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Article

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

1
Department of Medicine, University of British Columbia, Vancouver, BC V6T 1Z3, Canada
2
Foundation Medicine, Inc., Cambridge, MA 02141, USA
3
Foundation Medicine, Inc., Morrisville, NC 27560, USA
4
Department of Medical Oncology, Saskatoon Cancer Center, Saskatoon, SK S7N 4H4, Canada
5
Department of Medical Oncology, Cancer Care Manitoba, Winnipeg, MB R3E 0V9, Canada
6
Department of Pathology, Duke University, Durham, NC 27710, USA
7
Department of Surgery, University of British Columbia, Vancouver, BC V5Z 1M9, Canada
8
Department of Medical Oncology, Tom Baker Cancer Center, Calgary, AB T2N 4N2, Canada
9
Cumming School of Medicine, University of Calgary, Calgary, AB T2N 4N1, Canada
*
Author to whom correspondence should be addressed.
These authors contributed equally to this work.
Curr. Oncol. 2022, 29(2), 1279-1297; https://doi.org/10.3390/curroncol29020109
Received: 15 December 2021 / Revised: 2 February 2022 / Accepted: 14 February 2022 / Published: 21 February 2022
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. View Full-Text
Keywords: malignant gastrointestinal neuroectodermal tumors (GNET); clear cell sarcoma (CCS); clear cell sarcoma-like tumor of the gastrointestinal tract (CCSTGT); EWSR1-ATF1 fusion; EWSR1-CREB1 fusion; comprehensive genomic profiling (CGP) malignant gastrointestinal neuroectodermal tumors (GNET); clear cell sarcoma (CCS); clear cell sarcoma-like tumor of the gastrointestinal tract (CCSTGT); EWSR1-ATF1 fusion; EWSR1-CREB1 fusion; comprehensive genomic profiling (CGP)
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MDPI and ACS Style

Kandler, T.; Cortez, E.; Clinton, L.; Hemmerich, A.; Ahmed, O.; Wong, R.; Forns, T.; MacNeill, A.J.; Hamilton, T.D.; Khorasani, M.; Feng, X. A Case Series of Metastatic Malignant Gastrointestinal Neuroectodermal Tumors and Comprehensive Genomic Profiling Analysis of 20 Cases. Curr. Oncol. 2022, 29, 1279-1297. https://doi.org/10.3390/curroncol29020109

AMA Style

Kandler T, Cortez E, Clinton L, Hemmerich A, Ahmed O, Wong R, Forns T, MacNeill AJ, Hamilton TD, Khorasani M, Feng X. A Case Series of Metastatic Malignant Gastrointestinal Neuroectodermal Tumors and Comprehensive Genomic Profiling Analysis of 20 Cases. Current Oncology. 2022; 29(2):1279-1297. https://doi.org/10.3390/curroncol29020109

Chicago/Turabian Style

Kandler, Taylor, Eliane Cortez, Lani Clinton, Amanda Hemmerich, Osama Ahmed, Ralph Wong, Taylor Forns, Andrea J. MacNeill, Trevor D. Hamilton, Mohammadali Khorasani, and Xiaolan Feng. 2022. "A Case Series of Metastatic Malignant Gastrointestinal Neuroectodermal Tumors and Comprehensive Genomic Profiling Analysis of 20 Cases" Current Oncology 29, no. 2: 1279-1297. https://doi.org/10.3390/curroncol29020109

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