report a case of paratesticular alveolar rhabdomyosarcoma in an adult patient who initially complained of increased scrotal volume for two years and presented with a PAX3-FOXO1 fusion. This emphasizes the dire prognosis of the disease, reinforcing the need for thorough and directed diagnostic efforts.

We also find that expression of C1-deleted CIC::DUX4 is capable of exerting intermediate transformation-related phenotypes compared with those imparted by full-length CIC::DUX4, but was not sufficient for tumorigenesis in a subcutaneous mouse model. In summary, our results suggest a supercharging role for the C1 domain in the activity of CIC::DUX4.