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

Abstract

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 melanocytespecific 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.

The spectrum of EWSR1-rearranged neoplasms at a tertiary sarcoma centre; assessing 772 tumour specimens and the value of current ancillary molecular diagnostic modalities

“…Its role in cancer cell progression is still unclear, although it may play a critical role in DNA damage response and cell division (Li et al , 2007; Paronetto, 2013). While initially thought specific for Ewing sarcoma (formerly the Ewing sarcoma/primitive peripheral neuroectodermal tumour (PNET) family of tumours) (Dockhorn Dworniczak et al , 1994), characteristic rearrangements between EWSR1 and partner genes have been documented in both tumours of mesenchymal and non-mesenchymal lineage, including desmoplastic small round cell tumour (DSRCT; Ladanyi and Gerald, 1994; Antonescu et al , 1998), myxoid liposarcoma (MLPS; Panagopoulos et al , 1996; Dal Cin et al , 1997; Hosaka et al , 2002), extraskeletal myxoid chondrosarcoma (EMC; Sciot et al , 1995; Clark et al , 1996), angiomatoid fibrous histiocytoma (AFH; Hallor et al , 2005; Rossi et al , 2007; Thway and Fisher, 2015; Thway et al , 2015b), clear cell sarcoma of soft tissue (CCS; Hisaoka et al , 2008; Wang et al , 2009) and clear cell sarcoma-like tumours of the gastrointestinal tract (CCSLGT; Thway and Fisher, 2012; Wang and Thway, 2015), primary pulmonary myxoid sarcoma (PPMS; Thway et al , 2011), myoepithelial tumours of skin, soft tissue and bone (Antonescu et al , 2010a; Antonescu et al , 2010b; Thway and Fisher, 2014; Thway et al , 2015a), and more rarely in low-grade fibromyxoid sarcoma (LGFMS; Lau et al , 2013) and sclerosing epithelioid fibrosarcoma (SEF; Doyle et al , 2012; Arbajian et al , 2014). EWSR1 rearrangements can be easily detected in the routine setting by fluorescence in situ hybridisation (FISH) with break-apart probes, and corresponding fusion transcripts by reverse transcription–PCR (RT–PCR) studies, usually using commercial probes and primers respectively.…”

Clear cell sarcoma of the esophagus: A rare location

“…It is characterized by highly aggressive clinical behavior with a high risk of recurrence and metastatic disease. The clinical presentation is often associated with intestinal obstruction, abdominal mass on imaging, abdominal pain, or nonspecific symptoms such as anemia, vomiting, anorexia, weight loss, hematemesis, or rectal bleeding . It should be noted that our patient had a medical history of unilateral retinoblastoma treated at the age of seven.…”

Malignant gastrointestinal neuroectodermal tumor: a case report and review of the literature

“…Other authors considered that lack of osteoclast-like multinucleated giant cells argues against being a different entity from CCS [12, 14]. However, the recognition of the increasing number of these cases in the gastrointestinal tract associated with lack of melanocytic differentiation and worse clinical behavior compared to CCS of soft parts supports the notion of being a different entity [22]. A larger number of cases needs to be studied for better histological and molecular classification.…”