Clear Cell Sarcoma-like Tumor of the Gastrointestinal Tract: Clinical Outcome and Pathologic Features of a Molecularly Characterized Tertiary Center Case Series

Libertini, Michela; Thway, Khin; Noujaim, Jonathan; Puls, Florian; Messiou, Christina; Fisher, Cyril; Jones, Robin L.

doi:10.21873/anticanres.12374

Cited by 15 publications

(16 citation statements)

References 21 publications

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“… 18 , 19 Radiotherapy after lung and liver metastasis was also performed in some cases. 16 , 20 Two scholars mentioned the possible influence of focal radiotherapy on the neoplastic origin, but no experimental evidence was provided to confirm this influence. 21 Drug resistance and the lack of specific targeted treatments are the main problems of clinical treatment.…”

Section: Discussionmentioning

confidence: 99%

<p>Malignant Gastrointestinal Neuroectodermal Tumors: Clinicopathological and Prognostic Features of 96 Patients</p>

Cao

Chen

et al. 2020

OTT

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Gastrointestinal neuroectodermal tumors (GNETs) are uncommon malignant tumors derived from ectodermal primitive neural cells. Patients and Methods: We retrospectively analyzed 2 GNET cases at our hospital and the remaining 94 cases in the literature to determine clinicopathological prognostic factors. Results: The patients had a mean age of 36 years and a median tumor size of 4.5 cm. A total of 67.0% of the tumors were located in the small intestine, and 76.4% of the patients presented recurrence or metastasis. There was a significant difference in sex and presence of osteoclast-like cells (P<0.01). Microscopically, most cells were round or short spindle-like in shape, with weak eosinophilic or clear cytoplasm. Neoplastic cells were always arranged in solid sheets, nests, and pseudoalveoli. Immunohistochemistry showed strong, diffuse S100 and SOX10 expression, with a complete absence of HMB45 and Melan-A expression. A total of 72.9% of the cases revealed genetic EWSR1 recombination, including our 2 cases. The median time to death and first metastasis was 61 months and 12 months, respectively. K-M analysis showed a great difference in survival according to lymph node invasion or distant metastasis (M+N), independent lymph node metastasis (N), lower histological grades (G2), and aggressive chemoradiotherapy (P=0.026, P=0.027, P=0.039 and P=0.037). However, independent T, independent M, and postoperative routine adjuvant therapy showed no statistical influence on overall survival or disease-free survival. Conclusion: GNET is a new entity distinct in its clinical, morphological, immunochemical, and genetic features. Radical excision, close follow-up and adjuvant therapy may be effective for prolonged survival.

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Section: Discussionmentioning

confidence: 99%

<p>Malignant Gastrointestinal Neuroectodermal Tumors: Clinicopathological and Prognostic Features of 96 Patients</p>

Cao

Chen

et al. 2020

OTT

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“…Briefly, metastatic GNET has generally variable response to standard sarcoma-based systemic chemotherapy regimens. Although most cases reported poor chemotherapy sensitivity [ 1 , 13 , 16 , 24 , 33 , 34 , 41 , 42 , 43 ], which is in keeping with the morphologically similar entity CCS [ 52 ], a few cases reported partial response (PR) or stable disease (SD) [ 1 , 8 , 46 , 50 ]. Interestingly, gastrointestinal cancer-based chemotherapy such as oxaliplatin, irinotecan and paclitaxel were also explored in one patient who achieved a short-lived clinical benefit [ 1 ].…”

Section: Literature Review and Discussionmentioning

confidence: 74%

“…She remains disease free at the time that the manuscript was written, however follow-up time is unknown [ 32 ]. In the setting of distant metastasis, especially in the liver, metastectomy, sometimes in conjunction with chemotherapy, was performed in a number of reported cases which may contribute to prolonged survival in these cases [ 18 , 29 , 33 , 34 ]. To our knowledge, there is no literature to inform the role of cytoreductive surgery and possibly intraperitoneal chemotherapy (CRS/HIPEC) for GNET with peritoneal metastases.…”

Section: Literature Review and Discussionmentioning

confidence: 99%

A Case Series of Metastatic Malignant Gastrointestinal Neuroectodermal Tumors and Comprehensive Genomic Profiling Analysis of 20 Cases

Cortez²,

Clinton³

et al. 2022

Current Oncology

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Malignant gastrointestinal neuroectodermal tumor (GNET) is an ultra-rare soft tissue sarcoma, therefore often misdiagnosed and has no available standard treatment. Here, we report 3 cases of metastatic GNET with variable clinical courses. Our small case series as well as extensive literature review, further support that GNET is a spectrum of diseases with variable inherent biology and prognosis. Surgical management in the setting of recurrent/metastatic disease may be appropriate for GNET with indolent nature. Response to systemic treatments including chemotherapy and targeted treatments is variable, likely related to heterogenous biology as well. Furthermore, we retrospectively identified 20 additional GNET cases from Foundation Medicine’s genomic database and expanded on their clinicopathological and genomic features. Comprehensive genomic profiling (CGP) with DNA and RNA sequencing of this cohort, in the course of clinical care, demonstrated recurrent EWSR1 chromosomal rearrangements and a sparsity of additional recurrent or driver genomic alterations. All cases had low tumor mutational burden (TMB) and were microsatellite stable.

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“…Gastrointestinal neuroectodermal tumour (GNET), also referred to as clear cell sarcoma-like tumour of the gastrointestinal tract, is a rare malignant entity which generally arises within the gastrointestinal tract of young adults 1–4. The tumour is characterised by an EWSR1 rearrangement, most often an EWSR1-ATF1 or EWSR1-CREB1 fusion.…”

Section: Introductionmentioning

confidence: 99%

Malignant gastrointestinal neuroectodermal tumour arising in the extrahepatic bile ducts; a rare neoplasm in an unusual anatomic location

et al. 2022

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Malignant gastrointestinal neuroectodermal tumour (GNET) is a rare, aggressive neoplasm with fewer than 100 cases reported in the literature. Most cases arise in the tubular gastrointestinal tract. We reported a unique case of GNET arising in the extrahepatic bile ducts and reviewed the literature of GNETs. The patient is a female in her mid-30s who presented with painless jaundice and diarrhoea several months after cholecystectomy for biliary dyskinesia. Workup revealed a tumour arising from the peripheral 4B bile ducts involving the left hepatic duct and bifurcation. Histologic examination of the lesion showed a malignant spindled and epithelioid neoplasm which strongly expressed S100 and SOX-10. Neoplastic cells were negative for various cytokeratins and melanoma markers. FISH testing using EWSR1 break-apart probes showed rearrangement of the EWSR1 gene region. The immunohistochemical and molecular findings are consistent with a diagnosis of GNET arising in the extrahepatic bile ducts.

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Clear Cell Sarcoma-like Tumor of the Gastrointestinal Tract: Clinical Outcome and Pathologic Features of a Molecularly Characterized Tertiary Center Case Series

Cited by 15 publications

References 21 publications

<p>Malignant Gastrointestinal Neuroectodermal Tumors: Clinicopathological and Prognostic Features of 96 Patients</p>

<p>Malignant Gastrointestinal Neuroectodermal Tumors: Clinicopathological and Prognostic Features of 96 Patients</p>

A Case Series of Metastatic Malignant Gastrointestinal Neuroectodermal Tumors and Comprehensive Genomic Profiling Analysis of 20 Cases

Malignant gastrointestinal neuroectodermal tumour arising in the extrahepatic bile ducts; a rare neoplasm in an unusual anatomic location

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