Gastrointestinal clear cell sarcoma-like tumour of the ascending colon

Abstract

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. KEYWORDSClear cell sarcoma -Colon -Malignant gastrointestinal neuroectodermal tumour -Gastrointestinal stromal tumour -S100 -Clear cell sarcoma-like tumour of the gastrointestinal tract -Osteoclast rich -EWSR1

Indolent Gastrointestinal Neuroectodermal Tumor (GNET) of the Colon: A New Entity?

“…Fukuda and co-workers described a 74-year-old Japanese man whose GNET recurred 9 month post-surgery [14]. Most recently, a fourth patient (a 22-year-old man) was reported with a 7 cm mass in his proximal transverse colon that revealed EWSR1 gene rearrangement [18]. Our patient is a 59-year old man whose sigmoid colon mass was first noted 10 years ago.…”

Malignant Gastrointestinal Neuroectodermal Tumor in the Right Heart: A Report of an Extremely Rare Case Presenting With a Cardiac Mass

“…It is well-known that GNET is a unique clinicopathological entity harboring EWSR1 – ATF1/CREB1 fusions, and it can arise at any location in the GI tract, with the small intestine (particularly ileum) being the most common ( 4 , 6 ). According to published literatures, only a minority of cases originated from the upper aerodigestive tract (e.g., tongue, parapharyngeal space, and bronchia) ( 1 , 4 , 7 – 9 ), which we regard as location extension in a broad sense.…”