Unveiling a Jejunal Leiomyosarcoma Presenting as a Gastrointestinal Stromal Tumor: A Case Report.

Small bowel malignant tumors, particularly leiomyosarcomas (LMSs), are rare and challenging to diagnose due to their asymptomatic nature in the initial stages. The lack of specific symptoms makes it difficult to differentiate LMSs from other gastrointestinal tumors. This report highlights the clinical presentation, diagnostic challenges, treatment, and prognosis of small bowel LMSs, specifically focusing on a rare case of jejunal LMS presented in a 75-year-old man, initially suspected as a gastrointestinal stromal tumor (GIST). Clinical examination, laboratory investigations, imaging studies, and histopathological analysis were performed to diagnose and treat the patient. The patient underwent surgical excision of the tumor with successful recovery. The histopathological analysis confirmed a high-grade LMS, and the patient was advised on adjuvant chemotherapy for further treatment. This case report emphasizes the importance of considering small bowel LMSs in the differential diagnosis of abdominal pain and highlights the challenges in diagnosing and treating these rare tumors. Early detection and appropriate management can improve the prognosis of patients with small bowel LMSs.

Low-Grade Myofibroblastic Sarcoma of Hard Palate-A Diagnostic Challenge with Review of Literature.

Low-grade myofibroblastic sarcoma (LGMS) is categorized as an extremely rare malignant neoplasia of myofibroblasts. To date, only 38 cases describing patients diagnosed with LGMS in the oro-maxillofacial region have been reported in the scientific literature. Here, we introduce a rare case report and, for the first time, also provide a recent update of the literature and a clear review regarding the immunohistochemical panel to diagnose this entity.

Transcriptomic profiles of myxofibrosarcoma and undifferentiated pleomorphic sarcoma correlate with clinical and genomic features.

Myxofibrosarcoma (MFS) and undifferentiated pleomorphic sarcoma (UPS) are two common and aggressive subtypes of soft tissue sarcoma. The aim of this study was to assess potential transcriptomic differences between MFS and UPS tumours and to evaluate the extent to which differences in gene expression profiles were associated with genomic and clinical features. The study included 162 patients with tumours diagnosed as MFS (N = 62) or UPS (N = 100). The patients had been diagnosed and treated at two Swedish sarcoma centres during a 30-year period. For gene expression profiling and gene fusion detection all tumours were analysed using RNA-sequencing and could be compared with data on clinical outcome (N = 155), global copy number profiles (N = 145), and gene mutations (N = 128). Gene expression profiling revealed three transcriptomic clusters (TCs) without any clear separation of MFS and UPS. One TC was associated with longer metastasis-free survival. These tumours had lower tumour mutation burden (TMB), were enriched for a copy number signature representative of focal LOH and chromosomal instability on a diploid background, and were relatively immune-depleted. MFS and UPS showed extensive genomic overlap, with whole genome doubling occurring more frequently among the latter. The results support the idea that MFS and UPS tumours have largely overlapping genomic and transcriptomic features, with UPS tumours showing more aggressive behaviour and more complex genomes. Independently of the tumour type, clinically relevant subgroups were revealed by gene expression analysis, and the finding of multiple genomic subgroups strongly suggest the existence of subgroups of relevance to treatment stratification. © 2024 The Author(s). The Journal of Pathology published by John Wiley & Sons Ltd on behalf of The Pathological Society of Great Britain and Ireland.

Perfusion-weighted imaging with dynamic contrast enhancement (PWI/DCE) morphologic, qualitative, semiquantitative, and radiomics features predicting undifferentiated pleomorphic sarcoma (UPS) treatment response.

Undifferentiated pleomorphic sarcoma (UPS) is the largest subgroup of soft tissue sarcomas. This study determined the value of perfusion-weighted imaging with dynamic-contrast-enhancement (PWI/DCE) morphologic, qualitative, and semiquantitative features for predicting UPS pathology-assessed treatment effect (PATE). This retrospective study included 33 surgically excised extremity UPS patients with pre-surgical MRI. Volumetric tumor segmentation from PWI/DCE was obtained at Baseline (BL), Post-Chemotherapy (PC), and Post-Radiation Therapy (PRT). The surgical specimens' PATE separated cases into Responders (R) (≥ 90%, 16 patients), Partial-Responders (PR) (89 - 31%, 10 patients), and Non-Responders (NR) (≤ 30%, seven patients). Seven semiquantitative kinetic parameters and maps were extracted from time-intensity curves (TICs), and 107 radiomic features were derived. Statistical analyses compared R vs. PR/NR. At PRT, 79% of R displayed a "Capsular" morphology (P = 1.49 × 10-7), and 100% demonstrated a TIC-type II (P = 8.32 × 10-7). 80% of PR showed "Unipolar" morphology (P = 1.03 × 10-5), and 60% expressed a TIC-type V (P = 0.06). Semiquantitative wash-in rate (WiR) was able to separate R vs. PR/NR (P = 0.0078). The WiR radiomics displayed significant differences in the first_order_10 percentile (P = 0.0178) comparing R vs. PR/NR at PRT. The PWI/DCE TIC-type II curve, low WiR, and "Capsular" enhancement represent PRT patterns typically observed in successfully treated UPS and demonstrate potential for UPS treatment response assessment.

Undifferentiated High-Grade Pleomorphic Bone Sarcoma: A Case Report.

Undifferentiated pleomorphic bone sarcoma (UPS-B) is a rare high-grade sarcoma of bone that is usually seen in advanced age. There is no specific line or pattern of differentiation, and the diagnosis is often made by exclusion. It is especially important to differentiate it from osteosarcoma and dedifferentiated chondrosarcoma. It tends to be located most frequently in the lower extremity, particularly the femur. It is treated with the osteosarcoma protocol. In this study, a case of undifferentiated high-grade pleomorphic bone sarcoma located in the distal femur was reported. It aimed to discuss the patient's clinical presentation, diagnostic approach, treatment, and follow-up process in light of the literature. In this case, the tumor was resected with wide margins after neoadjuvant chemotherapy. He died of diffuse lung metastases during the adjuvant chemotherapy process. Unlike the literature, the patient was only 29 years old. The patient died 8 months after the first diagnosis.

Early presentation of undifferentiated pleomorphic cardiac sarcoma.

Undifferentiated pleomorphic cardiac sarcomas are extremely rare, highly malignant mesenchymal cardiac neoplasms typically presenting in the sixth decade of life. Here, we have reported a rare case of undifferentiated pleomorphic cardiac sarcoma presenting with dyspnea in a young male. On further evaluations, a large, ill-defined, multilobulated mass was observed in left atrium (LA) with encasement of left circumflex artery, attachment to mitral valve annulus, and invasion through LA wall and pericardium.

Clinicopathological and genetic characterization of radiotherapy-induced undifferentiated pleomorphic sarcoma following breast cancer: a case series of three tumors and comprehensive literature review.

AIMS: Compared to primary breast sarcoma (BSs), radiotherapy-induced sarcoma (RIS) is a less frequent type of secondary breast sarcoma. Undifferentiated pleomorphic sarcoma (UPS) is an even rarer occurrence within the RIS category. This study aimed to present the clinicopathologic and molecular features of breast radiotherapy-induced UPS. METHODS: A retrospective study was conducted at the Third Affiliated Hospital of Soochow University to analyze three patients with radiation-induced undifferentiated pleomorphic sarcoma (UPS) following breast cancer, spanning from 2006 to 2023. The clinical and pathological variables were extracted from the medical records, while immunohistochemistry was employed to analyze the immunophenotypes of these tumors. Genomic characteristics were assessed through DNA and RNA sequencing techniques. Another 15 cases from the literature were also reviewed to better characterize the tumor. RESULTS: The affected areas encompass the chest wall and breasts, with an incubation period ranging from 6 to 17 years. The tumor cells exhibit pleomorphism and demonstrate a high degree of pathological mitosis. Notably, two cases displayed an accelerated disease progression, characterized by recurrent tumors and metastases occurring within short intervals of 48 and 7 months respectively subsequent to the initial diagnosis. The two prevailing identified genes were TP53 (2/3, 66.7%) and RB1 (1/3, 33.3%). Through analysis of somatic copy number variation (CNV), it was discovered that two oncogenes, MCL1 (1/3, 33.3%) and MYC (1/3, 33.3%), had experienced gains in CNV. The Tumor Mutational Burden (TMB) values for case 1, case 2, and case 3 were 5.9 mut/Mb, 1.0 mut/Mb, and 3.0 mut/Mb, respectively. Moreover, the analysis of RNA-NGS (next-generation sequencing) revealed the presence of a novel gene fusion, named COL3A1-GULP1, in case 2. CONCLUSIONS: Based on our thorough analysis of research findings and previous reports, it is evident that radiotherapy-induced UPS exhibits a highly diverse and frequently severe clinical and biological behavior. Identifying tumor formation using genome sequencing can help understand its biological behavior and determine personalized treatments.

A case of undifferentiated pleomorphic rectal sarcoma occurring after radiation exposure.

A 72 year-old man was referred to our hospital for a detailed examination of a recurrent rectal polyp. He had past histories of surgery and radiation therapy for prostate cancer at the age of 66 and endoscopic excision of a rectal polyp at the age of 70. Colonoscopy revealed a semi-pedunculated lesion surrounded by friable mucosa, which was positive under positron-emission tomography-computed tomography. Histopathological examination of the endoscopically excised polyp revealed proliferation of atypical cells, characterized by strong pleomorphic or spindle morphology, which was immunohistochemically compatible with undifferentiated pleomorphic sarcoma. We diagnosed this case as sarcoma presumably associated with radiation proctitis.

Sural flap reconstruction of lateral malleolus following undifferentiated pleomorphic sarcoma resection with 1-year follow-up.

We report a case of a 54-year-old female who presents with a gradually expanding mass at the right lateral malleolus. The diagnosis of undifferentiated pleomorphic sarcoma was made after a histopathological examination of the mass following a wide tumor excision. The defected soft tissue area was reconstructed using a local flap, reverse sural artery flap. Following the surgical management, multiple radiotherapy sessions were completed. The patient's follow-up result showed no signs of local recurrence or metastasis, and the wound was well-healed with no complications other than paresthesia in a small area at the posterolateral aspect of the ankle under the lateral malleolus. This case represents a rare form of malignant neoplasm and emphasizes the effectiveness and safety of the reverse sural artery flap reconstruction technique, especially in places where microsurgery is unavailable or when the patient's status does not allow for prolonged anesthesia.

A Detailed Examination of Retroperitoneal Undifferentiated Pleomorphic Sarcoma: A Case Report and Review of the Existing Literature.

This detailed review focuses on retroperitoneal undifferentiated pleomorphic sarcoma (UPS), a particularly aggressive soft-tissue sarcoma that poses unique diagnostic and therapeutic challenges due to its rarity and complex presentation. By documenting a new case of retroperitoneal UPS and conducting a comprehensive review of all known cases, this article aims to expand the existing body of knowledge on the epidemiology, molecular pathogenesis, and treatment strategies associated with this rare disease. The complexity of diagnosing UPS is emphasized given that it rarely occurs in the retroperitoneal space and its histological and molecular complexity often complicates its recognition. This review highlights the need for specialized diagnostic approaches, including advanced imaging techniques and histopathological studies, to accurately diagnose and stage the disease. In terms of treatment, this paper advocates a multidisciplinary approach that combines surgery, radiotherapy and chemotherapy and tailors it to individual patients to optimize treatment outcomes. This review highlights case studies that illustrate the effectiveness of surgical intervention in the treatment of these tumors and emphasize the importance of achieving clear surgical margins to prevent recurrence. Furthermore, this review discusses the potential of new molecular targets and the need for innovative therapies that could bring new hope to patients affected by this challenging sarcoma.

Undifferentiated Pleomorphic Sarcoma of the Descending Colon: An Infrequent Occurrence.

Undifferentiated pleomorphic sarcoma (UPS), formerly known as malignant fibrous histiocytoma (MFH), constitutes a significant subset of soft-tissue sarcomas. Despite its rarity, UPS poses substantial clinical challenges due to its aggressive behavior and propensity for distant metastasis. Here, we report a rare case of high-grade UPS located in the colon, a site exceptionally uncommon for this malignancy, in a 49-year-old woman. The case also underscores the importance of considering UPS in the differential diagnosis of colonic neoplasms. Understanding the clinical and pathological features of UPS in unusual locations like the large intestine is crucial for timely diagnosis and appropriate management strategies.

Development of an Undifferentiated Pleomorphic Sarcoma After Aortic Aneurysm Graft Replacement: A Case Report and Literature Review.

Aortic sarcomas are extremely rare. Sarcomas associated with aortic graft replacement are even rarer; only 17 cases have been examined through immunohistochemical staining to date, most of which were either angiosarcomas or intimal sarcomas. Here, we report the case of an 88-year-old man with an undifferentiated pleomorphic sarcoma (UPS) that developed after aortic graft replacement and was diagnosed through postmortem autopsy. To the best of our knowledge, this is the first case of graft-associated sarcoma diagnosed as an undifferentiated pleomorphic type following detailed immunohistochemical staining with sufficient antibodies and fluorescencein situ hybridization (FISH).

A case of cardiac undifferentiated pleomorphic sarcoma in late pregnancy: A case report.

Cardiac tumors are uncommon and most of them are benign. Although cases of malignant cardiac tumors are rare, it is still necessary to improve awareness in both clinical and pathological diagnosis. Since cardiac tumors often have a high degree of malignancy, it is vital to determine what form of intervention can increase recurrence-free survival and overall survival. In this paper, we report on a 42-year-old woman in the third trimester of pregnancy who had a cardiac undifferentiated pleomorphic sarcoma. According to her medical history, the patient had never had a cardiac tumor or any other disease. She was treated surgically and a left atrial mass was removed immediately after cesarean section. No other treatments were applied after the surgery, and, unfortunately, the tumor reoccurred 6 months later. We reviewed some literature and found one case in which the patient was treated using radiotherapy and survived for another 2 years after the third tumor recurrence. This suggests that neoadjuvant therapy effectively improves the survival rates of such patients.

A rare case of undifferentiated pleomorphic sarcoma affecting the mandible - A case report.

Undifferentiated pleomorphic sarcoma (UPS) is a rare entity found in the oral cavity which involves the mandible in only 3% of all UPS bone lesions. The correlation of the clinical presentation of the neoplasm with the histopathological and immunohistochemistry findings is very important for appropriate diagnosis. Its incidence in membranous bone like mandible is rare. According to our literature search in the PubMed database, there are only four reported cases from India some of which does not have any immunohistochemistry findings to confirm the diagnosis. We present a rare case of UPS of mandible which was clinically mimicking squamous cell carcinoma. Upon immunohistochemical analysis, we found vimentin, KI67, CD68 positive and desmin, Melan A, LCA, S100 and myogenin negative, which lead us to the diagnosis of UPS.

Undifferentiated high-grade pleomorphic sarcoma of the common bile duct: A case report and review of literature.

BACKGROUND: Undifferentiated pleomorphic sarcoma (UPS) is a rare malignant mesenchymal tumor with a poor prognosis. It mainly occurs in the extremities, trunk, head and neck, and retroperitoneum regions. Owing to the lack of specific clinical manifestations and imaging features, UPS diagnosis mainly depends on pathological and immunohistochemical examinations for exclusive diagnosis. Here we report an extremely rare case of high-grade UPS in the common bile duct (CBD). There are limited available data on such cases. CASE SUMMARY: A 70-year-old woman was admitted to our department with yellow eyes and urine accompanied by upper abdominal distending pain for 2 wk. Her laboratory data suggested significantly elevated hepatorenal function levels. The imaging data revealed calculous cholecystitis, intrahepatic and extrahepatic bile duct dilation with extrahepatic bile duct calculi, and a space-occupying lesion at the distal CBD. After endoscopic biliary stenting and symptomatic support therapy, CBD exploration and biopsy were performed. The frozen section indicated malignant spindle cell tumor of the CBD mass, and further radical pancreaticoduodenectomy was performed. Finally, the neoplasm was diagnosed as a high-grade UPS combined with the light-microscopic morphology and immunohistochemical results. CONCLUSION: This extremely rare case highlighted the need for increasing physicians' vigilance, reducing the odds of misdiagnosis, and providing appropriate treatment strategies.

Natural history of undifferentiated pleomorphic sarcoma: Experience from the US Sarcoma Collaborative.

BACKGROUND: Undifferentiated pleomorphic sarcoma (UPS) is a relatively rare but aggressive neoplasm. We sought to utilize a multi-institutional US cohort of sarcoma patients to examine predictors of survival and recurrence patterns after resection of UPS. METHODS: From 2000 to 2016, patients with primary UPS undergoing curative-intent surgical resection at seven academic institutions were retrospectively reviewed. Epidemiologic and clinicopathologic factors were reviewed by site of origin. Overall survival (OS), recurrence-free survival (RFS), time-to-locoregional (TTLR), time-to-distant recurrence (TTDR), and patterns of recurrence were analyzed. RESULTS: Of the 534 UPS patients identified, 53% were female, with a median age of 60 and median tumor size of 8.5 cm. The median OS, RFS, TTLR, and TTDR for the entire cohort were 109, 49, 86, and 46 months, respectively. There were no differences in these survival outcomes between extremity and truncal UPS. Compared with truncal, extremity UPS were more commonly amenable to R0 resection (87% vs. 75%, p = 0.017) and less commonly associated with lymph node metastasis (1% vs. 6%, p = 0.031). R0 resection and radiation treatment, but not site of origin (extremity vs. trunk) were independent predictors of OS and RFS. TTLR recurrence was shorter for UPS resected with a positive margin and for tumors not treated with radiation. CONCLUSION: For patients with resected extremity and truncal UPS, tumor size >5 cm and positive resection margin are associated with worse survival OS and RFS, irrespectively the site of origin. R0 surgical resection and radiation treatment may help improve these survival outcomes.

DDIT3-amplified or low-polysomic pleomorphic sarcomas without MDM2 amplification: Clinicopathological review and immunohistochemical profile of nine cases.

Several high-grade pleomorphic sarcoma cases that cannot be classified into any existing established categories have been reported. These cases were provisionally classified into undifferentiated pleomorphic sarcoma (UPS). Some dedifferentiated liposarcoma (DDLS) cases may also have been classified into the UPS category due to the absence of MDM2 amplification or an atypical lipomatous tumor/well-differentiated liposarcoma component. We retrieved and reviewed 77 high-grade pleomorphic sarcoma cases, initially diagnosed as UPS in 66 cases and DDLS in 11 cases. Fluorescence in situ hybridization (FISH) analyses of DDIT3 and MDM2 were performed for available cases. Of the cases successfully subjected to DDIT3 FISH (n = 56), nine (7 UPS and 2 DDLS) showed DDIT3 amplification but no MDM2 amplification. Two UPS cases showed both telomeric (5') and centromeric (3') amplification of DDIT3 or low polysomy of chromosome 12, whereas 5 UPS and 2 DDLS cases showed 5'-predominant DDIT3 amplification. Histopathologically, all cases showed UPS-like proliferation of atypical pleomorphic tumor cells. Immunohistochemically, only one case showed focal nuclear positivity for DDIT3, supporting the previous finding that DDIT3 expression was not correlated with DDIT3 amplification. All three cases with focal MDM2 expression involved 5'-predominant amplification, two of which showed DDLS-like histological features. The majority of cases (7/9) showed decreased expression in p53 staining, suggesting that DDIT3 amplification regulates the expression of TP53 like MDM2. From a clinicopathological perspective, we hypothesize that DDIT3-amplified sarcoma, especially with 5'-predominant amplification, can be reclassified out of the UPS category.

Superficial dedifferentiated liposarcoma: A clinicopathologic study.

INTRODUCTION: Dedifferentiation occurs in approximately 10% of atypical lipomatous tumors/well-differentiated liposarcomas (ALT/WDLPS), primarily in retroperitoneal or deep-seated tumors, conferring metastatic potential. Superficial dedifferentiated liposarcoma (sDDLPS) is rare, and its progression and natural history are poorly documented. METHODS: We performed a 15-year retrospective review of our pathology database to identify cases of DDLPS in the skin or subcutaneous tissue. Diagnosis of primary sDDLPS required evidence of non-lipogenic sarcoma in the skin or subcutis, with concurrent ALT/WDLPS and/or MDM2 amplification. RESULTS: We identified 14 cases of DDLPS involving skin or subcutis: 7 primary sDDLPS and 7 secondary lesions (3 from recurrent deep DDLPS and 4 from metastasis). Primary sDDLPS cases (4 females, 3 males; median age: 74) mainly presented as undifferentiated spindle cell or pleomorphic sarcoma. Tumor grades were grade 2 (5 cases) and grade 3 (2 cases), with three cases also showing grade 1 areas. MDM2 amplification was confirmed in 6 sDDLPSs for which FISH was successfully performed. Follow-up available for 6 sDDLPS patients showed 2 local recurrences, treated with re-excision and radiation therapy, with all disease-free at last follow-up (5-126 months). Of the 7 secondary cases, 2 had ongoing disease after multiple recurrences, 1 was disease-free, and all 4 with cutaneous metastasis died of disease (follow-up range: 24-263 months). CONCLUSION: These findings emphasize the importance of distinguishing between primary sDDLPS and secondary lesions due to their distinct prognoses. Metastasis or superficial extensions from deep DDLP correlate with a considerably worse prognosis than those originating in superficial tissues.

FGF23 Expression Is a Promising Immunohistochemical Diagnostic Marker for Undifferentiated Pleomorphic Sarcoma of Bone (UPSb).

Background: Undifferentiated pleomorphic sarcoma of bone (UPSb) is a rare primary bone sarcoma that lacks a specific line of differentiation. Distinguishing between UPSb and other malignant bone sarcomas, including dedifferentiated chondrosarcoma and osteosarcoma, is challenging due to their overlapping features. We have previously identified that UPSb tumours have elevated mRNA levels of Fibroblast Growth Factor 23 (FGF23) transcripts compared to other sarcomas including osteosarcoma. In the present study, we evaluated the specificity and practicality of FGF23 immunoreactivity as a specific diagnostic tool to differentiate UPSb tumours from osteosarcomas and dedifferentiated chondrosarcomas. Methods: A total of 10 UPSb, 10 osteosarcoma, and 10 dedifferentiated chondrosarcoma cases (all high-grade), were retrieved and immunohistochemistry for FGF23 was performed. Results: FGF23 protein was expressed at high levels in 80-90% of undifferentiated pleomorphic sarcoma of the bone cases, whereas it was expressed at significantly lower levels in dedifferentiated chondrosarcoma and osteosarcoma cases. A semiquantitative analysis, considering the intensity of immunoreactivity, confirmed significantly elevated FGF23 expression levels in UPSb tissues compared to those observed in osteosarcoma and dedifferentiated chondrosarcoma tissues. Conclusions: The results we present here suggest that FGF23 immunohistochemistry may be a useful tool to aid in differentiating UPSb from morphologically similar malignant bone sarcomas, especially in situations where sampling is restricted and there is limited clinical information available.

A retroperitoneal primary undifferentiated pleomorphic sarcoma.

A 52-year-old male had pain in the right back and right hypochondrium, and an abdominal CT scan revealed a 49-mm tumor in the right upper perirenal space. Additional MRI and PET-CT suggested that the tumor may be a primary adrenal carcinoma and could invade the liver and diaphragmatic leg. The tumor was completely removed by laparotomy and histopathologically diagnosed as retroperitoneal primary undifferentiated pleomorphic sarcoma. The patient has remained recurrence-free for 1.5 years after the surgery.