Rosa Álvarez

Background: Management of sarcoma in expert centers (SECs) improves outcomes, and patient advocacy groups provide information, support, and representation of patients’ needs; however, access to both remains uneven. We aimed to identify factors associated with patient referral and advocacy group awareness in Spain and Portugal, 2 universal healthcare systems with distinct sarcoma pathways. Materials and Methods: Between April and December 2023, we conducted a survey-based study of adults with sarcoma under active treatment or follow-up across 9 Spanish hospitals (5 SECs) and one Portuguese hospital. Sociodemographic and clinical data, referral patterns, and advocacy group awareness/contact were analyzed. Results: A total of 415 patients were included (Spain, n = 365; Portugal, n = 50). In Spain, lower income (odds ratio [OR] 2.38; 95% CI, 1.16-5.03) was associated with longer diagnostic delays. Rural residence (OR 3.48; 1.79-7.04) and longer diagnostic delays (OR 2.41; 1.26-4.66) were associated with referral to other hospitals. Cancer advocacy group awareness was lower among patients with lower income (OR 0.38; 0.17-0.81) and higher with longer diagnostic delays (OR 2.08; 1.05-4.25). Sarcoma-specific advocacy group awareness was generally low (20%) but higher with university education (OR 4.27; 1.56-12.35). Few patients contacted cancer (14%) or sarcoma-specific groups (7%); contact was more frequent with longer diagnostic delays (OR 2.27; 1.11-4.63) or symptomatic presentation (OR 2.50; 1.04-5.97). Compared with the Portuguese cohort, Spanish patients were referred less frequently and had greater awareness of advocacy groups. Conclusion: Socioeconomic disparities affect sarcoma diagnosis, referral, and advocacy group engagement, even within universal healthcare systems. Equity-oriented care requires timely SEC referral and advocacy group visibility.

Background: Uterine sarcomas represent a small and heterogeneous subgroup of uterine malignancies (accounting for less than 5%), characterized by high biological aggressiveness, high recurrence rates, and diagnostic complexity; surgical management remains the cornerstone of treatment and, consequently, the primary determinant of patient prognosis. Objective: This review synthesizes current evidence regarding the accurate diagnosis and appropriate surgical management of the main histological subtypes of uterine sarcoma across different stages, within a multidisciplinary therapeutic framework. Methods: A comprehensive narrative review was conducted using recent publications from major biomedical databases, with an emphasis on studies exploring surgical outcomes, molecular profiling, therapeutic strategies, and survival patterns. Results: Leiomyosarcoma and endometrial stromal sarcoma represent more than 80% of histological subtypes, with histological grade being the factor of greatest prognostic significance. Complete disease resection, without tumor fragmentation and with negative surgical margins, is the undisputed standard objective. Variations from the standard treatment—en bloc total hysterectomy with bilateral salpingo-oophorectomy—exist depending on histology and tumor staging. Conclusions: Individualized surgical treatment tailored to the specific histological subtype, combined with multimodal treatment strategies based on accurate tumor staging, molecular characterization, and recurrence patterns, is essential to improve survival. Such management should be conducted in referral centers with expertise in treating these rare and fearsome malignancies.

Background: Desmoid tumors (DTs) are rare, locally aggressive fibroblastic neoplasms with highly heterogeneous clinical behavior. The present work constitutes the second part of a two-part project, following our previously published multidisciplinary review of the diagnostic and therapeutic landscape of DTs. It provides a comprehensive analysis of our institutional experience as a national reference center for sarcoma. We aim to describe real-world diagnostic pathways, management strategies, and clinical outcomes in a high-volume cohort. Methods: We conducted a retrospective cohort study that included patients diagnosed with DT at our center between 2014 and 2024. Demographic, clinical, molecular, treatment, and outcome data were collected. Management strategies were analyzed according to tumor location, symptoms, progression patterns, and multidisciplinary decision-making. Outcomes included response rates, event-free survival (EFS), need for active treatment, response to systemic therapy, and recurrence after local treatments. Results: A total of 109 patients were included (median age 36.8 years; 56.9% women). Somatic CTNNB1 mutations were identified in 23 of 29 tested patients, predominantly T41A, while germline alterations were found in 18 patients, mainly in APC. Initial management was conservative in 40.4% of patients and active in 59.6%, primarily through surgery. After a median follow-up of 41.5 months, 44.9% of patients experienced disease progression. Among patients managed with active surveillance, spontaneous regression occurred in 22.2%, and 58% remained treatment-free. Surgical relapse occurred in 35.8% of patients undergoing upfront resection, with major postoperative complications limited to externally operated cases. Cryoablation achieved radiological responses in most evaluable patients, while systemic therapies showed clinical activity but relevant toxicity, particularly with tyrosine kinase inhibitors. The median EFS for the whole cohort was 57 months. Conservative initial management and R1/2 surgical margins were independently associated with worse EFS. Conclusions: Our results support a personalized, multidisciplinary management strategy for DTs, prioritizing conservative approaches when appropriate and reserving active treatments for progressive or symptomatic disease. Outcomes achieved in a specialized referral center are comparable to those reported in large international retrospective series, underscoring the value of expert multidisciplinary care in optimizing DT management.

Background/Objectives: Primary cardiac sarcomas are rare and aggressive tumors. Management is often guided by evidence from other sarcoma types due to limited disease-specific data. This study aimed to analyze the clinical characteristics, pathology, treatment, and outcomes of primary cardiac sarcomas at a national referral center in Spain. Methods: We conducted a retrospective, observational, single-center study from February 2017 to December 2024. Patient data were collected from medical records, and a descriptive analysis was performed. Results: Twelve patients were identified (58% female; median age 43 years, range 13–76). Dyspnea was the most common symptom (8/12, 67%), and the right atrium was the most frequent tumor site (6/12, 50%). Angiosarcoma was the predominant histologic subtype (6/12, 50%). Seven patients had localized disease at diagnosis. Surgery was performed in six patients, with complete (R0) resection in two. Two patients received adjuvant chemotherapy, one underwent cardiac transplantation, and one received sequential chemo- and radiotherapy. All patients experienced tumor recurrence, with a median recurrence-free survival of 5 months (95% CI, 1.5–8.6). Median overall survival for localized disease was 22 months (95% CI, 16–28). Five patients were metastatic at diagnosis, and 11 of 12 developed metastases. Median progression-free survival for first-line therapy was 5.9 months (95% CI, 1.8–9.9), and median overall survival for advanced disease was 12 months (95% CI, 10–13.6). Conclusions: Complete surgical resection was rarely achieved, and recurrence was universal. Outcomes remained poor even for localized disease, highlighting the limited efficacy of current therapies and the need for improved multimodal treatment strategies.

Background/Objective: The vascular endothelial growth factor (VEGF) signaling pathway induces angiogenesis, which impacts tumor progression and clinical outcomes in patients with localized osteosarcoma. This study evaluates whether genetic polymorphisms in the VEGF signaling pathway are associated with survival outcomes in these patients. Methods: Sixty-nine patients with localized high-grade osteosarcoma enrolled in the GEIS-33 protocol and treated with MAP (methotrexate, doxorubicin, cisplatin) chemotherapy, surgery, and subsequent adjuvant treatment were included. Nine variants of interest in the VEGFA (rs1570360, rs2010963 and rs699947), FLT1 (VEGFR1; rs7993418, rs9513070 and rs9582036), and KDR (VEGFR2; rs1551641 and rs1870377 and rs2071559) genes were genotyped from peripheral blood samples using TaqMan Assay technology. Genetic data were correlated with relapse-free survival (RFS) and overall survival (OS) considering clinical variables as covariates. Results: The analyses showed nominally significant associations between the FLT1 variants rs7993418 and rs9582036 and survival. Patients carrying the rs7993418(C) allele had worse RFS (p = 0.01) and OS (p = 0.01). Carriers of the minor rs9582036(C) allele also had worse RFS (p = 0.02) and OS (p = 0.03). Additionally, patients harboring the TT genotype of the KDR rs1551641 variant had significantly worse RFS (p = 0.002). These polymorphisms remained statistically significant in the multivariate Cox regression analyses that included surgical margins and pathological response as covariates. Conclusions: Pharmacogenetics may contribute to precision medicine in oncology. Germline polymorphisms in the VEGF pathway may be useful as predictors of survival in high-grade localized osteosarcoma patients treated with chemotherapy, following validation in a large cohort of patients. Current treatment strategies aimed at improving outcomes for osteosarcoma patients may benefit from the identification of new biomarkers, such as these FLT1 rs7993418 and rs9582036 variants.

Desmoid tumors (DTs), also known as aggressive fibromatosis, are rare neoplasms characterized by local invasiveness and a high risk of recurrence, despite their lack of metastatic potential. The management of these tumors remains challenging due to their unpredictable behavior and heterogeneous presentations. In this two-part study, we first provide a comprehensive review of the scientific evidence on diagnosis and emerging therapeutic strategies for DT. In the second part, we will present a retrospective analysis of our experience at a national reference center for sarcoma treatment, focusing on diagnostic strategies, therapeutic interventions, and clinical outcomes.

Soft tissue sarcomas (STSs) are a rare and highly heterogeneous group of tumours originating from mesenchymal cells, characterized by significant clinical and biological diversity. Due to this complexity, STSs present considerable challenges in both diagnosis and treatment, requiring an expert, multidisciplinary, and coordinated approach. To address these challenges, a multidisciplinary team of experts from the Spanish Group for Research in Sarcomas (GEIS) has developed a comprehensive, evidence-based consensus guideline that incorporates the latest advancements in biology, imaging techniques, and treatment options. The primary objective of this guideline is to provide clear and practical, up-to-date recommendations addressing the key questions that arise in the management of STSs. This approach aims to support therapeutic decision-making, enhance overall patient management, and ultimately improve clinical outcomes for patients affected by STSs. Key recommendations include the use of MRI as the preferred imaging modality prior to biopsy and ensuring that all patients are referred to specialised sarcoma centres with a multidisciplinary team for diagnosis and treatment.

Desmoid tumors (DTs), also known as aggressive fibromatosis, are rare neoplasms characterized by local invasiveness and a high risk of recurrence, despite their lack of metastatic potential. The management of these tumors remains challenging due to their unpredictable behavior and heterogeneous presentations. In this two-part study, we first provide a comprehensive review of the scientific evidence on diagnosis and emerging therapeutic strategies for DT. In the second part, we will present a retrospective analysis of our experience at a national reference center for sarcoma treatment, focusing on diagnostic strategies, therapeutic interventions, and clinical outcomes.