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He YF. Malignant melanoma: An important differential diagnosis for clear cell sarcoma of the gastrointestinal tract. World J Clin Cases 2024; 12:6664-6668. [PMID: 39650811 PMCID: PMC11514356 DOI: 10.12998/wjcc.v12.i34.6664] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Download PDF] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Received: 03/10/2024] [Revised: 08/13/2024] [Accepted: 08/23/2024] [Indexed: 10/12/2024] Open
Abstract
A case report by Liu et al describes the characteristics of metastatic clear cell sarcoma (CCS) of the pancreas and provides valuable therapeutic insights for this rare malignancy. This case is interesting because of its rarity, suggesting that the pancreas may be a potential target organ for CCS, either primary or metastatic. At the same time, the authors also emphasize the importance of regular postoperative follow-up for timely detection of recurrent lesions, as CCS is characterized by a high degree of malignancy and a high rate of recurrent metastases. Considering that CCS of the gastrointestinal tract is easily confused with malignant melanoma (MM) of the gastrointestinal tract, here we compare the clinical features, histopathological and immunohistochemical characteristics, diagnosis, treatment, and prognosis of CCS and MM of the gastrointestinal tract, hoping to provide a reference for clinical work.
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Affiliation(s)
- Yan-Fei He
- Health Management Center, The Sixth Medical Center, Chinese PLA General Hospital, Beijing 100048, China
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2
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Moreno JC, Uson Junior PLS. Clear cell sarcoma of the pancreas, an unusual cancer with unusual metastatic site or unusual primary site? World J Clin Cases 2024; 12:5653-5656. [PMID: 39247732 PMCID: PMC11263043 DOI: 10.12998/wjcc.v12.i25.5653] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Download PDF] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Received: 03/20/2024] [Revised: 04/29/2024] [Accepted: 05/17/2024] [Indexed: 07/12/2024] Open
Abstract
Clear cell sarcoma (CCS) is a type of malignant tumor that can arise from tendons and aponeuroses. This malignant proliferation of cells with melanocytic lineage normally occurs in young patients, and it is normally identified in extremities. However, different sites including gastrointestinal organs are also described. Due difficulties in the molecular and histopathology evaluation, the diagnosis is often confused with malignant melanoma. Most cases are treated with surgical resection, but overall, the prognosis is poor. In this editorial, we will discuss a very interesting case of CCS identified in the pancreas. We will discuss the literature and controversies in the management of this type of cancer. Furthermore, we will address molecular strategies to be incorporated in those cases to better understand the primary location of the tumor. Finally, future perspectives of the field and new strategies of treatment will be described.
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Affiliation(s)
| | - Pedro Luiz Serrano Uson Junior
- Center for Personalized Medicine, Hospital Israelita Albert Einstein, São Paulo 05652900, Brazil
- Department of Oncology, Hospital do Coração, Sao Paulo 04004030, Brazil
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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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Yang Y, Chang Q, Chen J, Zhou X, Xue Q, Song A. Construction of a Health Management Model for Early Identification of Ischaemic Stroke in Cloud Computing. JOURNAL OF HEALTHCARE ENGINEERING 2022; 2022:1018056. [PMID: 35360481 PMCID: PMC8964206 DOI: 10.1155/2022/1018056] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [MESH Headings] [Track Full Text] [Download PDF] [Figures] [Subscribe] [Scholar Register] [Received: 12/17/2021] [Revised: 01/21/2022] [Accepted: 03/03/2022] [Indexed: 11/17/2022]
Abstract
Knowledge discovery and cloud computing can help early identification of ischaemic stroke and provide intelligent, humane, and preventive healthcare services for patients at high risk of stroke. This study proposes constructing a health management model for early identification and warning of ischaemic stroke based on IoT and cloud computing, and discusses its connotation, constructive ideas, and research content so as to provide reference for its health management in order to develop and implement countermeasures and to compare the awareness of early stroke symptoms and first aid knowledge among stroke patients and their families before and after the activity. The rate of awareness of early symptoms and first aid among stroke patients and their families increased from 36% to 78%, and the difference was statistically significant (P < 0.05) before and after the activity.
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Affiliation(s)
- Yuying Yang
- Stroke Center Office, The First Affiliated Hospital of Hebei North University, Zhangjiakou, Hebei 075000, China
| | - Qing Chang
- Department of Neurology, The First Affiliated Hospital of Hebei North University, Zhangjiakou, Hebei 075000, China
| | - Jing Chen
- Imaging Department, The First Affiliated Hospital of Hebei North University, Zhangjiakou, Hebei 075000, China
| | - Xiangkun Zhou
- Information Section, The First Affiliated Hospital of Hebei North University, Zhangjiakou, Hebei 075000, China
| | - Qian Xue
- Department of Neurology, The First Affiliated Hospital of Hebei North University, Zhangjiakou, Hebei 075000, China
| | - Aixia Song
- Department of Neurology, The First Affiliated Hospital of Hebei North University, Zhangjiakou, Hebei 075000, China
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5
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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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Okada T, Hirano Y, Ishikawa S, Kondo H, Ishii T, Yamaguchi S. A long-term survivor of clear cell sarcoma-like tumor of the gastrointestinal tract with liver metastasis: a case report. Surg Case Rep 2020; 6:260. [PMID: 33025168 PMCID: PMC7538498 DOI: 10.1186/s40792-020-01028-z] [Citation(s) in RCA: 7] [Impact Index Per Article: 1.4] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Received: 06/18/2020] [Accepted: 09/23/2020] [Indexed: 01/10/2023] Open
Abstract
Background Clear cell sarcoma-like tumor of the gastrointestinal tract (CCSLTGT) is extremely rare. It is a mesenchymal neoplasm that usually forms in the small intestine of adolescents and young adults, is prone to local recurrence and metastasis, and has a high mortality rate. We report a patient with CCSLTGT with lymph node- and liver metastases, who continues to survive 6 years after initial surgical resection. Case presentation A 38-year-old woman presented with lightheadedness. Laboratory analysis revealed anemia (hemoglobin, 6.7 g/dL), and enhanced computed tomography (CT) demonstrated a mass in the small intestine, about 6 cm in diameter, with swelling of 2 regional lymph nodes. Double-balloon small intestine endoscopic examination revealed a tumor accompanied by an ulcer; the biopsy findings suggested a primary cancer of the small intestine. She was admitted, and we then performed a laparotomy for partial resection of the small intestine with lymph node dissection. Pathologic examination revealed CCSLTGT with regional lymph node metastases. About 3 years later, follow-up CT revealed a single liver metastasis. Consequently, she underwent a laparoscopic partial liver resection. Histopathologic examination confirmed that the liver metastasis was consistent with CCSLTGT. It has now been 3 years without a recurrence. Conclusion Repeated radical surgical resection with close follow-up may be the only way to achieve long-term survival in patients with CCLSTGT.
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Affiliation(s)
- Takuhisa Okada
- Department of Gastroenterological Surgery, Saitama Medical University International Medical Center, 1397-1, Yamane, Hidaka-City, Saitama-Pref, 350-1298, Japan. .,Department of General Surgical Science, Gunma University Graduate School of Medicine, 3-39-22 Showa-Machi, Maebashi-City, Gunma-Pref, 371-8511, Japan.
| | - Yasumitsu Hirano
- Department of Gastroenterological Surgery, Saitama Medical University International Medical Center, 1397-1, Yamane, Hidaka-City, Saitama-Pref, 350-1298, Japan
| | - Shintaro Ishikawa
- Department of Gastroenterological Surgery, Saitama Medical University International Medical Center, 1397-1, Yamane, Hidaka-City, Saitama-Pref, 350-1298, Japan
| | - Hiroka Kondo
- Department of Gastroenterological Surgery, Saitama Medical University International Medical Center, 1397-1, Yamane, Hidaka-City, Saitama-Pref, 350-1298, Japan
| | - Toshimasa Ishii
- Department of Gastroenterological Surgery, Saitama Medical University International Medical Center, 1397-1, Yamane, Hidaka-City, Saitama-Pref, 350-1298, Japan
| | - Shigeki Yamaguchi
- Department of Gastroenterological Surgery, Saitama Medical University International Medical Center, 1397-1, Yamane, Hidaka-City, Saitama-Pref, 350-1298, Japan
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Askan G, Kombak FE, Seven IE, Basturk O. Clear Cell Sarcoma-Like Tumor of the Gastrointestinal Tract. J Gastrointest Cancer 2020; 50:651-656. [PMID: 29623567 DOI: 10.1007/s12029-018-0069-4] [Citation(s) in RCA: 10] [Impact Index Per Article: 2.0] [Reference Citation Analysis] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Indexed: 12/17/2022]
Affiliation(s)
- Gokce Askan
- Department of Pathology, Memorial Sloan Kettering Cancer Center, 1275 York Avenue, New York, NY, 10021, USA
| | - Faruk Erdem Kombak
- Department of Pathology, Marmara University School of Medicine, Istanbul, Turkey
| | - Ipek Erbarut Seven
- Department of Pathology, Marmara University School of Medicine, Istanbul, Turkey
| | - Olca Basturk
- Department of Pathology, Memorial Sloan Kettering Cancer Center, 1275 York Avenue, New York, NY, 10021, USA.
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Sharma K, Yadav SK, Valluru B, Liu L. Significance of MRI in the diagnosis and differentiation of clear cell sarcoma of tendon and aponeurosis (CCSTA): A case report. Medicine (Baltimore) 2018; 97:e11012. [PMID: 30075493 PMCID: PMC6081126 DOI: 10.1097/md.0000000000011012] [Citation(s) in RCA: 3] [Impact Index Per Article: 0.4] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Indexed: 11/26/2022] Open
Abstract
RATIONALE Clear cell sarcoma of tendon and aponeurosis (CCSTA) or soft parts is a rare malignant melanin producing tumor entity that is derived from the neural crest cells originating from soft tissues displaying melanocytic differentiation. Diagnosis of CCSTA is difficult as it is dependent on age, size, location, necrosis, calcifications, cystic degeneration, and local to distant metastatic deposits. These tumors have very poor prognosis with a survival rate of 5-10 years because of local recurrence, early to late metastasis to lymph nodes, lungs, bones, and liver. PATIENT CONCERNS A 30-year-old Asian male has presented with a painful mass in the posterior aspect of the right ankle. He recalled of noticing an increase in the size of the lump after a traumatic insult 3 months ago. Physical examination revealed a mass of size 9x4 cm in the posterior ankle with no cutaneous ulcerative lesions. There is no history of any longstanding illness or malignancy. DIAGNOSES Clear cell Sarcoma of Tendon and Aponeurosis (CCSTA) or CCS of Soft parts. INTERVENTIONS Conventional radiography demonstrated merely a soft tissue mass in the posterior compartment of the right ankle and significant calcaneal bone erosion with the sparse trabecular pattern. Plain conventional tomography showed a well-defined soft tissue heterogeneous mass with a hypoattenuating osteo-destructive focal lesion in the calcaneus. Magnetic resonance imaging (MRI) - T1 weighted imaging (T1WI) revealed an iso-intense signal relative to adjacent muscle; heterogeneous high-signal intensity on fat saturated T2 weighted imaging (T2WI). On contrast examination, lesion on T1WI, showed a heterogeneous high signal intensity, central low signal intensity with peripheral and septal enhancement. The immune-histochemistry analysis was positive for HMB-45, S-100, myoD1 and Ki67 (30%). Correlating with imaging and immune-histochemistry, a confirmatory diagnosis of CCSTA was made. OUTCOMES CCSTA is typically a slowly growing painless mass in the deep soft tissues of ear, pancreas, kidney, penis, abdomen, especially in the lower extremities- Achilles tendon and aponeurosis of the ankle or in foot of young adults. As, these tumors are highly malignant, difficult to diagnose, early recognition by imaging and surgical excision are the mainstay of management. LESSONS Our case emphasizes the importance of recognizing radiological characteristics of CCSTA, and its differentiation from other soft tissue tumors, when presenting atypically. MRI plays a significant role in the diagnosis supported by histopathology and immune-histochemistry. So, radiologists should be familiar about this presentation that could guide other personnel for early detection of soft tissue tumors while including CCSTA into differential diagnosis for evaluation.
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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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10
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Yegen G, Güllüoğlu M, Mete Ö, Önder S, Kapran Y. Clear Cell Sarcoma–Like Tumor of the Gastrointestinal Tract. Int J Surg Pathol 2014; 23:61-7. [DOI: 10.1177/1066896914547046] [Citation(s) in RCA: 16] [Impact Index Per Article: 1.5] [Reference Citation Analysis] [Abstract] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Indexed: 12/13/2022]
Abstract
Clear cell sarcoma is a rare tumor classically associated with tendons and aponeuroses of lower extremities of young adults and has a distinctive histopathologic and molecular profile. It has been rarely described in other locations other than soft tissues, including the gastrointestinal tract. Herein we report a case of clear cell sarcoma of gastrointestinal tract arising in the ileum, which is rich in osteoclast-like giant cells with a review of the literature.
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Affiliation(s)
| | | | - Özgür Mete
- University of Toronto, Toronto, Ontario, Canada
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Ishii D, Inagaki M, Shonaka T, Akabane H, Yanagida N, Shomura H, Orimo T, Aiyama T, Sato K, Nakano S. Clear cell sarcoma of the esophagus: report of a case. Clin J Gastroenterol 2014; 7:228-32. [PMID: 26183741 DOI: 10.1007/s12328-014-0479-1] [Citation(s) in RCA: 2] [Impact Index Per Article: 0.2] [Reference Citation Analysis] [Abstract] [Track Full Text] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Received: 02/03/2014] [Accepted: 03/12/2014] [Indexed: 01/19/2023]
Abstract
We report a rare case of clear cell sarcoma of the esophagus and review the literature regarding clear cell sarcomas of the gastrointestinal tract. A 57-year-old male was admitted with dysphagia during swallowing. Preoperative imaging studies, including upper gastrointestinal endoscopy and endoscopic ultrasonography, showed that the tumor was located between the mucosa and the muscularis propria of the lower esophagus. We performed subtotal esophagectomy with gastric tube reconstruction. Pathological findings of the tumor showed mixed spindle cells and oval cells. Immunohistochemical staining showed that the tumor cells were positive for S-100, vimentin and neuron-specific enolase and negative for α-smooth muscle actin, myoglobin and c-kit. Fluorescence in situ hybridization using a Ewing sarcoma breakpoint region 1 probe showed split signals in a small percentage of cells. We finally diagnosed the patient with clear cell sarcoma of the esophagus.
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Affiliation(s)
- Daisuke Ishii
- Division of Surgery, Hokkaido P.W.F.A.C Asahikawa-Kosei General Hospital, 1 Jo 24 Chome 111, 1 Jodori, Asahikawa, 078-8211, Japan,
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12
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Malignant gastrointestinal neuroectodermal tumor: clinicopathologic, immunohistochemical, ultrastructural, and molecular analysis of 16 cases with a reappraisal of clear cell sarcoma-like tumors of the gastrointestinal tract. Am J Surg Pathol 2012; 36:857-68. [PMID: 22592145 DOI: 10.1097/pas.0b013e31824644ac] [Citation(s) in RCA: 148] [Impact Index Per Article: 11.4] [Reference Citation Analysis] [Abstract] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Indexed: 02/07/2023]
Abstract
The clinical, histologic, immunophenotypic, ultrastructural, and molecular features of a distinctive gastrointestinal tumor are described. Sixteen patients, 8 women and 8 men aged 17 to 77 years (mean age, 42 y; 63% less than 40 y) presented with abdominal pain, intestinal obstruction, and an abdominal mass. Mean tumor size was 5.2 cm (range, 2.4 to 15.0 cm). The tumors arose in the small bowel (10), stomach (4), and colon (2) and were histologically characterized by a sheet-like or nested population of epithelioid or oval-to-spindle cells with small nucleoli and scattered mitoses. Five cases showed focal clearing of the cytoplasm. Scattered osteoclast-type multinucleated giant cells were present in 8 cases. The tumor cells were positive for S-100 protein, SOX10, and vimentin in 100% of cases, for CD56 in 70%, for synaptophysin in 56%, for NB84 in 50%, for NSE in 45%, and for neurofilament protein in 14% of cases. All cases tested were negative for specific melanocytic, gastrointestinal stromal tumors, epithelial, and myoid markers. Ultrastructural examination of 5 cases showed features of primitive neuroectodermal cells with clear secretory vesicles, dense-core granules, occasional gap junctions, and no evidence of melanogenesis. EWSR1 gene rearrangement was assessed by fluorescence in situ hybridization in 14 cases. Twelve cases (86%) showed split EWSR1 signal consistent with a chromosomal translocation involving EWSR1. One case showed extra intact signals, indicating that the nuclei possessed either extra copies of the EWSR1 gene or chromosome 22 polysomy. Only 1 case showed no involvement of the EWSR1 gene. Six cases demonstrated rearrangement of the partner fusion gene ATF1 (46%), and 3 showed rearrangement of CREB1 (23%); 2 cases lacked rearrangement of either partner gene. Clinical follow-up was available in 12 patients and ranged from 1.5 to 106 months. Six patients died of their tumors (mean survival, 32 mo; 83% less than 24 mo). At last follow-up, 4 patients were alive with regional, lymph node, and liver metastases, and 2 patients were alive with no evidence of disease. The tumor described here is an aggressive form of neuroectodermal tumor that should be separated from other primitive epithelioid and spindle cell tumors of the gastrointestinal tract. The distinctive ultrastructural features and absence of melanocytic differentiation serve to separate them from soft tissue clear cell sarcomas involving the gastrointestinal tract. The designation "malignant gastrointestinal neuroectodermal tumor" is proposed for this tumor type.
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D'Amico FE, Ruffolo C, Romeo S, Massani M, Dei Tos AP, Bassi N. Clear cell sarcoma of the ileum: report of a case and review of the literature. Int J Surg Pathol 2011; 20:401-6. [PMID: 22207412 DOI: 10.1177/1066896911428073] [Citation(s) in RCA: 21] [Impact Index Per Article: 1.5] [Reference Citation Analysis] [Abstract] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Indexed: 12/12/2022]
Abstract
INTRODUCTION Clear cell sarcoma of the gastrointestinal tract (CCS-GI) is an extremely rare and aggressive tumor, which often mimics other neoplastic processes. Because of this feature, its real incidence may have been underestimated, especially in the past when genetic tests were less available than nowadays. To date, less then 30 cases have been described in the literature on the GI tract. CASE PRESENTATION We report the case of a 69-year-old woman who presented with active rectal bleeding. After a negative colonoscopy, the patient underwent a video-capsule endoscopy. The latter detected an ileal mass that was surgically resected. The microscopic appearance was consistent with a malignant mesenchymal neoplasm; immunohistochemistry was positive for S100 protein, CD56, and INI1. Fluorescence in situ hybridization showed a translocation involving the EWSR1 (Ewing sarcoma 1) gene region. All these findings were consistent with a CCS-GI. CONCLUSION Herein we present a case of CCS-GI, discuss its clinical and pathological features, and review the literature on the subject.
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Affiliation(s)
- Francesco E D'Amico
- II Department of Surgery (IV unit), Regional Hospital Ca' Foncello, Treviso, Italy.
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14
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Shenjere P, Salman WD, Singh M, Mangham DC, Williams A, Eyden BP, Howard N, Knight B, Banerjee SS. Intra-abdominal clear-cell sarcoma: a report of 3 cases, including 1 case with unusual morphological features, and review of the literature. Int J Surg Pathol 2011; 20:378-85. [PMID: 22084426 DOI: 10.1177/1066896911425485] [Citation(s) in RCA: 23] [Impact Index Per Article: 1.6] [Reference Citation Analysis] [Abstract] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Indexed: 12/12/2022]
Abstract
Clear-cell sarcoma (CCS) is a soft-tissue neoplasm that morphologically resembles cutaneous malignant melanoma but has a distinct molecular profile. Gastrointestinal and intra-abdominal CCSs are very rare. Here, the authors present 3 cases of intra-abdominal CCS and review the literature. Of these cases, 2 involved the small bowel, and 1 involved the peritoneum. Cases 1 and 3 had the characteristic CCS morphology, but case 2 was morphologically unusual and therefore difficult to diagnose. It had relatively small cells with less prominence of clear cells; many pseudoglandular structures were also present. It also showed aberrant expression of epithelial membrane antigen (EMA). The other 2 cases also involved some diagnostic uncertainty and were therefore referred to specialized centers. The authors wish to emphasize the importance of molecular studies in making a conclusive diagnosis of intra-abdominal CCS.
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Affiliation(s)
- Patrick Shenjere
- Department of Histopathology, The Christie NHS Foundation Trust, Manchester, UK.
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Abstract
Clear cell sarcoma (CCS) is a high grade soft tissue sarcoma with a distinct molecular profile. Gastrointestinal CCS is very rare and most reported cases are in adults. We describe a 10-year-old female with a 4-month history of anemia who later developed fever, weight loss and abdominal pain. She was subsequently found to have a large infiltrative gastric mass. A diagnosis of CCS was confirmed by molecular and cytogenetic studies. This case illustrates the necessity of a multimodal approach, particularly the use of molecular studies, in the diagnostic evaluation of rare tumors presenting in unusual sites.
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Affiliation(s)
- Joanne P Lagmay
- Department of Pediatrics, The Ohio State University College of Medicine, Columbus, Ohio, USA.
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Tirabosco R, Lang-Lazdunski L, Diss TC, Amary MFC, Rodriguez-Justo M, Landau D, Lorenzi W, Flanagan AM. Clear cell sarcoma of the mediastinum. Ann Diagn Pathol 2009; 13:197-200. [DOI: 10.1016/j.anndiagpath.2008.02.014] [Citation(s) in RCA: 11] [Impact Index Per Article: 0.7] [Reference Citation Analysis] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Indexed: 11/29/2022]
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17
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Gastrointestinal melanoma or clear cell sarcoma? Molecular evaluation of 7 cases previously diagnosed as malignant melanoma. Am J Surg Pathol 2008; 32:858-66. [PMID: 18408594 DOI: 10.1097/pas.0b013e31815b8288] [Citation(s) in RCA: 49] [Impact Index Per Article: 2.9] [Reference Citation Analysis] [Abstract] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Indexed: 12/14/2022]
Abstract
Clear cell sarcoma (CCS) is a rare tumor classically associated with the tendons and aponeuroses of distal extremities of young adults. CCS and malignant melanoma (MM) share immunohistochemical profiles and ultrastructural features, but classic CCS has characteristic morphology with low mitotic activity and minimal pleomorphism. Occasional cases show pleomorphism, high mitotic index, and/or melanin pigmentation, making CCS indistinguishable from MM based on morphology. However, CCS is genetically distinct owing to its consistent association with a t(12;22)(q13;q12) chromosomal translocation, leading to the formation of the EWS/ATF1 fusion transcript. This translocation has never been documented in cutaneous melanoma, and thus is regarded as specific for CCS. Recent evidence suggests that primary "malignant melanomas" in unusual anatomic sites, most notably the gastrointestinal (GI) tract, may be CCS. This is supported by 11 cases of primary GI CCS with the t(12;22) translocation. We used reverse-transcription polymerase chain reaction and fluorescence in situ hybridization to examine whether a proportion of cases diagnosed as MM of the GI tract in patients without a history of cutaneous MM actually represent primary GI CCS. In total, we examined 7 cases: Four with no prior history of MM, 2 with histories of cutaneous MM, and 1 with an anal MM. All 4 cases for which there was no history of cutaneous/mucosal MM harbored the EWS/ATF1 fusion transcript. We report the largest series of GI CCS and have shown that molecular studies may be warranted in cases that otherwise seem to represent MM of unusual primary locations.
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Marcon N, Montagne K, Corby S, Ayav A, Plénat F, Champigneulle J. Sarcome à cellules claires primitif de l’iléon. Ann Pathol 2007; 27:369-72. [DOI: 10.1016/s0242-6498(07)78276-7] [Citation(s) in RCA: 1] [Impact Index Per Article: 0.1] [Reference Citation Analysis] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Indexed: 10/22/2022]
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Comin CE, Novelli L, Tornaboni D, Messerini L. Clear cell sarcoma of the ileum: report of a case and review of literature. Virchows Arch 2007; 451:839-45. [PMID: 17636326 DOI: 10.1007/s00428-007-0454-z] [Citation(s) in RCA: 39] [Impact Index Per Article: 2.2] [Reference Citation Analysis] [Abstract] [MESH Headings] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 02/28/2007] [Accepted: 03/06/2007] [Indexed: 12/23/2022]
Abstract
Clear cell sarcoma (CCS) is a high grade soft tissue sarcoma with a distinct molecular profile and with morphological features resembling those of melanoma. CCS has been rarely described in other locations other than the soft tissues, including the gastrointestinal tract. In this study, we report a case of CCS arising in the ileum of a 31-year-old woman. Histologically, the tumor involved the entire thickness of the intestinal wall. Tumor cells were polygonal or fusiform, with clear or eosinophilic cytoplasm, arranged in a uniform nested to fascicular growth pattern. Immunohistochemical studies revealed strong positivity for vimentin and S-100 protein. HMB-45, Melan-A, tyrosinase, cytokeratins, EMA, smooth muscle actin, CD34, CD31, CD117, CD99, synaptophysin, chromogranin A, CD56, and NSE were negative. Fluorescence in situ hybridization analysis demonstrated the presence of a t(12;22)(q13;q12) translocation, the diagnostic hallmark of CCS of soft parts. The present case, together with a detailed review of the literature on this topic, demonstrates that the gastrointestinal tract is a possible site of CCS of soft tissues and that making a reliable diagnosis of this tumor requires cytogenetic or molecular diagnostic investigations.
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Affiliation(s)
- Camilla E Comin
- Dipartimento di Patologia Umana ed Oncologia, Università degli Studi di Firenze, V.le Morgagni, 85, 50134 Firenze, Italy.
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Abstract
Soft tissue tumours represent a heterogeneous group of mesenchymal lesions and their classification continues to evolve as a result of incorporating advances in cytogenetic and molecular techniques. In the last decade traditional diagnostic approaches were supplemented with a significant number of reliable molecular diagnostic tools, detecting tumour type-specific genetic alterations. In addition, the successful application of some of these techniques to formalin-fixed paraffin-embedded tissue made it possible to subject a broader range of clinical material to molecular analysis. Thus, molecular genetics has already become an integral part of the work-up in some tumours, such as paediatric small blue round cell tumours, which demonstrate characteristic translocations. Several lines of evidence suggest that sarcomas can be divided into two major genetic groups: (i) sarcomas with specific genetic alterations and usually simple karyotypes, such as reciprocal chromosomal translocations (e.g. FUS-DDIT3 in myxoid liposarcoma) and specific oncogenic mutations (e.g. KIT mutation in gastrointestinal stromal tumours); and (i) sarcomas with non-specific genetic alterations and complex unbalanced karyotypes. Some of these genetic abnormalities, including chromosomal numerical changes, translocations, gene amplifications or large deletions can be apparent at the cytogenetic level (karyotyping, fluorescence in situ hybridization), while others, such as small deletions, insertions or point mutations, require molecular genetic techniques (polymerase chain reaction and sequence analysis). This review focuses on the applicability of genetic testing in the diagnosis and prognosis of soft tissue sarcomas, and gives a realistic appraisal of the ancillary role of molecular techniques, including its advantages and limitations.
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Affiliation(s)
- C R Antonescu
- Department of Pathology, Memorial Sloan-Kettering Cancer Center, 1275 York Avenue, New York, NY, USA.
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Taminelli L, Zaman K, Gengler C, Peloponissios N, Bouzourene H, Coindre JM, Hostein I, Guillou L. Primary clear cell sarcoma of the ileum: an uncommon and misleading site. Virchows Arch 2005; 447:772-7. [PMID: 16021514 DOI: 10.1007/s00428-005-0019-y] [Citation(s) in RCA: 48] [Impact Index Per Article: 2.4] [Reference Citation Analysis] [Abstract] [MESH Headings] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 02/27/2005] [Accepted: 05/23/2005] [Indexed: 12/20/2022]
Abstract
A clear cell sarcoma, arising primarily in the ileum of a 35-year-old man, is reported. Histologically, the neoplasm infiltrated the full thickness of the intestinal wall. It consisted of strands and sheets of round to spindle-shaped cells with clear to eosinophilic cytoplasm, vesicular nuclei and prominent nucleoli. Vascular invasion was present at diagnosis. Tumour cells expressed S-100 protein, melan-A and tyrosinase. They were negative for HMB45, CD117, cytokeratins, epithelial membrane antigen, smooth muscle actin, desmin, CD31, CD34, chromogranin and synaptophysin. Reverse transcription-polymerase chain reaction analysis performed on paraffin-embedded tissue showed EWS-ATF1 fusion transcripts representative of the t(12;22) (q13;q12) clear cell sarcoma reciprocal translocation. The patient, who developed liver metastases 2 months after diagnosis, died of disease at 15 months. This case demonstrates that the gastrointestinal tract is a potential site for primary clear cell sarcoma of soft tissues, and, furthermore, that cytogenetics and/or molecular techniques play a central role in the diagnosis.
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