Small Intestine Gastrointestinal Clear Cell Sarcoma: A Case Report and Review of the Literature.

Gastrointestinal clear cell sarcoma (GICCS)/malignant gastrointestinal neuroectodermal tumor (GNET) is an extremely rare form of cancer with aggressive clinical behavior. It has distinct pathological, immunohistochemical, ultrastructural, and molecular features. Herein, we present the case of a 20-year-old woman with no notable medical history who presented to the outpatient department with complaints of abdominal pain and vomiting. Symptoms had been evolving for 3 months. The physical examination revealed slight abdominal tenderness and melena. Biological investigations revealed iron-deficiency anemia. The upper and lower endoscopies showed no abnormalities. Magnetic resonance enterography revealed small bowel wall thickening of 15 mm × 2 mm. Exploratory laparotomy revealed an ileal mass with mesenteric lymphadenopathy. A wide resection of the mass was then performed. The final pathological report confirmed the diagnosis of small bowel GICCS/GNET. After 11 months of follow-up, the patient presented with mesenteric lymph node metastases.

Clear cell sarcoma in the post-molar area: Report of an ultra-rare case and literature review of oral clear cell sarcoma.

BACKGROUND: Clear cell sarcoma of soft tissue is an exceptionally rare sarcoma. It is even rarer in the oral cavity. To our knowledge, this case is the first reported clear cell sarcoma involving the post-molar area. Pathologically, clear cell sarcoma has low mitotic activity, rare nuclear pleomorphism, and necrosis. Its biological behavior is often underestimated by morphology. It is a highly aggressive tumor. CASE REPORT: A 39-year-old female presented with an asymptomatic mass in the post-molar area. It was mistaken for a benign or low-grade malignant tumor based on frozen incisional biopsy samples. The surgical resection sample was tested by NGS, which detected a rare EWSR1::CREB1 in clear cell sarcoma. The final diagnosis was made by combining morphological, immunohistochemical, and molecular test results. The patient did not receive any adjuvant therapy after surgery and no recurrence of the disease was detected at 8 months of follow-up. CONCLUSION: The study highlights that mild histological manifestation in the oral cavity should be considered the possibility of CCS affecting young patients. Careful histological investigation, sufficient immunohistochemical staining, and molecular tests are essential to the diagnosis.

Clear cell sarcoma of kidney: A mimicker of Wilms' tumor.

The differential diagnosis for an abdominal mass in a 2-year-old child is broad and includes lesions of renal, hepatic, gastrointestinal, adrenal, and lymphatic origins. Of these, Wilms' tumor and neuroblastoma are the most common tumors, where Wilms' tumor represents about 92% of renal masses in children. Non-Wilms' renal tumors, rhabdoid tumors, and clear cell sarcoma of the kidney (CCSK) are uncommon. CCSK constitutes approximately 3% of all malignant renal tumors in childhood. In this report, we present a child presenting with a huge renal mass consistent with Wilms' tumor on computed tomography and initial biopsy. However, the final pathologic diagnosis after resection revealed CCSK.

Two-Staged Reconstruction of Extensor Tendons After Wide Resection of Clear Cell Sarcoma at the Anterior Ankle: A Case Report.

CASE: A 23-year-old woman sustained a skin defect in the anterior ankle involving the extensor retinaculum (ER) and 10 cm of extensor tendons (ETs) after a wide resection of clear cell sarcoma. The skin defect was reconstructed with free latissimus dorsi flap, ER with tensor fascia lata, and ETs with 2-staged tendon reconstruction using silicone rod interposition, followed by semitendinosus and gracilis tendon grafts. Four years postoperatively, she achieved 92% of ankle and 70% of great toe motion of the contralateral side. CONCLUSION: This reconstruction technique was useful for a large soft-tissue defect at the anterior ankle.

Malignant gastrointestinal neuroectodermal tumor: A case-based review of literature.

Malignant gastrointestinal (GI) neuroectodermal tumor is an extremely rare entity that was first described by Zambrano et al. in 2003 as "clear cell sarcoma (CCS)-like tumor of the GI tract." It shares some of the histopathological features of CCS but lacks the immunohistochemical (IHC) reactivity for melanocytic markers. Most mesenchymal neoplasms of the GI tract belong to the category of GI stromal tumors and are characterized by the IHC expression of c-KIT. In cases, without detectable KIT receptor expression, several differential diagnoses have to be taken into consideration. In this article, we describe such a case and present a review of all the reported cases till date. We also present the current available knowledge on its pathology and molecular genetics along with the limitations in its diagnosis. Here, we report a case of a 32-year-old man with a tumor of the small bowel composed of polygonal tumor cells arranged in solid nests, alveolar pattern, and pseudopapillary and admixed with numerous osteoclast-like multinucleated giant cells. Immunohistochemically, the tumor cells strongly expressed S-100 protein only. HMB-45, melan-A, CD117, cytokeratin, desmin, smooth muscle actin, and CD-34 were absent. Ki-67 index was 15%. The diagnosis was further confirmed by fluorescence in situ hybridization (FISH) demonstrating the presence of EWSR1 (22q12) translocation. A final diagnosis of malignant gastroneuroectodermal tumor was rendered. The patient is disease-free for 20 months of postsurgery. The diagnosis of this entity should be considered in the presence of S-100-positivity and multinucleated osteoclastic giant cells and the absence of melanocytic differentiation in a tumor arising from GI tract. Further confirmation can be done by performing FISH analysis.

Clear cell sarcoma of soft tissue with eccrine differentiation: A case report and review of the literature.

Clear cell sarcoma of soft tissue (CCSST) is a deep soft tissue tumor presenting in the extremities of young adults. Histopathologically, nests and sheets of polygonal cells with clear to eosinophilic cytoplasm separated by fibrous septa as well as occasional "wreath-like" giant cells are visualized. However, CCSST has been noted to have atypical histopathological features, such as epidermotropism or myxoid differentiation, or occurrence at unusual sites. Here, we present a case of eccrine ductal differentiation in CCSST. The patient, a 21-year-old woman, presented with a lump of 10-year duration sized 3 × 5 cm on the plantar surface of the fourth and fifth interdigital spaces. There had been an increase in size as well as pain and redness over 6 years. Besides the characteristic findings, there were ductal structures in continuity with the upper dermis indicative of ductal differentiation. The tumor stained positively for S100, HMB45, and succinic dehydrogenase; ducts stained positively for epithelial membrane antigen (EMA) and carcinoembryonic antigen (CEA). CCSST was confirmed with cytogenetic analysis showing the translocation associated with EWSR1-ATF1 fusion gene. Therefore, ductal differentiation is a unique finding that should be considered when evaluating for CCSST.

Primary Clear Cell Sarcoma of the Ileum: A Case Report With Next-Generation Sequencing Analysis.

As the concept of clear cell sarcoma-like tumor or malignant gastrointestinal neuroectodermal tumor (CCS-LT/MGNET) has been widely accepted, primary CCS of the gastrointestinal tract (CCS-GI) is becoming a rare entity. In this article, we describe a case of primary CCS-GI that occurred in the ileum of a 65-year-old male to further illustrate its rare occurrence. Similar to CCS of soft tissue (CCS-ST), the tumor was composed of spindled to epithelioid cells displaying fascicular, nested, or pseudopapillary arrangement. The tumor cells had large round to ovoid nuclei with vesicular chromatin and prominent nucleoli, containing eosinophilic to pale cytoplasm. In contrast to CCS-LT/MGNET, immunohistochemical study also showed variable positivity of HMB45, melan A, and MiTF besides the strong and diffuse staining of S100 protein and SOX10. Fluorescence in situ hybridization (FISH) using fusion probes identified EWSR1 and ATF1 genes rearrangement. Next-generation sequencing (NGS) analysis further revealed EWSR1 exons9/8-ATF1 exon4 and ATF1 exon3- EWSR1 exon11 fusion genes. CCS-GI and CCS-LT/MGNET possibly represent 2 related entities of the same spectrum, which differentiate along 2 different pathways.

Prognostic analysis of surgically treated clear cell sarcoma: an analysis of a rare tumor from a single center.

BACKGROUND: The objective of this retrospective study was to evaluate the prognostic value of various factors in clear cell sarcoma patients after radical surgery. METHODS: Forty-two clear cell sarcoma patients from August 2006 to March 2018 were included in the study. Curves of disease-free survival and overall survival were calculated using the Kaplan-Meier method, and univariate and multivariate analyses of various prognostic factors were performed using a Cox proportional hazard regression model. Laboratory test of peripheral blood was recorded before surgery. The optimal cutoff value of systemic inflammatory markers was defined by receiver-operating curve analysis. RESULTS: The 5-year DFS and 5-year OS rate were 22% and 46%, respectively. The median DFS and OS times were 12 and 41.5 months, respectively. In univariate analysis, there was a significant association between shorter DFS and tumor size larger than 5 cm (p = 0.0043), positive surgical margin (p = 0.0233), and the neutrophil-to-lymphocyte ratio (NLR) higher than 2.73 (p = 0.0009). Furthermore, we observed a significant association between shorter OS and tumor size larger than 5 cm (p = 0.0075), positive surgical margin (p = 0.0101), NLR higher than 2.73 (p = 0.0126), the platelet-to-lymphocyte ratio (PLR) higher than 103.89 (p = 0.0147) and the lymphocyte-to-monocyte ratio (LMR) lower than 4.2 (p = 0.0445). A multivariate analysis demonstrated that the surgical margin (p = 0.013) and NLR (p = 0.001) were significantly associated with DFS. Tumor size (p = 0.010) and NLR (p = 0.013) were independent prognostic factors for OS. CONCLUSIONS: This study had the second largest sample around the world and preoperative NLR may be a useful prognostic factor in CCS patients after radical surgery.

Primary clear cell sarcoma of the tongue and surgical reconstruction: About a rare case report.

Clear cell sarcomas (SCC), also called "soft-tissue melanoma", are rare and aggressive tumors that preferentially affect the lower limbs (tendons and fasciae) and which have also been described in head and neck localizations. Their clinical and immunohistochemical mimicry with melanoma makes it difficult to diagnose sarcomas. SCC treatment is mainly focused on large-scale resection surgery with adjuvant radiotherapy because of their low chemo-sensitivity and extreme lymphophilia. In case of head and neck localization, these treatments may lead to function and aesthetic sequelae thus requiring the use of modern techniques of reconstructive surgery. The authors describe the diagnosis, treatment and follow-up of large lingual SCC case using a DIEP free flap reconstruction according to an original technique developed in the department. Given the characteristics of patients with SCC (a high proportion of women between 20 and 40 years old) and its inherent qualities (low morbidity of the donor site, volume delivered and excellent plasticity), the fascio-cutaneous free flap type "DIEP" "taken according to the design of the" Cathedral triptych seems to be a viable choice among the range of reconstruction solutions.

Clear-cell sarcoma of tendons and aponeuroses in the right genitofemoral line - a case report.

INTRODUCTION: Our case report presents a rare occurrence of clear cell sarcoma in the genitofemoral line region that has not been described to date. CASE REPORT: A 57-year-old male patient with clear-cell sarcoma of tendons and aponeuroses is presented. The patient underwent a radical operation and adjuvant radiotherapy. CONCLUSION: The patient is still alive, in a good health condition, without local recurrence or generalised disease. Key words: clear-cell sarcoma of tendons and aponeuroses - genitofemoral line.

Regional Lymph Node Metastases in Groin Sarcomas: A Diagnostic and Therapeutic Challenge.

INTRODUCTION: The evaluation of lymph nodes and the role of groin dissection for groin sarcomas has been controversial where there have not been previous studies or guidelines published. In this study, we aim to first formulate a clinical approach in the evaluation of regional lymph nodal metastases. Second, we aim to also evaluate the role of regional lymphadenectomy in the setting of pathologically involved regional lymph nodes for groin sarcomas. MATERIALS AND METHODS: In total, 43 consecutive patients with groin sarcomas underwent treatment at the National Cancer Centre Singapore between 2002 and 2015. Univariate comparisons were performed using the log-rank test. A Cox multivariate analysis was performed for disease-specific survival to identify independent prognostic factors. RESULTS: The median disease-free survival was 18 months (range, 1 to 180 mo). The median overall survival (OS) was 28 months (range, 3 to 180 mo). In total, 28 patients underwent a groin dissection. Of the 28 patients who underwent groin dissections, 15 had negative lymph node involvement, 7 had positive lymph node involvement and 6 had lymphovascular invasion.On univariate analysis, grade (P=0.047) and clinical and/or radiological involvement (P=0.039) were significant for regional lymph nodal metastases.The 5-year OS for patients with positive lymph nodes was 31%. CONCLUSIONS: Our study suggests that the evaluation of lymph nodes via groin dissections in groin sarcomas in the Asian population should be based primarily on clinical and radiologic evidence. Regional lymph node dissection seems to confer OS benefit in patients with these high-risk tumors and can improve local control of disease.

Clear Cell Sarcoma-like Tumor of the Gastrointestinal Tract: Clinical Outcome and Pathologic Features of a Molecularly Characterized Tertiary Center Case Series.

BACKGROUND/AIM: 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. PATIENTS AND METHODS: 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. RESULTS: 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. CONCLUSION: 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.

Malignant gastrointestinal neuroectodermal tumor (clear cell sarcoma-like tumor of the gastrointestinal tract) of the small intestine in a 12-year-old boy.

The aim of this paper is a clinical and anatomopathological demonstration of a malignant lesion, a gastrointestinal neuroectodermal tumor (GNET), as an exceedingly rare cause of ileus in the pediatric population. Specifically, we present the case of a 12-year-old boy who showed dramatic weight loss, hypochromic anemia, fever, dehydration, exaggerated granulation of the terminal ileum, and mechanical ileus due to the obstruction by an intramural tumor of the small intestine. A 50cm-long part of the small intestine with pathological stricture was surgically removed, sampled and routinely fixed and stained with hematoxylin and eosin. The additional immunostains that were preformed were: PAS, S-100, HMB-45, NSE, LCA, CK AE1 / AE3, desmin, SMA, vimentin, CD99, NSE, synaptophysin, WT-1, calretinin, and DOG-1. Moreover, fluorescent in situ hybridization (FISH) with the EWSR1 Break Apart FISH Probe was applied. The neoplasm was composed of nests and alveolar patterns of frankly malignant clear cells with immunoreactivity to S-100, vimentin, and CD 99. The FISH technique detected chromosomal breaking at 22q12. The tumor metastasized to both the mesenteric lymph nodes and a number of hepatic segments. With several chemotherapy protocols, repeat laparotomies, and liver thermal ablations, the patient had a 1.5-year-long survival from the moment of diagnosis. The diagnosis of this malignancy requires both histopathological evaluation and molecular analysis, and the follow-up is based on careful clinical imaging of the neoplastic spread in order to apply proper surgical and oncological treatments. In conclusion, the clinical course of GNET was highly aggressive.

Bladder Recurrence of Clear Cell Sarcoma of the Kidney Seven Years After Initial Presentation.

Clear cell sarcoma of the kidney (CCSK) is the second most common pediatric renal malignancy after Wilms tumor. CCSK has the potential to metastasize to distant sites and was historically known as the bone metastasizing renal tumor. We report an exceedingly rare case of a bladder recurrence of CCSK. Our patient presented with gross hematuria 7 years after initial complete response. He was found to have a large sessile bladder tumor and underwent a partial cystectomy with right pelvic lymph node dissection. Final pathology was metastatic CCSK.

A giant clear cell sarcoma on right scapular: A case report.

Clear-cell sarcoma is a rare and malignant soft tissue tumor most commonly located at the distal end of extremities and rarely at the trunk. Data on the clinical features of the tumor is limited, complicating the analysis of prognosis and establishment of treatment protocols. In our study, we present a case diagnosed with clear-cell sarcoma in his right scapula and treated with tumor resection and chemotherapy, combination of dacarbazine, pharmorubicin and cisplatin. The patient died due to multiple organ failure eight months after operation. Early diagnosis, attentive care, and extended surgical resection combined with adjuvant therapy is of essence in treatment of clear-cell sarcoma.