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Malignant gastrointestinal neuroectodermal tumor presenting with small intestinal obstruction: A case report.

ABSTRACT: Malignant gastrointestinal neuroectodermal tumors (GNETs) are rare malignant mesenchymal neoplasms. To our knowledge, only 99 cases have been reported worldwide. The tumor has an aggressive malignancy, with a rapid progression. The histological features of GNET overlap with those of clear cell sarcoma, which contain Ewing sarcoma breakpoint region 1 mutation. GNETs lack melanocyte-specific markers, while clear cell sarcoma exhibits melanocytic differentiation. Various symptoms have been reported previously, and the most reported lesion is in the small bowel. The patient was a 69-year-old man who presented with abdominal pain and vomiting. Computed tomography revealed a nodule in the small bowel, which induced small intestinal obstruction. Enteroscopic images revealed a submucosal tumor. Surgery was performed, and the patient was diagnosed with GNET. Only two patients whose primary lesions were in the small intestine, including the patient in this report, have undergone enteroscopy before surgery. This is a rare case of GNET in which a patient underwent enteroscopy before surgical treatment.

SUBMITTER: Sasaki M

PROVIDER: S-EPMC9302053 | biostudies-literature | 2022 Apr

REPOSITORIES: biostudies-literature

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Malignant gastrointestinal neuroectodermal tumor presenting with small intestinal obstruction: A case report.

Sasaki Makiko M Tanaka Mamoru M Asukai Koki K Koguchi Hiroki H Inoue Yusuke Y Moriyama Mizuki M Tsukahara Tetsuo T Kawahara Takeo T Hayashi Eiji E Hattori Yukinori Y Hasegawa Izumi I Kataoka Hiromi H

DEN open 20220410 1

Malignant gastrointestinal neuroectodermal tumors (GNETs) are rare malignant mesenchymal neoplasms. To our knowledge, only 99 cases have been reported worldwide. The tumor has an aggressive malignancy, with a rapid progression. The histological features of GNET overlap with those of clear cell sarcoma, which contain Ewing sarcoma breakpoint region 1 mutation. GNETs lack melanocyte-specific markers, while clear cell sarcoma exhibits melanocytic differentiation. Various symptoms have been reported ...[more]

PMID: 35873522

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Project description:RationaleMalignant melanoma (MM) is notorious for its remarkable morphological variation and aberrant histopathological patterns. In addition, Malignant Periopheral Nerve Sheath Tumor (MPNST) is an uncommon but aggressive soft tissue sarcoma. Because of the common embryological origin of melanocytes and Schwann cells in the neural crest, discriminating between a particular type of MM and MPNST can be difficult, particularly when they are amelanotic. Our goal is to increase awareness among clinicians of the rare variations of MM and the importance of medical history in improving the accuracy of the final clinical diagnosis.Patient concernsA 68-year-old man was admitted to the hospital due to pain in his right ankle, which had persisted for 8 months, along with swelling for 4 months. Medical history revealed delayed healing of right plantar for 5 years after a traumatic injury.DiagnosesThe ankle mass was initially diagnosed as MPNST through biopsy. After reviewing the patient's medical history and receiving the final pathological report following amputation, we have revised the diagnosis to metastatic amelanotic desmoplastic melanoma in the ankle part and lentigo maligna melanoma in the plantar part. This is due to both lesions displaying positive markers or mutated genes in immunohistology and Gene Mutation Detection, indicating homology between the 2 tumors.InterventionsDue to the malignant characteristics of the tumor and the patient's wishes, amputation of the right lower leg was carried out.OutcomesSubsequently, the patient was treated with interferon-γ and immunosuppressant PD-1 inhibitor, and survived for 1 year after amputation.LessonsClinical data, immunohistochemisty biomarkers and genes detection results can serve as valuable evidence for pathologists and clinicians in identifying the disease process. Collaborative efforts between clinicians and scientists are crucial in order to identify specific markers that can effectively differentiate between the 2 tumors, thereby enhancing the conclusiveness of the diagnosis.

Dataset Information

Malignant gastrointestinal neuroectodermal tumor presenting with small intestinal obstruction: A case report.

Publications

Malignant gastrointestinal neuroectodermal tumor presenting with small intestinal obstruction: A case report.

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