Malignant gastrointestinal neuroectodermal tumor with BRAF mutation and a history of malignant melanoma: A case report
| Autor: | Hideaki Sabe, Takashi Yamamoto, Toru Wakamatsu, Satoshi Takenaka, Yoshinori Imura, Shigenori Nagata, Hironari Tamiya, Toshinari Yagi, Katsunari Yamashita |
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| Rok vydání: | 2020 |
| Předmět: |
Cancer Research
SOX10 malignant gastrointestinal neuroectodermal tumor malignant melanoma BRAF 03 medical and health sciences 0302 clinical medicine medicine dabrafenib mesylate trametinib dimethyl sulfoxide Neuroectodermal tumor clear cell sarcoma-like tumor of the gastrointestinal tract Gastrointestinal tract Dabrafenib Mesylate biology business.industry Melanoma Cancer Articles EWSR1-ATF1 medicine.disease Oncology 030220 oncology & carcinogenesis Synaptophysin biology.protein Cancer research 030211 gastroenterology & hepatology Sarcoma business |
| Zdroj: | Molecular and Clinical Oncology |
| ISSN: | 2049-9469 2049-9450 |
| DOI: | 10.3892/mco.2020.2185 |
| Popis: | 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. |
| Databáze: | OpenAIRE |
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