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Rotaru V, Chitoran E, Mitroiu MN, Ionescu SO, Neicu A, Cirimbei C, Alecu M, Gelal A, Prie AD, Simion L. Intestinal Clear Cell Sarcoma-A Case Presentation of an Extremely Rare Tumor and Literature Review. MEDICINA (KAUNAS, LITHUANIA) 2024; 60:847. [PMID: 38929464 PMCID: PMC11205295 DOI: 10.3390/medicina60060847] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Track Full Text] [Subscribe] [Scholar Register] [Received: 04/29/2024] [Revised: 05/16/2024] [Accepted: 05/20/2024] [Indexed: 06/28/2024]
Abstract
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.
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Affiliation(s)
- Vlad Rotaru
- General Surgery Department 10, “Carol Davila” University of Medicine and Pharmacy, 050474 Bucharest, Romania
- General Surgery and Surgical Oncology Department I, Bucharest Institute of Oncology “Prof. Dr. Al. Trestioreanu”, 022328 Bucharest, Romania
| | - Elena Chitoran
- General Surgery Department 10, “Carol Davila” University of Medicine and Pharmacy, 050474 Bucharest, Romania
- General Surgery and Surgical Oncology Department I, Bucharest Institute of Oncology “Prof. Dr. Al. Trestioreanu”, 022328 Bucharest, Romania
| | - Madalina Nicoleta Mitroiu
- General Surgery and Surgical Oncology Department I, Bucharest Institute of Oncology “Prof. Dr. Al. Trestioreanu”, 022328 Bucharest, Romania
| | - Sinziana Octavia Ionescu
- General Surgery Department 10, “Carol Davila” University of Medicine and Pharmacy, 050474 Bucharest, Romania
- General Surgery and Surgical Oncology Department I, Bucharest Institute of Oncology “Prof. Dr. Al. Trestioreanu”, 022328 Bucharest, Romania
| | - Ariana Neicu
- Pathology Department, Bucharest Institute of Oncology “Prof. Dr. Al. Trestioreanu”, 022328 Bucharest, Romania
| | - Ciprian Cirimbei
- General Surgery Department 10, “Carol Davila” University of Medicine and Pharmacy, 050474 Bucharest, Romania
- General Surgery and Surgical Oncology Department I, Bucharest Institute of Oncology “Prof. Dr. Al. Trestioreanu”, 022328 Bucharest, Romania
| | - Mihnea Alecu
- General Surgery Department 10, “Carol Davila” University of Medicine and Pharmacy, 050474 Bucharest, Romania
- General Surgery and Surgical Oncology Department I, Bucharest Institute of Oncology “Prof. Dr. Al. Trestioreanu”, 022328 Bucharest, Romania
| | - Aisa Gelal
- General Surgery and Surgical Oncology Department I, Bucharest Institute of Oncology “Prof. Dr. Al. Trestioreanu”, 022328 Bucharest, Romania
| | - Andra Delia Prie
- General Surgery and Surgical Oncology Department I, Bucharest Institute of Oncology “Prof. Dr. Al. Trestioreanu”, 022328 Bucharest, Romania
| | - Laurentiu Simion
- General Surgery Department 10, “Carol Davila” University of Medicine and Pharmacy, 050474 Bucharest, Romania
- General Surgery and Surgical Oncology Department I, Bucharest Institute of Oncology “Prof. Dr. Al. Trestioreanu”, 022328 Bucharest, Romania
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Kumar N, Bhoriwal S, Yadav R, Deo SVS. Clear Cell Sarcoma of Sigmoid Colon: a Rare Malignancy with Common Clinical Manifestations. J Gastrointest Cancer 2021; 51:1070-1073. [PMID: 32385725 DOI: 10.1007/s12029-020-00413-z] [Citation(s) in RCA: 2] [Impact Index Per Article: 0.5] [Reference Citation Analysis] [MESH Headings] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Indexed: 12/30/2022]
MESH Headings
- Adult
- Anemia/etiology
- Anemia/therapy
- Biomarkers, Tumor/analysis
- Biomarkers, Tumor/genetics
- Biopsy
- Colectomy
- Colon, Sigmoid/diagnostic imaging
- Colon, Sigmoid/pathology
- Colon, Sigmoid/surgery
- Colonoscopy
- Cytogenetic Analysis
- Diagnosis, Differential
- Erythrocyte Transfusion
- Gastrointestinal Hemorrhage/etiology
- Gastrointestinal Hemorrhage/therapy
- Humans
- Ileostomy
- Immunohistochemistry
- Intestinal Mucosa/diagnostic imaging
- Intestinal Mucosa/pathology
- Intestinal Mucosa/surgery
- Male
- Rectum
- Sarcoma, Clear Cell/complications
- Sarcoma, Clear Cell/diagnosis
- Sarcoma, Clear Cell/genetics
- Sarcoma, Clear Cell/surgery
- Sigmoid Neoplasms/complications
- Sigmoid Neoplasms/diagnosis
- Sigmoid Neoplasms/genetics
- Sigmoid Neoplasms/surgery
- Tomography, X-Ray Computed
- Treatment Outcome
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Affiliation(s)
- Navin Kumar
- Department of Surgical Oncology, Dr. BRA-IRCH, All India Institute of Medical Sciences, New Delhi, India.
| | - Sandeep Bhoriwal
- Department of Surgical Oncology, Dr. BRA-IRCH, All India Institute of Medical Sciences, New Delhi, India
| | - Rajni Yadav
- Department of Pathology, All India Institute of Medical Sciences, New Delhi, India
| | - S V S Deo
- Department of Surgical Oncology, Dr. BRA-IRCH, All India Institute of Medical Sciences, New Delhi, India
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Zhu P, Zhang T, Bi K, Wu Y, Chen X, Zhang H, Huang D, Zhang L, Zeng Y, Yi X. Primary Clear Cell Sarcoma of the Ileum: A Case Report With Next-Generation Sequencing Analysis. Int J Surg Pathol 2021; 29:677-684. [PMID: 33412984 DOI: 10.1177/1066896920985311] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Indexed: 11/16/2022]
Abstract
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.
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Affiliation(s)
- Peipei Zhu
- Department of Pathology, Tongji Hospital, Tongji University School of Medicine, Shanghai, China
| | - Tingting Zhang
- Department of Pathology, Tongji Hospital, Tongji University School of Medicine, Shanghai, China
| | - Ke Bi
- Department of Pathology, Tongji Hospital, Tongji University School of Medicine, Shanghai, China
| | - Yunjin Wu
- Department of Pathology, Tongji Hospital, Tongji University School of Medicine, Shanghai, China
| | - Xue Chen
- Department of Pathology, Tongji Hospital, Tongji University School of Medicine, Shanghai, China
| | - Haoyang Zhang
- Department of Pathology, Tongji Hospital, Tongji University School of Medicine, Shanghai, China
| | - Dandan Huang
- Department of Pathology, Tongji Hospital, Tongji University School of Medicine, Shanghai, China
| | - Long Zhang
- Department of Pathology, Tongji Hospital, Tongji University School of Medicine, Shanghai, China
| | - Yu Zeng
- Department of Pathology, Tongji Hospital, Tongji University School of Medicine, Shanghai, China
| | - Xianghua Yi
- Department of Pathology, Tongji Hospital, Tongji University School of Medicine, Shanghai, China
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Green C, Spagnolo DV, Robbins PD, Fermoyle S, Wong DD. Clear cell sarcoma of the gastrointestinal tract and malignant gastrointestinal neuroectodermal tumour: distinct or related entities? A review. Pathology 2018; 50:490-498. [PMID: 29970252 DOI: 10.1016/j.pathol.2018.05.001] [Citation(s) in RCA: 23] [Impact Index Per Article: 3.3] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 03/09/2018] [Revised: 05/02/2018] [Accepted: 05/08/2018] [Indexed: 12/18/2022]
Abstract
Clear cell sarcoma is an uncommon sarcoma which rarely occurs as a primary tumour in the gastrointestinal tract (CCS-GIT). It shares common molecular genetic abnormalities with the more recently described entity, malignant gastrointestinal neuroectodermal tumour (GNET) but is distinguished by its morphological and immunohistochemical findings. The exact nosological relationship between these tumours continues to be debated. In this review, we present two cases of these rare neoplasms from our files and perform a statistical comparison of all published cases to determine if significant differences exist in their clinicopathological features and biological behaviour. Thirteen cases of CCS-GIT and 58 of GNET were included. CCS-GIT occurred more commonly in males (84.6% vs 46.6%, p = 0.01) and in an older age group (median 57 vs 33 years, p < 0.01). There was no significant difference in their location in the gastrointestinal tract, median tumour size and proportion of cases with an EWSR1-ATF1 vs EWSR1-CREB1 fusion. Median survival for CCS-GIT was 13.5 months and for GNET, 9.5 months (p = 0.78). There was no significant difference in the Kaplan-Meier survival curves for either time to first metastasis (p = 0.88) or overall survival (p = 0.18), including after controlling for tumour size using regression models. Our analysis confirms that aside from morphological variations between these tumours, they also exhibit epidemiological and clinical differences. Despite the prevalent perception that GNET is associated with a more aggressive clinical course, our findings indicate that there is no significant difference in their biological behaviour, although both clearly share a bleak prognosis. Further experience is awaited to determine optimal treatment strategies and whether CCS-GIT and GNET would differ in their response to various therapies.
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Affiliation(s)
- Celia Green
- Anatomical Pathology, PathWest Laboratory Medicine, QEII Medical Centre, Nedlands, WA, Australia
| | - Dominic V Spagnolo
- Anatomical Pathology, PathWest Laboratory Medicine, QEII Medical Centre, Nedlands, WA, Australia
| | - Peter D Robbins
- Anatomical Pathology, PathWest Laboratory Medicine, QEII Medical Centre, Nedlands, WA, Australia
| | - Soraya Fermoyle
- Anatomical Pathology, PathWest Laboratory Medicine, Fiona Stanley Hospital, Murdoch, WA, Australia
| | - Daniel D Wong
- Anatomical Pathology, PathWest Laboratory Medicine, QEII Medical Centre, Nedlands, WA, Australia; School of Pathology and Laboratory Medicine, University of Western Australia, Crawley, WA, Australia.
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Su H, Liu WS, Ren WH, Wang P, Shi L, Zhou HT. Multiple clear-cell sarcomas of small intestine with parotid gland metastasis: A case report. World J Gastroenterol 2017; 23:2258-2265. [PMID: 28405155 PMCID: PMC5374139 DOI: 10.3748/wjg.v23.i12.2258] [Citation(s) in RCA: 1] [Impact Index Per Article: 0.1] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Track Full Text] [Download PDF] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Received: 12/06/2016] [Revised: 01/23/2017] [Accepted: 02/16/2017] [Indexed: 02/06/2023] Open
Abstract
Clear-cell sarcoma is a rare, malignant soft tissue tumor that displays melanocytic differentiation with a distinct molecular profile. It is rarely localized in the gastrointestinal tract. Herein we reported a case of multiple synchronous clear-cell sarcomas of the gastrointestinal tract with parotid gland metastasis. A 51-year-old male patient presented with a growing painless mass under the right ear. A preoperative positron emission tomography/computed tomography showed multiple intestinal masses and a mass in the right parotid with increased glucose uptake, and he underwent operative treatment with resection of three tumors in the jejunum and ileum and then received a right parotidectomy. Postoperative pathological examination showed that cells in the intestinal tumor were consistent with clear-cell sarcoma of the gastrointestinal tract, and the malignant cells in the parotid gland were similar to the intestinal tumor. Immunohistochemical studies revealed positive expression of HMB-45, Melan-A, and S-100. EWSR1 gene fusion transcripts were undetectable by fluorescence in situ hybridization.
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