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Background: Increased time to diagnosis in sarcoma is associated with poor prognosis and patient outcomes. Research is needed to identify whether opportunities to expedite the diagnosis of sarcoma in general practice exist., Aim: To examine pre-diagnostic GP clinical activity before sarcoma diagnosis., Design and Setting: An Australian retrospective cohort study using hospital registry data (Australian Comprehensive Cancer Outcomes and Research Database [ACCORD]) linked to two primary care datasets (Patron and MedicineInsight)., Method: The frequency of general practice healthcare utilisation events (general practice attendances, prescriptions, blood test, and imaging requests) were compared in 377 patients with soft tissue sarcoma (STS) and 64 patients with bone sarcoma (BS) in the year pre-diagnosis. Poisson regression models were used to calculate monthly incidence rate ratios (IRR) for the 24 months pre-diagnosis and estimate inflection points for when healthcare use started to increase from baseline., Results: In the 6 months pre-diagnosis, patients with sarcoma had a median of 3-4 general practice attendances, around one-third had a GP imaging request (33% [ n = 21] BS and 36% [ n = 134] STS), and approximately one in five had multiple imaging requests (19% [ n = 12] BS and 21% [ n = 80] STS). GP imaging requests progressively increased up to eight-fold from 6 months before sarcoma diagnosis (IRR 8.43, 95% confidence interval [CI] = 3.92 to 18.15, P <0.001) and general practice attendances increased from 3 months pre-diagnosis., Conclusion: Patients with sarcoma have increased GP clinical activity from 6 months pre-diagnosis, indicating a diagnostic window where potential opportunities exist for earlier diagnosis. Interventions to help identify patients and promote appropriate use of imaging and direct specialist centre referrals could improve earlier diagnosis and patient outcomes., (© The Authors.)

The collection of unique and diverse tumors known as soft-tissue sarcomas (STS) is hindered by a number of factors, such as delayed or inaccurate diagnosis, and a lack of clinical knowledge, and a restricted range of treatment alternatives. The tissues that surround, link, and support other body organs and structures are the target of a rare type of cancer known as soft tissue sarcomas. Muscle, fat, blood vessels, deep skin tissues, tendons, and ligaments are among the tissues that can be impacted by soft tissue sarcomas. Soft tissue sarcomas can arise in nearly every body component, including the arms, legs, and abdomen. The way that patients are treated medically is severely harmed by these diagnostic mistakes. Numerous machine learning models have been proposed by researchers to categorize cancers, but none of them have sufficiently addressed the issue of misdiagnosis. Furthermore, the majority of comparable research that has suggested models for the assessment of these malignancies do not take the heterogeneity and volume of the data into account. This research presents the comparison between machine and deep learning methods for the improved categorization of soft tissue sarcomas. This research further proposes on the early detection of STS. In the next stage of classification, an optimal Convolution Neural Network (CNN) is employed.

Patients with sarcoma often report prolonged time to diagnosis, which is attributed to the rarity of sarcoma and the low awareness of pre-diagnostic signs and symptoms., Aims: To describe patients' experiences of pre-diagnostic signs/symptoms and pathways to diagnosis, including where help was sought, and the processes involved., Methods: Mixed methods involving quantitative, qualitative and inductive thematic analyses using novel process mapping of patient journey data, as reported by the patients. We examined the time from symptom onset to first professional presentation (patient interval, PI), first consultation to diagnostic biopsy, first consultation to diagnosis (diagnostic interval) and first presentation to diagnosis (total interval)., Results: A total of 87 interviews were conducted over 5 months in 2017. Of these, 78 (40 males/38 females) were included. The sarcoma subtypes were bone (n = 21), soft tissue (n = 41), head and neck (n = 9) and gastro-intestinal (GIST; n = 7). Age at diagnosis was 13-24 (n = 7), 25-39 (n = 23), 40-64 (n = 34) and 65+ (n = 14) years. The median PI was 13 days (1-4971) and similar between sarcoma subtypes, with the exception of GIST (mPI = 2 days, (1-60). The longest mPI (31 days, range 4-762) was for those aged 13-24 years. The median diagnostic interval was 87.5 (range 0-5474 days). A total of 21 patients were misdiagnosed prior to diagnosis and symptoms were commonly attributed to lifestyle factors., Conclusions: Prolonged times to diagnosis were experienced by the majority of patients in our sample. Further research into the evolution of pre-diagnostic sarcoma symptoms is required to inform awareness interventions.

Synovial sarcoma is a rare malignant mesenchymal neoplasm mostly affecting young adults, characterized by a specific translocation which results in the fusion of the SS18 gene on chromosome 18 with one of the three highly homologous SSX genes on chromosome X. Its morphological diagnosis, especially in monophasic or poorly differentiated variants, can be challenging because histological features often overlap with other malignant mesenchymal tumors. Until recently, the differential diagnosis mostly relied on the use of cytogenetic or molecular analyses to detect the specific t(X;18)(p11;q11) translocation, thus virtually restricting its correct identification to referral centers with a high histological and molecular pathology workflow. The recently commercialized highly sensitive and fusion-specific SS18-SSX antibody has significantly improved the approach to these tumors, representing a relatively cheap and easy to access tool for synovial sarcoma diagnosis. Through a retrospective analysis of 79 synovial sarcomas and histological mimickers, this study confirms the usefulness of the SS18-SSX antibody in the diagnosis of synovial sarcoma, particularly focusing on its application in the pathological response evaluation after neoadjuvant treatment as well as its time- and cost-saving advantages. Finally, we here propose a new diagnostic algorithm to apply into the routine practice.

Background and Aim: Sarcoma diagnosis is a challenge for laboratories of cytopathology and anatomic pathology. We conducted this survey-based study to better elucidate real-world practices and challenges of sarcoma diagnosis.  Methods: This was a cross-sectional study using an anonymous questionnaire. The survey was distributed among pathologists using snowball sampling. Descriptive statistics were used to report the finding of this survey., Results: A total of 144 Moroccan pathologists were surveyed. Most respondents were from academic institutions (41.7%) and those with a specialization in sarcoma diagnosis represented 57%, through training using post-graduate fellowships followed by internships abroad and inter-university diplomas. Remarkably, 36.8% of participants reported no training on sarcoma pathology during their career. Regarding frequency of sarcoma diagnosis, 64.6% of pathologists reported having received less than one case of sarcoma per week and more than 70% did not receive sufficient information from referring clinicians. The majority of pathologists reported their nonattendance in multidisciplinary meetings. Morphology and immunohistochemistry were the most frequently used diagnostic tools, while fluorescence in situ hybridization and other molecular biology techniques were accessible for only 27% and 20.1% of pathologists, respectively. Response time during pathological diagnosis of sarcoma was 14 days according to 52.8% of surveyed participants. In addition, a second opinion was needed for 66% of pathologists., Conclusions: Specialized training on sarcoma pathology in Morocco is lacking. A national working group on sarcoma pathology is needed to provide second opinions, and therefore, improve the management of this malignancy of poor prognosis. (www.actabiomedica.it).

Simple Summary: Body fluids contain different classes of RNA molecules such as protein-coding messenger RNAs (mRNA) and noncoding RNAs, including microRNAs (miRNAs), long noncoding RNAs (lncRNAs) and circular RNAs (circRNAs). These circulating RNAs can travel naked or packed into extracellular vesicles and display valuable potential as non-invasive biomarkers of sarcoma malignancy. In this review, we summarize current knowledge on the possible functions of these circulating RNAs and discuss their possible exploitation as novel markers to improve sarcoma diagnosis and prognosis. Despite the recent advance in technological tools have improved protocols for the extraction and detection of circulating RNA, many aspects related to the biology of these molecules remain to be elucidated. In particular, the lack of standardization in the assessment of these markers makes difficult their adoption into clinical practice. Sarcomas comprise a heterogeneous group of rare mesenchymal malignancies. Sarcomas can be grouped into two categories characterized by different prognosis and treatment approaches: soft tissue sarcoma and primary bone sarcoma. In the last years, research on novel diagnostic, prognostic or predictive biomarkers in sarcoma management has been focused on circulating tumor-derived molecules as valuable tools. Liquid biopsies that measure various tumor components, including circulating cell-free DNA and RNA, circulating tumor cells, tumor extracellular vesicles and exosomes, are gaining attention as methods for molecular screening and early diagnosis. Compared with traditional tissue biopsies, liquid biopsies are minimally invasive and blood samples can be collected serially over time to monitor cancer progression. This review will focus on circulating noncoding RNA molecules from liquid biopsies that are dysregulated in sarcoma malignancies and discuss advantages and current limitations of their employment as biomarkers in the management of sarcomas. It will also explore their utility in the evaluation of the clinical response to treatments and of disease relapse. Moreover, it will explore state-of-the-art techniques that allow for the early detection of these circulating biomarkers. Despite the huge potential, current reports highlight poor sensitivity, specificity, and survival benefit of these methods, that are therefore still insufficient for routine screening purposes. [ABSTRACT FROM AUTHOR]

Sarcomas are malignant tumors of mesenchymal origin that can occur at any age. The rarity of these tumors in combination with the vast number of histological subtypes render the study of sarcomas challenging. Organoids represent complex three-dimensional cell culture systems, deriving from stem cells and preserving the capacity to differentiate into the cell types of their tissue of origin. The aim of the present review is to study the current status of patient-derived organoids, as well as their potential to model tumorigenesis and perform drug screenings for sarcomas. In order to identify relevant studies, a literature review was conducted and we were able to identify 16 studies published between 2019 and 2022. The current manuscript represents the first comprehensive review of the literature focusing on the use of organoids for disease modelling and drug sensitivity testing in diverse sarcoma subtypes.

Malignant soft-tissue tumors which were designated as malignant fibrous histiocytoma are regrouped by the WHO (in 2002) under the new entity termed as “undifferentiated pleomorphic sarcoma.”1 It accounts for less than 5% of all adult soft-tissue sarcomas. Here, we report the lesion in a 70-year-old man who presented with high-grade undifferentiated pleomorphic sarcoma in the lower extremity.

The ratio of malignancy in suspicious soft tissue and bone neoplasms (RMST) has not been often addressed in the literature. However, this value is important to understand whether biopsies are performed too often, or not often enough, and may therefore serve as a quality indicator of work-up for a multidisciplinary team (MDT). A prerequisite for the RMST of an MDT is the assessment of absolute real-world data to avoid bias and to allow comparison among other MDTs. Analyzing 950 consecutive biopsies for sarcoma-suspected lesions over a 3.2-year period, 55% sarcomas were confirmed; 28% turned out to be benign mesenchymal tumors, and 17% non-mesenchymal tumors, respectively. Of these, 3.5% were metastases from other solid malignancies, 1.5% hematologic tumors and 13% sarcoma simulators, which most often were degenerative or inflammatory processes. The RMST for biopsied lipomatous lesions was 39%. The ratio of unplanned resections was 10% in this series. Reorganizing sarcoma work-up into integrating practice units (IPU) allows the assessment of real-world data with absolute values over the geography, thereby enabling the definition of quality indicators and addressing cost efficiency aspects of sarcoma care.

Retroperitoneal sarcomas (RPS) are rare cancers whose management can be challenging due to various presentation patterns, multiple organ involvement, and a high local and distant recurrence rate. Histopathology and prognostic factors analysis are essential to predict the behaviour of the disease and plan the best therapeutic strategy. To date, surgery is still the main therapeutic option that guarantees a chance of cure from the primary disease. While chemotherapy and radiotherapy seem to be good options for controlling metastatic and recurrent irresectable disease, their role in the treatment of primary RPS remains unclear. This literature review aims to provide a comprehensive overview of the multidisciplinary aspects of RPS management in high-volume centres, summarising the diagnostic path, the prognostic factors, and the most suitable therapeutic options.

Synovial sarcomas are rare tumors accounting for approximately 5-10% of soft tissue sarcomas. They occur predominantly in the extremities, followed by head and neck. Primary pulmonary sarcomas are very rare and comprise only 0.5% of all primary lung malignancies. The diagnosis is established only after sarcomas like primary lung malignancies, and metastatic sarcomas have been excluded. For synovial sarcomas that arise at unusual locations, a definitive diagnosis is challenging and requires the use of ancillary diagnostic procedures such as immunohistochemistry (IHC) and molecular genetic techniques for confirmation of diagnosis. We report a case of 29-year-old male who had right lower lobe lung mass. He underwent right lower lobectomy. Intraoperative squash smears revealed spindle cell sarcoma. Subsequent histopathology and IHC confirmed the diagnosis as synovial sarcoma. We report this case on account of its rarity and to emphasize the utility of intraoperative squash smears in the diagnosis of such cases, which has been under-utilized in clinical practice.