Clear cell sarcoma of the ileum: report of a case and review of literature

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.

Detection and characterization of EWSR1/ATF1 and EWSR1/CREB1 chimeric transcripts in clear cell sarcoma (melanoma of soft parts)

“…Both EWSR1-ATF1 and EWSR1-CREB1 are known to occur in gastrointestinal clear cell sarcomas. 5,6,8,10 However, the prevalence of chimeric transcript types in gastrointestinal clear cell sarcomas at this site remains uncertain given the rare nature of this tumor.…”

“…[1][2][3] Occasionally, primary clear cell sarcoma can arise in visceral organs including the gastrointestinal tract. 1,[4][5][6][7][8][9][10] It is one of the few sarcomas with a high propensity for lymph node metastases with frequencies of up to 50% reported. [1][2][3] Histologically, clear cell sarcoma is characterized by polygonal to spindled cells arranged in nests and fascicles with clear to eosinophillic granular cytoplasm and prominent nucleoli.…”

“…[1][2][3] Interestingly, clear cell sarcomas of the gastrointestinal origin can be negative for specific melanocytic markers. 5,6,[8][9][10] In addition, 50% of traditional extremity clear cell sarcomas can harbor pigment. 3 This can sometimes make the distinction between clear cell sarcoma and melanoma difficult, especially in situations in which there is no clear in situ component identified or in metastatic melanomas of unknown primary.…”

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

“…S100 protein positivity has been seen in all 38 CCSLGTs where it was performed, whereas the melanocyte-specific markers were negative in all CCSLGTs studied. 1,2,[5][6][7][8][9][10][11][12][13][14] This is in contrast to conventional-type CCSs occurring in the gastrointestinal tract, most of which are positive for S100 protein as well as melanocyte-specific antigens. There is now increasing evidence that many CCSLGTs also express neuroendocrine markers ( Figure 9).…”

“…Another feature distinguishing CCSLGT from CCS and melanomas affecting the gastrointestinal tract is the absence of melanin pigment in all cases reported. 1,2,8,13 The lack of melanin pigmentation does not preclude diagnosis of CCS or melanoma, because amelanotic variants of these can occur. However, 6 of 7 cases of conventional CCS of the gastrointestinal tract were found to contain melanin where there was an active search for pigmentation.…”