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Background: Ewing sarcoma is a rare malignant neoplasm that is primarily localized in bone tissues. The prognosis for patients with a newly diagnosed localized Ewing sarcoma has been greatly improved by multimodality treatment. However, treating patients with disseminated or recurrent disease is challenging, with a 5-year overall survival rate of <30%. Case Report: A 17-year-old female with an asymptomatic tumor of the left temple underwent 3 cycles of vincristine, ifosfamide, doxorubicin, and etoposide and achieved partial remission. However, the patient refused further chemotherapy and surgical intervention and was lost to follow-up. After 7 months, the patient presented again with a sizeable tumor on her left temple and worsening symptoms. Chemotherapy with alternating cycles of vincristine, doxorubicin, cyclophosphamide, ifosfamide, and etoposide according to the EURO EWING 2012 trial was initiated. After a positive response, debulking surgery was performed, followed by postsurgical radiation, and partial remission was achieved. Conclusion: Optimal treatment protocols for recurrent Ewing sarcoma are lacking. Treatments are individualized based on the patient's response to treatment and the decisions of tumor boards. Patients with rare tumors such as Ewing sarcoma benefit from multidisciplinary collaboration, resulting in improved quality of care and treatment outcomes.

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BACKGROUND: The integration of artificial intelligence (AI), particularly, in oncology, has significantly shifted the paradigms of medical diagnostics and treatment planning. However, the utility of AI, specifically OpenAI's ChatGPT, in soft tissue sarcoma treatment, remains unclear. METHODS: We evaluated ChatGPT's alignment with the Japanese Orthopaedic Association (JOA) clinical practice guidelines on the management of soft tissue tumors 2020. Twenty-two clinical questions (CQs) were formulated to encompass various aspects of sarcoma diagnosis, treatment, and management. ChatGPT's responses were classified into "Complete Alignment," "Partial Alignment," or "Nonalignment" based on the recommendation and strength of evidence. RESULTS: ChatGPT demonstrated an 86% alignment rate with the JOA guidelines. The AI provided two instances of complete alignment and 17 instances of partial alignment, indicating a strong capability to match guideline criteria for most questions. However, three discrepancies were identified in areas concerning the treatment of atypical lipomatous tumors, perioperative chemotherapy for synovial sarcoma, and treatment strategies for elderly patients with malignant soft tissue tumors. Reassessment with guideline input led to some adjustments, revealing both the potential and limitations of AI in complex sarcoma care. CONCLUSION: Our study demonstrates that AI, specifically ChatGPT, can align with clinical guidelines for soft tissue sarcoma treatment. It also underscores the need for continuous refinement and cautious integration of AI in medical decision-making, particularly in the context of treatment for soft tissue sarcoma.

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BACKGROUND: Solitary fibrous tumor (SFT) is a remarkably uncommon mesenchymal tumor. STAT6 level and a combination of clinical, pathological, and molecular features are required to arrive at a proper diagnosis. CASE SUMMARY: In this report, we present an intriguing case involving a 43-year-old woman who initially exhibited symptoms of a bleeding retroperitoneal tumor, initially resembling a gastrointestinal stromal tumor, but later confirmed as an SFT. However, a year later, what was initially believed to be a recurrence of her SFT was instead identified as a desmoid tumor. CONCLUSION: Distinguishing SFT from other tumors was pivotal. Correcting misdiagnoses of tumor type initially and of recurrence later was necessary for appropriate treatment of the correct desmoid type.

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Ectomesenchymal chondromyxoid tumor (ECT) is a rare soft tissue tumor with peculiar histogenesis, exhibiting a predilection for the dorsum of the tongue. Molecular evidence suggests that it may originate from the migration of ectomesenchymal pluripotent cells from the neural crest to the tongue, where these cells may eventually proliferate and undergo myxoid and chondroid differentiation. This article illustrates a case of a 16-year-old female patient who presented with a nodule on the dorsum of her tongue, which had been present for four years. Surgical excision was performed, and histopathological analysis revealed a myxoid neoplasia composed of polygonal and spindle cells within a loose stroma containing chondroid areas. Tumor cells were positive for GFAP and S-100 proteins on immunohistochemical study, confirming the diagnosis of ECT. After a 5-year follow-up, the patient has shown no evidence of recurrence. Although rare, ECT can be diagnosed straightforwardly due to its distinctive clinical, histopathological, and immunohistochemical features. Clinicians and pathologists should become familiar with this tumor in order to avoid misdiagnosis.

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Dedifferentiated liposarcoma (DDLPS) is a non-lipogenic sarcoma, generally arising from well-differentiated liposarcoma (WDLPS), although it can develop de novo. DDLPS tumors rarely trans-differentiate into non-adipose mesenchymal tissues; however, the latter lack notable variety and mostly show striated muscle or osteogenic/chondrogenic differentiation. Here, we report a case of DDLPS that contained numerous atypical vessels. A man in his sixties presented with a large tumor in his right thigh, and the tumor was surgically resected. Microscopically, most of the tumor was WDLPS, but a minor portion showed DDLPS, consisting of high-grade spindle cells. Remarkably, the DDLPS contained vessels of various sizes with atypical cytoarchitecture, including vessels with seemingly muscular layers. Immunohistochemically, the atypical cells within the vascular wall expressed aSMA, consistent with smooth muscle cells or pericytes, whereas surrounding high-grade spindle cells only focally expressed it, and these aSMA-positive cells within the vessels exhibited MDM2 amplification by immuno-fluorescence in situ hybridization. Our results demonstrate that DDLPS can trans-differentiate into smooth muscle cells of various-sized accompanying vessels, which may support their survival and proliferation.

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EWSR1 is the most commonly rearranged gene in mesenchymal neoplasia, and its myriad chimeric oncoproteins drive widely disparate neoplasms. Here, we survey selected EWSR1 rearrangements, including well-described EWSR1 fusions with CREB family members, ATF1 and CREB1, as well as fusions in emerging entities such as mesenchymal neoplasms with EWSR1::PATZ1 and EWSR1::NFATC2 fusions. We also discuss recent data demonstrating the imperfect specificity of EWSR1::WT1 and, possibly, EWSR1::FLI1 fusions.

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BACKGROUND: Early detection of soft tissue sarcoma (STS) recurrence is essential; however, the role and timeline of Magnetic resonance imaging (MRI) surveillance are still under debate. The aim of this study was to determine whether local recurrence (LR) could be identified via clinical examination alone and to assess the MRI morphology of primary STS and LR. METHODS: This retrospective study included all patients with STS recurrence after surveillance for at least five years from the tumor database of the Medical University of Vienna from 2000 until December 2023. The characteristics of primary STS and LR and the time interval to recurrence and clinical detectability were assessed. The MRIs of LR and posttherapeutic changes (PTC) were compared with the initial MRIs. RESULTS: A total of 57 patients (60% male; mean age 58.5 ± 18.0 years) with STS and histologically confirmed LR were included. The mean time interval to LR was 2.3 ± 1.8 years (range 108 to 3037 days). The clinically detectable recurrences were significantly larger than the inapparent ones (71.9 cm3 vs. 7.0 cm3; p < 0.01). The MRI morphology of all LRs (26/26) closely resembled the initial STS. For comparison, nine patients were included with clinically suspected LRs, which were histologically proven to be PTC. None of these resembled the primary STS. CONCLUSION: Based on clinical symptoms alone, especially small and early recurrences can be missed, which supports the importance of MRI surveillance.

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Extraskeletal chondromas are small nodular cartilaginous lesions not attached to bone or the periosteum. They are rare tumors commonly occurring in the hands and feet. The objective of the present study is to describe a case of extraskeletal intramuscular chondroma (EIC) in the left knee and the diagnostic challenges faced by us. A 25-year-old female patient presented with slow-growing swelling in the left knee for 2 years. Clinically, the swelling was arising from the quadriceps muscle. We considered possibilities such as rhabdomyoma, neurofibroma, and intramuscular lipoma. Imaging studies suggested a benign fatty tumor. She was treated by excision. Microscopy was consistent with EIC without recurrence. A rare entity, clinically, EIC can mimic other benign soft-tissue tumors. Histopathology exams can provide a definitive diagnosis. The excision of the tumor is curative.

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We present the clinical case of a 41-year-old woman with no relevant personal history. The patient complained of diffuse self-limiting abdominal pain, and we incidentally detected an extra-abdominal, extraperitoneal tumor mass at the level of the right sciatic notch. The abdominal complaints were gone during the initial follow-up, but the patient developed sciatica radiating to the right foot and electric shock-like pain. A computed tomography (CT)-guided biopsy revealed a low-grade mesenchymal neoplasm of the soft tissues with characteristics consistent with a solitary extrapleural fibrous tumor. The pelvis team of the orthopedics department received the patient for surgical excision of the lesion. The procedure occurred with no complications, and we excised the totality of the lesion with tumor-free margins. An anatomopathological examination was compatible with the biopsy assessment. The excision of the lesion resulted in complete resolution of the sciatic nerve compression-related symptoms.

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Synovial sarcoma is a rare malignity of mesenchymal origin; the diagnostic approach usually begins by documenting a soft tissue tumor; however, it results in a challenging diagnosis when it is more profound, of small size, or primary from the bone. The present report describes a patient who presented insidious onset hip pain attributed to rheumatoid arthritis, with a fatal outcome due to baseline disease and surgery complications. The underestimation of hip pain, mainly when there is no palpable mass, may delay the diagnosis.

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In this study, we present a 4-year-old male patient with a slowly growing painless mass in the palm of his left hand for 2 years. Although musculoskeletal tumors are rare, hand localized tumors are even rarer in pediatric patients. The fact that very few (less than one in ten) tumors are malignant and there are dozens of subtypes, each with different treatment management, shows the importance of the management of these lesions. Appropriate diagnosis and management of soft tissue masses, especially insidious malignant tumors, is vital. Due to the rarity of soft tissue tumors, adequate guidelines for their management are limited. The purpose of this report is to present an example of the approach to one of the soft tissue tumors.

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Desmoplastic small round cell tumour (DSRCT) is a highly aggressive soft-tissue sarcoma with distinctive morphological features and characteristic EWSR1::WT1 gene fusion. DSRCT occurs in a variety of anatomic sites, with abdominal cavity being the most common location. Primary DSRCTs arising in the male genital system are exceedingly rare, with no documented definitive cases of primary DSRCT of the prostate to date, although 28 cases of DSRCT in the testicular or paratesticular regions have been reported. We here present two cases of primary DSRCT of the prostate. Both cases demonstrated the distinct morphology and the typical multiphenotypic immunohistochemical profile, and the characteristic EWSR1::WT1 fusion verified by fluorescent in situ hybridisation. Our cases expand the anatomic distribution of primary DSRCT and highlight the importance of considering this rare tumour in the differential diagnoses of small cell malignancies of the prostate.

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AIMS: Mesenchymal neoplasms characterised by ALK fusions mainly include inflammatory myofibroblastic tumour (IMT) and epithelioid fibrous histiocytoma (EFH). Most recently, ALK-rearranged mesenchymal tumours that are not IMT or EFH have been reported. Our aim is to further characterise eight such neoplasms, with a detailed clinicopathological, immunohistochemical and molecular analysis. METHODS: Clinicopathological features were assessed and partner agnostic targeted RNA-sequencing on clinically validated platforms was performed. RESULTS: The patients consisted of seven males and one female with a median age of 47 years (28 -59 years). The tumours ranged in size from 2.0 to 10.0 cm (mean=3.0 cm) and involved superficial and deep soft tissue (n=6) and visceral locations (n=2). Of the seven patients with follow-up (9-130 months), two developed distant metastases and five had no disease recurrence or metastasis. The tumours demonstrated diverse architectures and variable cellularity and cellular morphologies. The main constitutive cells appeared in elongated spindled in three, primitive to ovoid in two and round to epithelioid in three cases. We expanded the histopathological spectrum to include mildly to moderately cellular spindled to stellate cells in a multinodular growth in a prominent myxoid and vascularised stroma (n=2). All tumours expressed ALK(D5F3); seven were positive for S100 protein and six were positive for CD34. By fluorescence in situ hybridisation, ALK rearrangement was identified in all eight tumours. ALK fusion partners were identified by RNA-sequencing in all cases, including previously reported: EML4 (n=3), DCTN (n=1), CLIP1 (n=1) and PLEKHH2 (n=1), and also two novel fusion partners: TKT (n=1) and MMP2 (n=1). CONCLUSIONS: Our study expands the clinicopathological and molecular spectrum of ALK-rearranged mesenchymal neoplasms.

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RB1 stands as the pioneering discovery in tumour-suppressor genes, marking a pivotal breakthrough in comprehending cancer development. This overview delves into the role of RB1 in both health and disease, exploring its association with the tumourigenesis of various cancers and a distinct subset of soft-tissue neoplasms. Additionally, we discuss the application of immunohistochemistry and fluorescence in situ hybridisation to detect RB1 alterations.

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BACKGROUND: Within the spectrum of melanocytic-differentiated tumors, the challenge faced by pathologists is discerning accurate diagnoses, with clear cell sarcoma of soft tissues standing out as a rare and aggressive neoplasm originating from the neural crest. Accounting for 1% of all soft tissue sarcomas, clear cell sarcoma of soft tissues poses diagnostic complexities, often misidentified owing to its phenotypic resemblance to malignant melanoma. This chapter delves into the intricacies of clear cell sarcoma of soft tissues, its epidemiology, characteristic manifestations, and the imperative need for a comprehensive diagnostic approach involving immunohistochemical and molecular analyses. CASE PRESENTATION: A compelling case unfolds as a 25-year-old male from Morocco, initially misdiagnosed with malignant melanoma, experiences tumor recurrence on the second toe. With no history of trauma or familial neoplasia, the patient's clinical journey is explored, emphasizing the importance of detailed clinical examinations and radiological assessments. The chapter elucidates the histopathological findings, immunohistochemical spectrum, and the correlation between clinical parameters and diagnostic inference, ultimately leading to metatarsal amputation. This clinical vignette highlights the multidimensional diagnostic process in soft tissue neoplasms, emphasizing the synergistic role of clinical, radiological, and histopathological insights. CONCLUSION: The diagnostic challenges inherent in melanocytic-differentiated tumors, exemplified by the rarity of soft tissue clear cell sarcoma, underscore the essential role of an integrated diagnostic approach. This concluding chapter emphasizes the perpetual collaboration required across pathology, clinical medicine, and radiology for nuanced diagnostic precision and tailored therapeutic strategies. The rarity of these soft tissue malignancies necessitates ongoing interdisciplinary engagement, ensuring the optimization of prognosis and treatment modalities through a comprehensive understanding of the diagnostic intricacies presented by clear cell sarcoma of soft tissues.

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Oral metastatic sarcomas (OMSs) occur only occasionally, and information about their characteristics is based on the restricted number of cases reported in the literature. This study aims to systematically review the English literature to recognize the clinicopathologic characteristics of OMSs. An electronic search was performed in PubMed Central and Scopus databases. The search included all the published articles (human case reports and case series) up till April 2023, with no time restrictions. OMSs were slightly more prevalent in males in their fifth to seventh decades of life. However, a high percentage of OMSs has been reported in the second decade of life. Lower extremities, breasts and uterus are the most common primary origin of metastatic sarcoma. Gingiva and mandible were common locations in the oral cavity for metastatic deposits. Generally, they demonstrated widespread affliction. The mean time interval between primary tumor detection and diagnosis of the oral metastasis was about 33.54 ± 36.19 months. Death was reported in 83 patients (67.48 %) with a mean survival rate of 7.98 ± 10.30 months. The most common microscopic tumor types were leiomyosarcoma (n = 21, 17 %), followed by angiosarcoma (n = 20, 16.26 %) and osteosarcoma (n = 18, 14.63 %). In conclusion, while oral metastases of sarcomas are not common, those should be considered in the differential diagnosis of the oral lesions. Although OMSs show a high occurrence in the 7th decade of the life, the average age of patients with oral involvement is lower than the overall metastatic lesions. OMSs may present as widespread disease with poor prognosis.

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Lipomas are the most common soft-tissue tumors in the human body, but their location in the hand is rare. Symptomatic hand lipomas, due to nerve compression, are even rarer. We present a case of median nerve neuropathy as a result of a giant palm lipoma, located on the thenar and hypothenar areas of the hand. The patient had typical symptoms of carpal tunnel syndrome, along with compromised thumb motion. Intraoperatively, the recurrent motor branch of the median nerve was sitting on the lipoma under a great tension. This particular location of the motor branch of the median nerve in relation to the lipoma makes this case unique. The tumor was excised protecting the neurovascular structures, and a few weeks later the patient regained full thumb motion, grip strength, and resolution of dysesthesia.

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Liposarcomas are described as soft tissue sarcomas derived from adipose tissue. The finding of this tumor in the mandibular region is exceedingly rare. As of now, it has been described mainly in case reports and small series. A multidisciplinary approach is required to offer optimal treatment and may involve surgery, radiation and systemic therapies. Surgical repair of these defects represents a major challenge in oral and maxillofacial reconstructive surgery. We present the case of a 54-year-old man referred to our center with a progressively increasing mass in the anterior portion of the mandible. Biopsy revealed a well-differentiated myxoid liposarcoma. Resection of the tumor was performed with an additional primary reconstruction.