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 Table of Contents  
CASE REPORT
Year : 2020  |  Volume : 6  |  Issue : 1  |  Page : 87-89

Clear cell sarcoma of rectum with liver and lung metastasis in a young female: A rare case report with review of literature


Assistant professor, State Cancer Institute, IGIMS, India

Date of Submission09-Jul-2019
Date of Acceptance13-Jan-2020
Date of Web Publication16-Nov-2020

Correspondence Address:
Kunal Kishor
Dept. of Radiation oncology, State Cancer Institute, IGIMS, Patna
India
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Source of Support: None, Conflict of Interest: None


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  Abstract 


INTRODUCTION: Clear cell sarcoma like tumor of the gastrointestinal tract (CCS-GI) is an extremely rare type of soft tissue sarcoma with aggressive behavior, which exhibits morphological, immunohistochemical and ultrastructural similarity with malignant melanoma. It is rarely localized in the intestine and the natural history of this tumor is not yet clear[1]. To date, less than 42 cases of CCS-GI have been described in the literature, as far as the best of my knowledge.
CASE PRESENTATION: A 20 year nulliparous female presented with something coming out during straining for defecation and bleeding per rectum since 3 months. Patient was also complaining of constipation off and on. The patient underwent contrast enhanced MRI Pelvis, which revealed mass in anorectal region, 6.5x 3.4cm in size at left pararectal wall which was touching muscularis externa at 3 O’clock. There was mid perirectal mesorectal lymph nodes, 2-4 cm in size. Biopsy from anorectal mass was sent for HPE, which was reported as malignant melanoma. In morphology, tumour cells were relatively large, ovoid to epithelioid with pale eosinophilic to clear cytoplasm. Nuclei were centrally located. Necrosis was present. Immunohistochemistry was positive for S100 and Melan-A. The tumor was immunonegative for CK, HMB-45, CD1a,CD68, CD21 and CD23. Ki-67 was70%. Final impression was Clear cell sarcoma like tumor of the gastrointestinal tract (CCS-GI).
CONCLUSION: Herein we present a case of CCS-GI, with discussion on its clinical and pathological features and review of the literature on the subject.

Keywords: Clear cell sarcoma of rectum, liver and lung metastasis, S100


How to cite this article:
Kishor K, Sinha DK. Clear cell sarcoma of rectum with liver and lung metastasis in a young female: A rare case report with review of literature. J Indira Gandhi Inst Med Sci 2020;6:87-9

How to cite this URL:
Kishor K, Sinha DK. Clear cell sarcoma of rectum with liver and lung metastasis in a young female: A rare case report with review of literature. J Indira Gandhi Inst Med Sci [serial online] 2020 [cited 2020 Nov 29];6:87-9. Available from: http://www.jigims.co.in/text.asp?2020/6/1/87/300749




  Introduction Top


Clear cell sarcoma like tumor of the gastrointestinal tract (CCS-GI); osteoclast-rich tumor of the gastrointestinal tract with features resembling clear cell sarcoma [CCS] of soft parts, is a rare malignant neoplasm, that arises within the wall of the small bowel, stomach, or large bowel, and predominantly occurs in young adults[2]. Clear cell sarcoma having melanocyte differentiation, was first described by Enzinger in 1965. It typically involves the tendons and aponeurosis of young adults. It shares the same immunohistochemical profile and ultrastructural features as of malignant melanoma[3]. The hallmark of CCS-GI is the presence of EWSR1-CREB1 or EWSR1-ATF1 gene fusions, detectable with reverse transcription-polymerase chain reaction (RT-PCR)[4].

Clear cell sarcoma like tumor of the gastrointestinal tract is difficult to distinguish from conventional CCS (of soft tissue or of tendons and aponeuroses) because their morphologic features overlap, they both express S100 protein, and they both can harbor identical genetic abnormalities, but in contrast to CCS, CCS-GI lack immunohistochemical or ultrastructural evidence of melanocyte differentiation[2].


  Clinical History Top


A 20 years nulliparous female presented with something coming out during straining for defecation and bleeding per rectum since 3 months. Patient was also complaining of constipation off and on. The patient underwent contrast enhanced MRI Pelvis, which revealed mass in ano-rectal region, 6.5 x 3.4 cm in size at left pararectal wall which was touching muscularis externa at 3 O’clock. There was mid perirectal mesorectal lymph nodes, 2-4 cm in size. CECT Abdomen revealed a 7x6 cm mass lesion involving rectum and anal canal with predominant endoluminal component and approx 2.1 cm size left lateral wall exophytic component. Multiple small nodules noted involving mesorectal fat and bilateral internal iliac region. Liver showed multiple thick walled cystic lesion in both lobes with central hypodense component and heterogenous enhancing thick wall (2.0 cm). Size of larger lesion was approx 1.7 cm in right lobe of liver suggestive of metastatic lesion. Left basal segment of right lung showed few metastatic lesions.


  Material and Methods Top


Cell blocks were prepared from tissue biopsy from anorectal mass, fixed in neutral, phosphate-buffered, 10% formalin, and routinely processed with tissue sections embedded in paraffin, and stained with hematoxylin and eosin. Immunohistochemical studies were performed on representative sections of the tumor. Pre diluted antibodies were used for S100 protein, CK, CD1a, CD68, CD21, CD23, HMB45, melan-A and Ki-67 from cell block specimen.


  Results Top


Tissue biopsy from anorectal mass was sent for HPE, which was reported as Malignant melanoma. On block review, microscopically, section showed multiple pieces of tumor tissue composed of round to polypoidal to spindle cells arranged in a broad trabeculae and solid masses separated by fibrocollagenous tissue. The cells showed moderate to marked nuclear pleomorphism, enlarged round to spindle shaped hyperchromatic nuclei with prominent nucleoli. The cytoplasm was abundnant and eosinophilic. Mitosis were seen. Focal area of necrosis also noted. Impression was poorly differentiated malignancy.

On further review with Immunohistochemistry (IHC), morphologically, section showed a tumor composed of nests of tumor cells separated by fibrous septae. Tumor cells were relatively large, ovoid to epitheloid with pale eosinophilic to clear cytoplasm. Nuclei were centrally located, vesicular with mostly inconspicuous and occasional prominent nucleoli. Necrosis was present. On IHC, the tumor was immunoreactive for S100 and Melan-A and immunonegative for CK, HMB-45, CD1a, CD68, CD21 and CD23. Ki-67 was 70%. Final impression was Clear cell sarcoma like tumour of the gastrointestinal tract (CCS-GI).
Figure 1: S100 Protein immunoreactivity

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Figure 2: Melan-A immunoreactivity

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With these findings, metastatic CCS of the gastrointestinal tract was diagnosed. She was advised for chemotherapy, Temozolomide (200 mg) PO D1-5, and Capecitabine (2000mg) PO D1-14 q 21days. Haemostatic Radiation therapy (20Gy/5#/5days) was given for bleeding per rectum.


  Discussion Top


Clear cell sarcoma is a rare tumor, commonly affecting young adults in the third and fourth decades. The principal sites of involvement are deep soft tissues of the lower extremities close to tendons and aponeuroses[3]. Until now, 42 cases of CCS of the digestive tract have been reported.

There is no sex predilection and the median age is 37 years (range = 10-85 years). The most common site appears to be small bowel, in particular, the ileum, with other documented sites including the stomach, colon, and peritoneum. Most patients present with abdominal pain, intestinal obstruction, or with an incidental finding of an abdominal mass on imaging. Some patients have nonspecific symptoms of anorexia, weight loss, anemia, lethargy, or pyrexia, and occasionally present with vomiting or hematemesis. Median tumor size is 4.25 cm (range = 1.513.5 cm). The majority of the tumors are described as ulcerated masses involving all the layers of the intestinal or gastric wall. About half of the cases have regional lymph node metastasis at the time of diagnosis. Besides lymph nodes, liver seems to be the most common metastatic site. The clinical behavior of gastrointestinal tract CCS appears more aggressive than its soft tissue counterpart[2]. A recent study by Antonescu et al showed that the alternative translocation t (2,22) (q32; q12) resulting in a EWSCREB1 gene fusion occurs preferentially in a group of intestinal CCSs lacking melanocytic differentiation. At the immunophenotypic level, CCS-GI and CCS share expression of S100 protein, but most, and all with osteoclast-like multinucleated giant cells, differ very significantly in terms of expression of specific melanocytic markers[5]. Perhaps the most compelling evidence linking CCS-GI and CCS is the presence of EWS-ATF1 and EWS-CREB1 fusions in both of the tumors[4].

In conclusion, CCS is a rare mesenchymal tumor of the gastrointestinal tract with distinctive morphological features and melanocytic differentiation and characteristic translocation that cause EWSR1-ATF1 fusion gene. There is also a distinct subtype of CCS arising in the gastrointestinal t ra c t t h a t s h a re s s o m e m o r p h o l o g i c a l , immunohistochemical, and genetic features with conventional CCS but differs from it by the lack of melanocytic differentiation and the presence of osteoclast- like giant cells6.

Conflict of Interest

None declared

Financial Disclosure

None declared



 
  References Top

1.
Deenik W, Mooi WJ, Rutgers EJ, Peterse JL, Hart AA, Kroon BB. Clear cell sarcoma (malignant melanoma) of soft parts: a clinicopathologic study of 30 cases. Cancer. 1999; 86:969-975.  Back to cited text no. 1
    
2.
Friedrichs N, Testì MA, Moiraghi L, et al. Clear cell sarcoma-like tumor with osteoclast-like giant cells in the small bowel: further evidence for a new tumor entìty. Int J Surg Pathol. 2005; 13:313-318.  Back to cited text no. 2
    
3.
Kosemehmetoglu K, Folpe AL. 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. J Clin Pathol. 2010; 63:416-423.  Back to cited text no. 3
    
4.
Granville L, Hicks J, Popek E, Dishop M, Tatevian N, LopezTerrada D. Visceral clear cell sarcoma of soft tìssue with confirmatìon by EWS- AT F1 fus ion d et ec tìon. UltrastructPathol. 2006; 30:111-118.  Back to cited text no. 4
    
5.
Antonescu CR. Clear cell sarcoma of soft tìssue. In: Fletcher CDM, Bridge JA, Hogencloorn PCW, Mertens F, eds. WHO Classification of Tumours of Soft Tissue and Bone. 4th ed. Lyon, France: IARC Press; 2013:221-222  Back to cited text no. 5
    
6.
Rosai J. Clear cell sarcoma and osteoclast-rich clear cell sarcoma-like tumor of the gastrointestìnal tract: one tumor type or two? Melanoma or sarcoma? [editorial]. Int J Surg Pathol. 2005; 13:309311.  Back to cited text no. 6
    


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