An unusual association of malignant gastrointestinal neuroectodermal tumor (clear cell sarcoma-like) and Ewing sarcoma

Insabato, Luigi; Guadagno, Elia; Natella, Valentina; Somma, Angela Di; Bihl, Michel; Pizzolorusso, Antonio; Mainenti, Pier Paolo; Apice, Gaetano; Tornillo, Luigi

doi:10.1016/j.prp.2015.06.001

Cited by 24 publications

(25 citation statements)

References 17 publications

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“… 21 Luigi narrowed the mechanism to that of Ewing sarcoma because of the expression of FLI-1 and a history of Ewing sarcoma. 22 Gao preferred immunological factors given the macrophages in the abdominal nodules in their cases. 23 Controversies regarding these isolated cases aside, the SWI/SNF-related hypothesis described by Stockman may be more reliable.…”

Section: Discussionmentioning

confidence: 99%

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

Cao

Chen

et al. 2020

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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

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“…This patient was diagnosed and treated of Ewing sarcoma with complete remission 24 years prior to the appearance of GNET. This finding in addition to EWSR1 gene rearrangement raised the issue if Ewing sarcoma is related to GNET [6]. Our case showed strong and diffuse S100 protein reactivity and was negative for CD117, HMB-45 and melan-A.…”

Section: Discussionmentioning

confidence: 62%

“…Most of the cases have been described in the small intestine in addition to the stomach and the colon [1, 3, 5]. The reported cases followed an aggressive clinical behavior with local recurrence and metastatic disease to lymph nodes or hematogenous spread early or at the time of diagnosis [2, 3, 6]. The etiology is unknown.…”

Section: Discussionmentioning

confidence: 99%

“…Two case reports documented a GNET that developed after several years’ history of different other primary tumors (Hepatoblastoma and neuroblastoma) that were treated with chemotherapy and radiotherapy suggesting that radiotherapy may play a role in development of these tumor [8, 13]. A case of GNET was reported as a second malignant neoplasm after history of childhood Ewing sarcoma suggesting that they might be related [6]. …”

Section: Discussionmentioning

confidence: 99%

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

et al. 2017

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BackgroundMalignant gastrointestinal neuroectodermal tumor (GNET) is an extremely rare entity that was first described by Zambrano et al. in 2003 as “Clear cell sarcoma-like tumor of the gastrointestinal tract”. It shares some of the histological features of clear cell sarcoma (CCS) but lacks the immunohistochemical reactivity for melanocytic markers. We report a case of GNET that was initially misdiagnosed as gastrointestinal stromal tumor (GIST). Recognizing this entity is important to avoid misdiagnosis.Case presentationA case of an 18-year-old male presented with a small intestinal tumor. Histologically it was characterized by polygonal cells arranged in pseudoalveolar pattern and situated in the muscularis propria. Scattered osteoclast-like multinucleated giant cells were also noted. The neoplastic cells were positive for S-100 protein and negative for HMB-45, Melan A, smooth muscle actin, desmin and CD117. EWSR1 gene rearrangement was detected by fluorescence in situ hybridization (FISH) analysis. The patient returned with recurrence after 36 months’ management by surgical resection and died one year later.ConclusionsGNET can be mistaken histologically for other non-epithelial gastrointestinal tumors. Awareness of its existence and diagnostic criteria by the pathologist is necessary to avoid misdiagnosis, particularly as GIST, CCS or malignant peripheral nerve sheath tumor (MPNST).

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“…For esophageal GNET, pulmonary metastasis was also reported [15]. Recently, a link between GNET and Ewing sarcoma was postulated [16]. Therefore, GNET is thought to follow malignant behavior.…”

Section: Introductionmentioning

confidence: 99%

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

Prado¹,

Gorcey²,

Szállaśi³

et al. 2018

J Can Sci Res

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With less than 50 reported cases, Gastrointestinal Neuroectodermal Tumor (GNET) is a rare malignant neoplasm.Here we report an unusual case of GNET with indolent clinical behavior. The patient is a 59-year-old Caucasian man whose 2 cm sigmoid colon mass did not increase significantly in size during a 10-year surveillance colonoscopy. This mass was recently resected due to change in bowel habits. H&E sections revealed a polypoid, low-grade spindle cell neoplasm, arising from the submucosa and infiltrating the muscularis propria. Negative CD117 and DOG-1 stains excluded a diagnosis of Gastrointestinal Stromal Tumor (GIST). The tumor cells were positive for vimentin, S-100, synaptophysin, and CD56. Pertinent negative stains included Melan-A, HMB-45, smooth muscle actin, CD34, and cytokeratin. Electronmicroscopy showed no obvious sign of differentiation. A presumptive diagnosis of GNET was made. FISH for rearrangement of the EWSR1 gene was, however, negative. There was no evidence of metastatic disease at the time of surgery. One year after surgical removal of this tumor, the patient is asymptomatic. We propose that a subset of GNET may follow an indolent clinical course. DiscussionGNET is a rare visceral spindle cell neoplasm, characterized by neural differentiation in the absence of melanocytic features [6,7,10]. The differential diagnosis for GNET is broad and ranges from GIST through smooth muscle tumors (e.g., low-grade leiomyosarcoma), perivascular epithelioid cell tumors (so-called PE Comas), monophasic synovial sarcoma and schwannoma to metastatic tumors. In our case, GIST was excluded based on the negative immunohistochemical stains for CD117 and DOG1. Melanocytic differentiation markers (Melan-A and HMB-45) were also negative, thereby ruling out PEComa and melanoma. The negativity of smooth muscle actin and desmin further

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An unusual association of malignant gastrointestinal neuroectodermal tumor (clear cell sarcoma-like) and Ewing sarcoma

Cited by 24 publications

References 17 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>

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

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

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