Gastrointestinal clear cell sarcoma-like tumour of the ascending colon

Introduction A clear cell sarcoma-like gastrointestinal tumour (CCSLGT) is a rare malignant soft tissue sarcoma. In the literature, they are sometimes referred to as malignant gastrointestinal neuroectodermal tumours, clear cell sarcomas or osteoclast rich tumours of the gastrointestinal tract. Case history We present a case of a CCSLGT arising from the ascending colon of a previously well 22-year-old man presenting with abdominal pain and anaemia. Computed tomography of the abdomen and pelvis showed a 7cm irregular mass in the right flank that seemed to emerge from the proximal transverse colon. A laparoscopic right hemicolectomy was undertaken to remove the mass. Microscopic pathological examination of the specimen revealed sections of spindle to oval cells with monomorphic nuclei and scant cytoplasm. The cells were arranged in a striking perivascular growth pattern with microcytic breakdown and pseudopapillary formation. Immunohistochemistry analysis showed that the tumour cells removed expressed S100 protein, and were negative for smooth muscle actin, desmin, CD34, CD117, DOG1, HMB-45 and MNF116. Additionally, cytogenetic testing identified EWSR1 gene rearrangement, which was observed by interphase fluorescence in situ hybridisation. Conclusions A complex tumour, a CCSLGT can be thought of in simple terms as a gastrointestinal tract tumour that is S100 protein positive, osteoclast rich, HMB-45 negative and compromises a t(12;22)(q13;q12) gene translocation. These simplified CCSLGT characteristics seem to be described and classified under different aliases in the literature, which makes it difficult to accurately predict the appropriate diagnostic and therapeutic modality required to provide the best clinical care. Given that this case report describes the fourth CCSLGT of primary colonic origins, it may aid future targeted therapies as well as offering epidemiological evidence on prevalence and prognosis.

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Clear Cell Sarcoma–like Tumor of the Gastrointestinal Tract: An Evolving Entity

Archives of Pathology & Laboratory Medicine ◽

10.5858/arpa.2013-0547-rs ◽

2015 ◽

Vol 139 (3) ◽

pp. 407-412 ◽

Cited By ~ 34

Author(s):

Jayson Wang ◽

Khin Thway

Keyword(s):

Gastrointestinal Tract ◽

Clear Cell ◽

S100 Protein ◽

Malignant Neoplasm ◽

Clear Cell Sarcoma ◽

Current Status ◽

Gene Fusions ◽

Epithelioid Cells ◽

Cell Sarcoma ◽

Clear Cytoplasm

Clear cell sarcoma–like tumor of the gastrointestinal tract (CCSLGT) is a rare malignant neoplasm that occurs in the wall of the small bowel, stomach, or large bowel, predominantly in young adults. It is an aggressive neoplasm that frequently presents with metastatic disease and has a high mortality rate. Histologically, it is usually composed of medium-sized primitive ovoid or epithelioid cells with pale or clear cytoplasm that are arranged in sheets or in papillary or alveolar architectures. Clear cell sarcoma–like tumor of the gastrointestinal tract is positive for S100 protein, invariably negative for melanocyte-specific markers and is often also positive for neuroendocrine markers. The etiology of CCSLGT is unknown, but many studies have shown associations with EWSR1-CREB1 gene fusions and, less frequently, with EWSR1-ATF1 fusions. Here, we discuss the current status of CCSLGT, including histologic, immunophenotypic, and molecular findings.

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A new case of cutaneous melanocytoma harbouring the CRTC1‐TRIM11 fusion: case report

10.21203/rs.3.rs-108096/v1 ◽

2020 ◽

Author(s):

Achraf Miry ◽

Asmae Aissaoui ◽

Samia Malki ◽

Youssef Bouhahyaoui ◽

Amal Bennani ◽

...

Keyword(s):

Clear Cell ◽

S100 Protein ◽

Clear Cell Sarcoma ◽

Pathological Examination ◽

Resected Specimen ◽

Tumour Resection ◽

Dermatology Department ◽

Cell Sarcoma ◽

Melanocytic Tumors ◽

One Year

Abstract Background: The diagnosis of dermal primary and metastatic melanocytic tumors is often problematic. Recently, a new entity has been proposed, cutaneous melanocytoma with CRTC1‐TRIM11 fusion (CMCT). Case presentation: We report the 11th case of cutaneous melanocytoma harbouring the CRTC1-TRIM11 fusion. The patient is a 35‐year‐old female patient, with no particular history, who presented in the dermatology department for a 1.5cm nodular lesion on the dorsal aspect of the left foot. The lesion evolved for more than one year. She underwent tumour resection for clinical suspicion of malignant melanoma. Pathological examination of the resected specimen after H&E stain revealed a dermal symmetrical proliferation made of spindle cells showing a melanocytic differentiation proved by expression of Melan A, S100 protein and SOX10. FISH study helped exclude a clear cell sarcoma. RNA sequencing showed the CRTC1-TRIM11 fusion.Conclusions: Since only 11 cases have been documented, and because of the overlap with the clear cell sarcoma, the characterization of CMCT is still not fully satisfactory.

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A long-term survivor of clear cell sarcoma-like tumor of the gastrointestinal tract with liver metastasis: a case report

Surgical Case Reports ◽

10.1186/s40792-020-01028-z ◽

2020 ◽

Vol 6 (1) ◽

Author(s):

Takuhisa Okada ◽

Yasumitsu Hirano ◽

Shintaro Ishikawa ◽

Hiroka Kondo ◽

Toshimasa Ishii ◽

...

Keyword(s):

Small Intestine ◽

Lymph Node ◽

Gastrointestinal Tract ◽

Liver Metastasis ◽

Surgical Resection ◽

Clear Cell ◽

Clear Cell Sarcoma ◽

Cell Sarcoma

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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Clear Cell Sarcoma of Tendons and Aponeuroses: A Review

Archives of Pathology & Laboratory Medicine ◽

10.5858/2007-131-152-ccsota ◽

2007 ◽

Vol 131 (1) ◽

pp. 152-156 ◽

Cited By ~ 2

Author(s):

Daniel C. Dim ◽

Linda D. Cooley ◽

Roberto N. Miranda

Keyword(s):

Clear Cell ◽

Current Knowledge ◽

S100 Protein ◽

Clear Cell Sarcoma ◽

Prognostic Indicators ◽

Gene Transcript ◽

Poor Overall Survival ◽

Regional Lymph Nodes ◽

Cell Sarcoma ◽

Eosinophilic Cytoplasm

Abstract Clear cell sarcoma of tendons and aponeuroses, also referred to as malignant melanoma of soft parts, is a rare malignancy derived from neural crest cells. It usually presents in the distal lower extremities of young adults, frequently attached to tendons or aponeuroses. It behaves like a high-grade soft tissue sarcoma and is associated with poor overall survival. Magnetic resonance imaging studies of the lesion reveal T1 hypointensity, T2 hyperintensity, and gadolinium uptake. Grossly, the tumor is usually circumscribed with a histologic pattern of uniform polygonal to fusiform cells with clear to pale eosinophilic cytoplasm divided into variably sized clusters by fibrous septa. Immunohistochemical studies in most cases show that the neoplastic cells are positive with HMB-45 and react with antibody against S100 protein. Most cases show a reciprocal cytogenetic translocation t(12;22)(q13;q12) that creates a unique chimeric fusion EWSR1/ATF1 gene transcript. Metastasis occurs mainly to regional lymph nodes and lungs. Poor prognostic indicators include a tumor size equal to or more than 5 cm, presence of metastasis, and necrosis. The mainstay of treatment is wide excision of the tumor. The use of sentinel lymph node biopsy may become an important procedure in detecting occult regional metastasis and guiding the extent of surgery. The beneficial effects of adjuvant chemotherapy and radiotherapy have not been fully evaluated. This article provides a short overview of the current knowledge of clear cell sarcoma of tendons and aponeuroses.

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Imprint cytology of clear cell sarcoma-like tumor of the gastrointestinal tract in the small intestine: A case report

Diagnostic Cytopathology ◽

10.1002/dc.23786 ◽

2017 ◽

Vol 45 (12) ◽

pp. 1137-1141 ◽

Cited By ~ 5

Author(s):

Takashi Kato ◽

Shin Ichihara ◽

Hiroko Gotoda ◽

Shunji Muraoka ◽

Terufumi Kubo ◽

...

Keyword(s):

Small Intestine ◽

Case Report ◽

Gastrointestinal Tract ◽

Clear Cell ◽

Clear Cell Sarcoma ◽

Imprint Cytology ◽

Cell Sarcoma

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Malignant Gastrointestinal Neuroectodermal Tumor: a case report and a review of the literature

American Journal of Clinical Pathology ◽

10.1093/ajcp/aqab191.138 ◽

2021 ◽

Vol 156 (Supplement_1) ◽

pp. S66-S67

Author(s):

B Youssef ◽

D Asberry ◽

R Mohamed

Keyword(s):

Case Report ◽

Gastrointestinal Tract ◽

Clear Cell ◽

Muscularis Propria ◽

Clear Cell Sarcoma ◽

Neuroectodermal Tumor ◽

High Rate ◽

Cell Sarcoma ◽

Molecular Features ◽

Eosinophilic Cytoplasm

Abstract Introduction/Objective Malignant gastrointestinal neuroectodermal tumor (GNET) is a rare soft tissue tumor arising in the wall of the gastrointestinal tract. The GNET was first described as an osteoclast rich tumor of the gastrointestinal tract with features resembling clear cell sarcoma, with only few cases reported in the literature. Methods/Case Report We report a case of a 71-year-old man with a past medical history of hypertension, hyperlipidemia, and benign prostatic hyperplasia presented with complaints of dyspnea, dizziness, fatigue, black stools, and a recent syncopal episode. Laboratory testing revealed anemia (HB 5.4 g/dL). Esophagogastroduodenoscopy demonstrated a submucosal gastric mass. An abdominal CT scan confirmed a 7.8 cm mass along the gastric cardia and fundus. Results (if a Case Study enter NA) Biopsy rendered a gastrointestinal neuroectodermal tumor (GNET). Microscopically, the tumor cells were spindle with eosinophilic cytoplasm and arranged in fascicules. They were positive for CD56, CD99, and Fli-1, synaptophysin, and negative for chromogranin, TTF-1, SMA, desmin, CD34, EMA, pan-cytokeratin, and lymphoid markers. Two months later, further imaging confirmed metastasis to the liver and spleen. GNETs typically arise within the muscularis propria of the gastrointestinal tract and often extend into the submucosa and subserosa. Conclusion The most important differential of GNET is the clear cell sarcoma of the gastrointestinal tract (CCS-GI). Both share similar morphological as well as molecular features and show S100 positivity; however, the lack of melanocytic differentiation in GNET distinguishes it from CCS-GI. Both typically show rearrangements of the EWSR1 gene, with t(12;22) (q13;q12) EWSR1-ATF1 or t(2;22)(q34;q12) EWSR1-CREB1 fusions. Pathologists should be aware of GNET diagnostic entity due to its aggressive behavior and high rate of recurrence and mortality even after complete resection.

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Primary Clear Cell Sarcoma of the Tongue

Archives of Pathology & Laboratory Medicine ◽

10.5858/arpa.2012-0467-cr ◽

2013 ◽

Vol 137 (11) ◽

pp. 1680-1683 ◽

Cited By ~ 10

Author(s):

Stefan Kraft ◽

Cristina R. Antonescu ◽

Andrew E Rosenberg ◽

Daniel G. Deschler ◽

G. Petur Nielsen

Keyword(s):

Soft Tissues ◽

Clear Cell ◽

S100 Protein ◽

Neck Region ◽

Clear Cell Sarcoma ◽

Giant Cells ◽

Cell Sarcoma ◽

Node Metastases ◽

Type Giant

Clear cell sarcoma shares features with melanoma, but frequently shows EWSR1 rearrangements. It is an aggressive tumor typically occurring in the soft tissues of the extremities, with a gastrointestinal variant with less consistent melanocytic differentiation. It is extremely rare in the head and neck region, with no reported cases in the oral cavity. We report a case of an 82-year-old woman with a clear cell sarcoma arising in the tongue, with cervical lymph node metastases. Histologically, the tumor showed some features of gastrointestinal clear cell sarcoma. No osteoclast-type giant cells were present. The tumor cells were positive for S100 protein and negative for other melanocytic markers. Fluorescence in situ hybridization showed rearrangements of EWSR1 and ATF1. This case expands the spectrum of clear cell sarcoma with a gastrointestinal-like variant in a novel site, emphasizing the need to consider it as a differential diagnosis to melanoma in mucosal sites.

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Clear cell sarcoma-like tumor of the gastrointestinal tract presenting as a symptomatic metastasis to the humerus

Human Pathology Case Reports ◽

10.1016/j.ehpc.2017.11.002 ◽

2018 ◽

Vol 11 ◽

pp. 73-75

Author(s):

Howard J. Lee ◽

Emily McCracken ◽

Diana M. Cardona ◽

Dan G. Blazer

Keyword(s):

Gastrointestinal Tract ◽

Clear Cell ◽

Clear Cell Sarcoma ◽

Cell Sarcoma

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Clear cell sarcoma of tendons and aponeuroses, and osteoclast-rich tumour of the gastrointestinal tract with features resembling clear cell sarcoma of soft parts: a review and update

Journal of Clinical Pathology ◽

10.1136/jcp.2008.057471 ◽

2010 ◽

Vol 63 (5) ◽

pp. 416-423 ◽

Cited By ~ 72

Author(s):

Kemal Kosemehmetoglu ◽

Andrew L Folpe

Keyword(s):

Gastrointestinal Tract ◽

Young Adult ◽

Malignant Melanoma ◽

Soft Tissue ◽

Clear Cell ◽

Clear Cell Sarcoma ◽

Soft Tissue Neoplasm ◽

Cell Sarcoma ◽

Melanocytic Differentiation ◽

Gastrointestinal Neoplasm

Clear cell sarcoma (CCS) is a rare, distinctive soft tissue neoplasm, typically occurring in the distal extremities of young adult patients. Although CCS shows melanocytic differentiation, it is now clear that it is clinicopathologically and genetically distinct from conventional malignant melanoma. The ‘osteoclast-rich tumour of the gastrointestinal tract with features resembling clear cell sarcoma of soft parts’ is an extraordinarily rare gastrointestinal neoplasm that shares some features of CCS, but differs from it in other ways. The historical, histopathological, ultrastructural, immunohistochemical and genetic aspects of these two tumours are reviewed in this article.

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