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Pulmonary myxoid sarcoma is an rare and poorly understood malignant neoplasm that primarily arises within the pulmonary tissue. Characterized by its distinctive histological features of myxoid stroma and spindle-shaped cells, this neoplasm poses significant diagnostic and therapeutic challenges due to its rarity and the non-specific nature of its clinical presentation. Current knowledge regarding the pathogenesis, optimal therapeutic strategies and prognostic factors for pulmonary myxoid sarcoma remains limited, primarily due to the scarcity of reported cases and comprehensive studies. The present study reports a case of pulmonary myxoid sarcoma. A 41-year-old male was admitted to the Jeonbuk National University Hospital due to a pulmonary mass in the left lower lobe discovered during a routine health check-up. A CT scan performed at our hospital revealed a nodule ~1 cm in size in the mediobasal segment of the left lower lobe, with relatively well-defined margins and significant enhancement. A wedge resection was performed for diagnosis and treatment, and frozen section examination showed a high likelihood of pleomorphic adenoma. The histological findings of the permanent section examination revealed an abundant myxoid matrix with embedded spindle, stellate and rounded/epithelioid cells arranged in a reticular pattern. The tumor cells exhibited mild to moderate cellular atypia, with rare mitotic figures. Immunohistochemistry showed positive staining for vimentin and negative findings for myoepithelial cell markers such as calponin, high-molecular weight cytokeratin and p63. The presence of the EWSR1-CREB1 fusion was confirmed through fluorescence in situ hybridization and reverse transcription-PCR analyses. Based on these findings, the nodule was diagnosed as pulmonary myxoid sarcoma.

Angiomatoid fibrous histiocytoma (AFH) is a rare soft tissue tumor of uncertain differentiation with low metastatic potential, most commonly occurring in children, adolescents, and young adults, involving extremities. Due to its rare nature and diverse presentation, both clinically and morphologically, it is often misdiagnosed. It becomes important to correctly diagnose this lesion, given its distinct therapeutic implications. Here, we present the clinical, radiologic, and pathologic findings of two rare cases of AFH. Since AFH is a rare soft tissue tumor with low malignant potential, both pathologists and clinicians should be aware of this entity, when encountered with a soft tissue mass in extremities of a child or adolescent, so as to accord appropriate treatment in such cases.

Unlike melanoma, clear cell sarcoma harbors either a t(12;22)(q13;q12) recurrent translocation, resulting in an EWSR1/ATF1 chimeric gene, or less commonly a t(2;22)(q34;q12) translocation fusing EWSR1 and CREB1 . Few studies have examined the prevalence of all chimeric types and variants to assess the usage of ancillary genetic testing in routine diagnosis. We investigated rearrangement prevalence in 17 clear cell sarcomas, two positive control cell lines, and two melanomas (negative controls). Fluorescence in situ hybridization (FISH) analysis using the LSI EWSR1 break-apart probe and a reverse transcription polymerase chain reaction (RT–PCR) assay optimized for formalin-fixed paraffin-embedded tissue to detect all four reported EWSR1/ATF1 clear cell sarcoma chimeric types and the EWSR1/CREB1 variant was performed. All 15 cases available for testing by FISH were positive for EWSR1 rearrangement including two cases with insufficient RNA for RT–PCR. Thirteen of 15 cases successfully tested by RT–PCR harbored a type 1 chimeric transcript ( EWSR1 exon 8/ ATF1 exon 4), of which five tumors simultaneously carried a type 2 chimeric transcript ( EWSR1 exon 7/ ATF1 exon 5). One case carried a type 2 transcript alone and one case contained an EWSR1/CREB1 transcript. Both control cases were positive by both techniques with one case carrying both types 1 and 2 chimeric transcripts and the other types 2 and 3 ( EWSR1 exon 10/ ATF1 exon 5). Consequently, both techniques are equally effective in assessing for an EWSR1 rearrangement and are useful ancillary diagnostic tests for clear cell sarcoma. They also reinforce the prevalence of this translocation in these tumors. In addition, EWSR1-CREB1 was identified in a clear cell sarcoma of soft tissue providing further evidence that this chimeric variant is not exclusive to gastrointestinal clear cell sarcomas and should be included in RT–PCR assays of soft tissue clear cell sarcomas.

Angiomatoid fibrous histiocytoma (AFH) is a rare soft tissue tumor, common in children and young adults, often misdiagnosed as either reactive or malignant. This study aims to highlight the clinico-radiological and pathological features of this uncommon entity. Eighteen cases of AFH diagnosed over a period of 20 years were analyzed and correlated with clinical data. The tumor had a wide age distribution with an M:F ratio of 3.5:1. Though swelling was the common clinical presentation, a subset of patients had constitutional symptoms like fever, weight loss, loss of appetite, and anemia. One patient was referred with deranged aPTT and hypergammaglobulinemia. The radiological features were also myriad ranging from infection in a discharging soft tissue swelling to lymphoma (in cases with nodal involvement) to sarcoma (angiosarcoma and telangiectatic osteosarcoma). Sites of occurrence were soft tissue of the upper limb, lower limb, head and neck, bone, and lung. Intra-operatively, these tumors run the risk of bleeding and may require pre-op embolization and support by blood and blood products. Wide local excision was the primary treatment offered. Macroscopically, the average size was 3.5 cm; the cut surface was nodular, cystic with hemorrhage, and gray–white to brownish–yellow in color. Microscopically, the tumors were circumscribed with a fibrous pseudo-capsule and showed mildly pleomorphic spindle cells insheets and fascicles, in a sclerotic to myxoid stroma. A peripheral cuff of lymphoplasmacytic cells was present in all cases. Atypical histological features observed were moderate nuclear pleomorphism, frequent mitosis, solid variant, and myxoid stroma. Immunohistochemically, they were most often positive for desmin, CD68, and EMA. Interestingly, about 55.5% cases had lymphadenopathy of which three showed metastatic tumor. Three of our cases harbored EWSR1 re-arrangement, proven by FISH. Follow up details were available for six patients and none showed recurrence. In conclusion, we emphasize the importance of improved recognition of this rare yet morphologically distinct neoplasm, with varied clinico-radiological presentation.

Background: Clear cell sarcoma (CCS) is an extremely rare form of sarcoma representing less than 1% of all soft-tissue sarcomas. It has morphological, structural, and immunohistochemical similarities to malignant melanoma, affecting young adults and equally affecting both sexes, and is usually located in the tendinous sheaths and aponeuroses of the limbs. Gastrointestinal localization is exceptional, with less than 100 cases reported thus far. The gene fusion of activating transcription factor 1 (ATF1) and the Ewing sarcoma breakpoint region 1 (EWSR1) are pathognomonic for clear cell sarcoma, representing the key to the diagnosis. CCS is an extremely aggressive tumor, with >30% having distant or lymphatic metastasis at the time of diagnostic, and it has a high recurrence rate of over 80% in the first year after diagnosis and a high tendency for metastatic dissemination. Given the rarity of this tumor, there is no standardized treatment. Early diagnosis and radical surgery are essential in the treatment of CCS both for the primary tumor and for recurrence or metastasis. Chemo-radiotherapy has very little effect and is rarely indicated, and the role of targeted therapies is still under investigation. Case presentation: We present an extremely rare case of intestinal CSS in a 44-year-old Caucasian female. The patient, asymptomatic, first presented for a routine checkup and was diagnosed with mild iron-deficiency anemia. Given her family history of multiple digestive cancers, additional investigations were requested (gastroscopy, colonoscopy, tumoral markers and imaging) and the results were all within normal limits. In the subsequent period, the patient experienced mild diffuse recurrent abdominal pain, which occurred every 2–3 months. Two years later, the patient presented with symptoms of intestinal obstruction and underwent an emergency laparotomy followed by segmental enterectomy and regional lymphadenectomy for stenotic tumor of the jejunum. Histology, immunohistochemistry, and genetic testing established the diagnosis of CCS. No adjuvant therapy was indicated. Initially, no signs of recurrence or metastasis were detected, but after 30 and 46 months, respectively, from the primary treatment, the patient developed liver metastasis and pericolic peritoneal implants treated by atypical hepatic resections and right hemicolectomy. The patient remains under observation.

Clear cell sarcoma-like tumor of the gastrointestinal tract (CCSLTGT) is a very rare and relatively recently characterized mesenchymal neoplasm arising within the wall of the small bowel, stomach, or large bowel, predominantly in adolescents and young adults. Only few anecdotal reports or small series have been published and a consensus on treatment has not been formulated. Complete resection remains the only curative option for localized disease, but despite optimal surgery, CCSLTGT typically shows highly aggressive behavior with a high rate of local recurrence, metastases, and death from disease. The hallmark of CCSLTGT is the presence of EWSR1-CREB1 or EWSR1-ATF1 gene fusions, detectable with reverse transcription-polymerase chain reaction (PCR). The aim of this study was to assess all referred cases of CCSLTGT, and document the pathological features, treatment and outcome of these patients. We retrospectively reviewed all cases of histologically- and molecularly-confirmed CCSLTGT with EWSR1-CREB1 or EWSR1-ATF1 fusions at our tertiary sarcoma center, between 2009 and 2016. We assessed six patients diagnosed with CCSLTGT. In a median follow-up of 8 months, all patients received surgery, and additionally one patient was treated with chemotherapy and had progressive disease. Five of six patients experienced recurrence or progression of disease and 4 of 6 patients died of disease. Our study confirms that CCSLTGT is a very rare aggressive sarcoma subtype with a very poor outcome. Greater international collaboration is required to obtain a better understanding of this disease.

Primary pulmonary myxoid sarcoma (PPMS) is a very rare lung tumor that has recently been shown to harbor an EWSR1-CREB1 translocation. However, the histogenesis and biological behavior of PPMS remains unclear. To provide insight into the histogenesis of PPMS, we studied surgical resection specimens of four patients, two females and two males with an age range of 26 to 65 years, all non-smokers with mild anemia. The tumors, three of which are endobronchial, measured between 4 and 13 cm. One patient developed metastasis to the contra-lateral lung 7 months after resection. Other patients remained alive without tumor for 1.5, 10, and 13 years. Fluorescence in situ hybridization (FISH) analysis with a gene break apart probe showed an EWSR1 translocation in all cases. The EWSR1-CREB1 fusion transcript was detected in all cases by reverse-transcription PCR. Immunohistochemical staining showed diffuse positive staining of the tumor cells only for vimentin. Tumor cells expressed no other myoid, epithelial, endothelial, melanocytic, myoepithelial, or neuroendocrine markers, except for smooth muscle actin and epithelial membrane antigen, which were only focally positive in individual cases. Ultrastructural analyses revealed the presence in the tumor cells of intermediate filaments with focal densities along the sub-cytoplasmic membrane as well as dense plaques. These results suggest that PPMS exhibits myofibroblastic differentiation. We conclude that PPMS is an intermediate grade malignant lung tumor harboring EWSR1 translocations, which may originate from mesenchymal cells that undergo fibroblastic or myofibroblastic differentiation.

Background Clear cell sarcoma of soft tissue (CCSST) and clear cell sarcoma-like gastrointestinal tumor (CCSLGT) are malignant mesenchymal tumors that share some pathological features, but they also have several different characteristics. They are well known to express chimeric fusions of Ewing sarcoma breakpoint region 1 ( EWSR1 ) and cAMP response element-binding protein ( CREB ) family members; namely, EWSR1- activating transcription factor 1 ( ATF1 ) and EWSR1-CREB1 . In addition, recent studies have suggested the presence of other fusions. Methods We used fluorescence in situ hybridization to detect specific rearrangements including EWSR1 , ATF1 , CREB1 , and cAMP response element modulator ( CREM ) in 16 CCSST and 6 CCSLGT cases. We also used reverse transcription polymerase chain reaction (RT-PCR) to detect specific chimeric fusions of EWSR1-ATF1 and EWSR1-CREB1 using fresh tumor samples in available cases. Results A total of 15 of 16 CCSST cases (93.8%) had EWSR1 rearrangement, of which 11 (68.8%) also had ATF1 rearrangement, suggestive of the presence of EWSR1-ATF1 fusions. One CCSST case (6.3%) was found to have EWSR1 and CREM rearrangements, and 4 of 6 CCSLGT cases (66.7%) had EWSR1 rearrangement, of which 2 (33.3%) showed ATF1 rearrangement and the other 2 cases (33.3%) showed CREB1 rearrangement. These cases most likely had EWSR1-ATF1 and EWSR1-CREB1 fusions, respectively. RT-PCR was performed in 8 available cases, including 6 CCSSTs and 2 CCSLGTs. All CCSSTs showed EWSR1-ATF1 fusions. Among the 2 CCSLGT cases, one had EWSR1-ATF1 fusion and the other had EWSR1-CREB1 fusion. Conclusions Rearrangements of EWSR1 and ATF1 or EWSR1-ATF1 fusion were predominantly found in CCSST, whereas those of EWSR1 and CREB1 or EWSR1-CREB1 tended to be detected in CCSLGT. A novel CREM fusion was also detected in a few cases of CCSST and CCSLGT. The cases in which EWSR1 rearrangement was detected without definitive partner genes should be considered for the presence of CREM rearrangement.

Angiomatoid fibrosis histiocytoma (AFH) is a rare neoplastic disease. Only one report has demonstrated an intraluminal tumor of the pulmonary artery (PA) corresponding to AFH to date. We describe the case of AFH with EWSR1‐CREB1 fusion occurring in the ascending artery. A 42‐year‐old man exhibited an abnormal nodule on chest computed tomography (CT) during checkup. It revealed an intraluminal mass in the ascending artery with significant metabolic uptake in positron emission tomography (PET)/CT. Therefore, right upper lobectomy with wedge resection of the PA trunk was performed. Histologically, the tumor was multinodular and surrounded by a dense lymphoplasmacytic cuff. Each nodule was composed of myxoid stroma and comprised ovoid or spindle cell fascicles with mild atypia. Fluorescent in situ hybridization (FISH) analysis confirmed EWSR1‐CREB1 fusion. A diagnosed as AFH was made. This report widens the spectrum of differential diagnoses of primary tumors occurring in the PA. Angiomatoid fibrosis histiocytoma (AFH) is a rare neoplastic disease. Only one report has demonstrated an intraluminal tumor of the pulmonary artery trunk corresponding to AFH with ESWR1‐ATF1 fusion to date. This is the first reported case of AFH occurring in the ascending artery with EWSR1‐CREB1 fusion.

Background/Aim: Angiomatoid fibrous histiocytoma (AFH) is a rare soft-tissue tumor that typically occurs in young individuals and often mimics hematomas or sarcomas. Its diagnosis is difficult due to nonspecific histological features, and identification of gene fusions such as EWSR1–CREB1 is crucial. We report a case definitively diagnosed using GenMineTOP, a dual DNA/RNA genomic profiling panel. Case Report: A 61-year-old woman presented with acute onset of pain and swelling in the right popliteal fossa, initially diagnosed as a hematoma. MRI revealed a 10-cm intramuscular mass with heterogeneous signal intensity and fluid-fluid levels. Needle biopsy showed no tumor cells. Despite transient improvement, the mass persisted and anemia worsened, prompting surgical excision. The tumor was resected with marginal margins, and histology revealed large atypical cells with unclear differentiation. Postoperative radiotherapy (60 Gy in 30 fractions) was administered under suspicion of sarcoma. GenMineTOP testing identified an EWSR1–CREB1 fusion gene. Reevaluation confirmed AFH with characteristic lymphoid cuffs and CD68 positivity. One year postoperatively, the patient remains free of recurrence and metastasis. Conclusion: This case underscores the diagnostic challenges of AFH, particularly in older patients with deep-seated lesions mimicking hematomas. Dual DNA/RNA genomic profiling enabled definitive diagnosis and demonstrated its clinical utility in evaluating soft-tissue tumors with ambiguous histopathological features.