Malignant gastrointestinal neuroectodermal tumor with BRAF mutation and a history of malignant melanoma: A case report

Yagi,Toshinari; Nagata,Shigenori; Yamamoto,Takashi; Wakamatsu,Toru; Imura,Yoshinori; Tamiya,Hironari; Sabe,Hideaki; Yamashita,Katsunari; Takenaka,Satoshi

doi:10.3892/mco.2020.2185

February-2021 Volume 14 Issue 2

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February-2021 Volume 14 Issue 2

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Case Report Open Access

Malignant gastrointestinal neuroectodermal tumor with BRAF mutation and a history of malignant melanoma: A case report

Authors:
- Toshinari Yagi
- Shigenori Nagata
- Takashi Yamamoto
- Toru Wakamatsu
- Yoshinori Imura
- Hironari Tamiya
- Hideaki Sabe
- Katsunari Yamashita
- Satoshi Takenaka
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Affiliations: Department of Outpatient Chemotherapy, Osaka International Cancer Institute, Osaka 541‑8567, Japan, Department of Diagnostic Pathology and Cytology, Osaka International Cancer Institute, Osaka 541‑8567, Japan, Department of Clinical Laboratory, Osaka International Cancer Institute, Osaka 541‑8567, Japan, Department of Orthopedic Surgery, Osaka International Cancer Institute, Osaka 541‑8567, Japan

Copyright: © Yagi et al. This is an open access article distributed under the terms of Creative Commons Attribution License.
Article Number: 23
|
Published online on: December 4, 2020

https://doi.org/10.3892/mco.2020.2185
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Abstract

Malignant gastrointestinal neuroectodermal tumors (GNETs), also called clear‑cell sarcoma‑like tumors of the gastrointestinal tract, are rare and highly aggressive tumors originating in the gastrointestinal tract. These tumors are generally immunohistochemically positive for S‑100 protein (S‑100) and SRY‑related HMG‑box 10 (SOX10), and often contain EWSR1‑ATF1 or EWSR1‑CREB1. The histological features of GNETs overlap with those of clear‑cell sarcoma of the tendons and aponeuroses. However, GNETs immunohistochemically lack melanocyte‑specific markers and often demonstrate positivity for CD56, synaptophysin and neuron‑specific enolase. The present case reports a woman with a history of desmoplastic malignant melanoma exhibiting a BRAF mutation, which later transformed into a GNET of the small intestine with both a BRAF mutation and two subtypes of EWSR1‑ATF1 fusion genes. Tumor cells were revealed to be weakly immunoreactive or negative for S‑100 and SOX10, lacked markers of melanocytic differentiation and were focally positive for CD56. Combination therapy with dabrafenib mesylate and trametinib dimethyl sulfoxide proved to be temporarily effective against this tumor. The present case is relatively unique as, to the best of our knowledge, there is no case of GNET with a history of melanoma. Furthermore, there is no report of GNET exhibiting both a BRAF mutation and an EWSR1‑ATF1 fusion gene. Further accumulation of similar cases is necessary to elucidate the pathological significance of this GNET having a BRAF mutation.

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Journals

International Journal of Molecular Medicine

International Journal of Oncology

Molecular Medicine Reports

Oncology Reports

Experimental and Therapeutic Medicine

Oncology Letters

Biomedical Reports

Molecular and Clinical Oncology

World Academy of Sciences Journal

International Journal of Functional Nutrition

International Journal of Epigenetics

Medicine International

Malignant gastrointestinal neuroectodermal tumor with BRAF mutation and a history of malignant melanoma: A case report

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