Desmoid Tumor Treated with Polychemotherapy Followed by Imatinib: A Case Report and Review of the Literature

Desmoid tumors, also known as aggressive fibromatosis, are tumors of intermediate dignity, which grow slowly but are locally aggressive. These tumors do not metastasize but can be potentially life threatening when infiltrating vital structures. The therapy strategy consists of surgery, radiation and systemic therapy with non-steroidal anti-inflammatory drugs, antiestrogen compounds and cytotoxic chemotherapy. We report on a 40-year-old male patient with advanced fibromatosis of the neck who has been treated with 7 cycles of polychemotherapy (adriablastin, ifosfamide and dacarbazine) followed by targeted therapy with imatinib. Tumor response was evaluated clinically and by magnetic resonance imaging. The tumor decreased significantly after the first cycle of chemotherapy and tumor-related symptoms declined. The response continued after switching to targeted therapy with imatinib, which is currently ongoing. The best treatment for this rare tumor remains under discussion. Doxorubicin and dacarbazine are frequently used agents. We included ifosfamide in our therapy, which is standard in the treatment of soft tissue tumors. The tyrosine kinase inhibitor imatinib seems to offer new possibilities and is currently investigated in randomized trials. We conclude that combination chemotherapy including doxorubicin, ifosfamide and dacarbazine in the treatment of aggressive fibromatosis should be considered for patients suffering from unresectable, advanced disease and clinical symptoms which require a rapid response to therapy

Artificial intelligence large language model ChatGPT: is it a trustworthy and reliable source of information for sarcoma patients?

IntroductionSince its introduction in November 2022, the artificial intelligence large language model ChatGPT has taken the world by storm. Among other applications it can be used by patients as a source of information on diseases and their treatments. However, little is known about the quality of the sarcoma-related information ChatGPT provides. We therefore aimed at analyzing how sarcoma experts evaluate the quality of ChatGPT’s responses on sarcoma-related inquiries and assess the bot’s answers in specific evaluation metrics.MethodsThe ChatGPT responses to a sample of 25 sarcoma-related questions (5 definitions, 9 general questions, and 11 treatment-related inquiries) were evaluated by 3 independent sarcoma experts. Each response was compared with authoritative resources and international guidelines and graded on 5 different metrics using a 5-point Likert scale: completeness, misleadingness, accuracy, being up-to-date, and appropriateness. This resulted in maximum 25 and minimum 5 points per answer, with higher scores indicating a higher response quality. Scores ≥21 points were rated as very good, between 16 and 20 as good, while scores ≤15 points were classified as poor (11–15) and very poor (≤10).ResultsThe median score that ChatGPT’s answers achieved was 18.3 points (IQR, i.e., Inter-Quartile Range, 12.3–20.3 points). Six answers were classified as very good, 9 as good, while 5 answers each were rated as poor and very poor. The best scores were documented in the evaluation of how appropriate the response was for patients (median, 3.7 points; IQR, 2.5–4.2 points), which were significantly higher compared to the accuracy scores (median, 3.3 points; IQR, 2.0–4.2 points; p = 0.035). ChatGPT fared considerably worse with treatment-related questions, with only 45% of its responses classified as good or very good, compared to general questions (78% of responses good/very good) and definitions (60% of responses good/very good).DiscussionThe answers ChatGPT provided on a rare disease, such as sarcoma, were found to be of very inconsistent quality, with some answers being classified as very good and others as very poor. Sarcoma physicians should be aware of the risks of misinformation that ChatGPT poses and advise their patients accordingly

Molecular profiling of soft-tissue sarcomas with FoundationOne® Heme identifies potential targets for sarcoma therapy: a single-centre experience

Background: Molecular diagnosis has become an established tool in the characterisation of adult soft-tissue sarcomas (STS). FoundationOne ® Heme analyses somatic gene alterations in sarcomas via DNA and RNA-hotspot sequencing of tumour-associated genes. Methods: We evaluated FoundationOne ® Heme testing in 81 localised STS including 35 translocation-associated and 46 complex-karyotyped cases from a single institution. Results: Although FoundationOne ® Heme achieved broad patient coverage and identified at least five genetic alterations in each sample, the sensitivity for fusion detection was rather low, at 42.4%. Nevertheless, potential targets for STS treatment were detected using the FoundationOne ® Heme assay: complex-karyotyped sarcomas frequently displayed copy-number alterations of common tumour-suppressor genes, particularly deletions in TP53 , NF1 , ATRX , and CDKN2A . A subset of myxofibrosarcomas (MFS) was amplified for HGF ( n  = 3) and MET ( n  = 1). PIK3CA was mutated in 7/15 cases of myxoid liposarcoma (MLS; 46.7%). Epigenetic regulators (e.g. MLL2 and MLL3 ) were frequently mutated. Conclusions: In summary, FoundationOne ® Heme detected a broad range of genetic alterations and potential therapeutic targets in STS (e.g. HGF/MET in a subset of MFS, or PIK3CA in MLS). The assay’s sensitivity for fusion detection was low in our sample and needs to be re-evaluated in a larger cohort

Risk stratification for venous thromboembolism in patients with testicular germ cell tumors

BACKGROUND:Patients with testicular germ cell tumors (TGCT) have an increased risk for venous thromboembolism (VTE). We identified risk factors for VTE in this patient cohort and developed a clinical risk model. METHODS:In this retrospective cohort study at the Medical University of Graz we included 657 consecutive TGCT patients across all clinical stages. A predictive model for VTE was developed and externally validated in 349 TGCT patients treated at the University Hospital Zurich. RESULTS:Venous thromboembolic events occurred in 34 (5.2%) patients in the Graz cohort. In univariable competing risk analysis, higher clinical stage (cS) and a retroperitoneal lymphadenopathy (RPLN) were the strongest predictors of VTE (p<0.0001). As the presence of a RPLN with more than 5cm in greatest dimension without coexisting visceral metastases is classified as cS IIC, we constructed an empirical VTE risk model with the following four categories (12-month-cumulative incidence): cS IA-B 8/463 patients (1.7%), cS IS-IIB 5/86 patients (5.9%), cS IIC 3/21 patients (14.3%) and cS IIIA-C 15/70 patients (21.4%). This risk model was externally validated in the Zurich cohort (12-month-cumulative incidence): cS IA-B (0.5%), cS IS-IIB (6.0%), cS IIC (11.1%) and cS IIIA-C (19.1%). Our model had a significantly higher discriminatory performance than a previously published classifier (RPLN-VTE-risk-classifier) which is based on the size of RPLN alone (AUC-ROC: 0.75 vs. 0.63, p = 0.007). CONCLUSIONS:According to our risk stratification, TGCT patients with cS IIC and cS III disease have a very high risk of VTE and may benefit from primary thromboprophylaxis for the duration of chemotherapy