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<p>Endometrial cancer is generally associated with a favorable prognosis when detected at an early stage and treated appropriately, especially in young women receiving fertility-sparing therapy. However, rare cases may exhibit unexpected aggressive progression driven by novel genetic alterations.A 38-year-old woman was diagnosed with stage IA endometrial endometrioid carcinoma grade 1, based on pathologic examination by endometrial curettage, magnetic resonance imaging, and computed tomography scans. The tumour progressed systemically during fertility-sparing treatment and she died on day 112. Pathologic examination of the liver metastasis revealed that the tumour was morphologically different from the endometrial tumour and was oestrogen receptor-negative, chromogranin A-positive, and synaptophysin-positive on immunohistochemistry, leading to the diagnosis of neuroendocrine carcinoma. Gene panel testing identified <i>TMEM178B-BRAF</i> fusion and subclonal <i>PIK3CA</i> mutations in the liver metastasis, in addition to <i>ARID1A</i> and <i>CTNNB1</i> mutations that were shared with the endometrial tumour. This is the first report of an endometrioid carcinoma transforming into a high-grade neuroendocrine tumour associated with <i>TMEM178B-BRAF</i> fusion.</p>

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A case of endometrioid carcinoma of the endometrium that progressed to lethal neuroendocrine carcinoma as a result of TMEM178B-BRAF fusion

  • 期刊论文

  • 发表日期：

    2025年11月8日

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  • Yoko Kashima,
  • Hisamitu Takaya,
  • Chiho Miyagawa,
  • Tomoyuki Otani,
  • Kazuko Sakai,
  • Kazuto Nishio,
  • Noriomi Matsumura

摘要

Endometrial cancer is generally associated with a favorable prognosis when detected at an early stage and treated appropriately, especially in young women receiving fertility-sparing therapy. However, rare cases may exhibit unexpected aggressive progression driven by novel genetic alterations.A 38-year-old woman was diagnosed with stage IA endometrial endometrioid carcinoma grade 1, based on pathologic examination by endometrial curettage, magnetic resonance imaging, and computed tomography scans. The tumour progressed systemically during fertility-sparing treatment and she died on day 112. Pathologic examination of the liver metastasis revealed that the tumour was morphologically different from the endometrial tumour and was oestrogen receptor-negative, chromogranin A-positive, and synaptophysin-positive on immunohistochemistry, leading to the diagnosis of neuroendocrine carcinoma. Gene panel testing identified TMEM178B-BRAF fusion and subclonal PIK3CA mutations in the liver metastasis, in addition to ARID1A and CTNNB1 mutations that were shared with the endometrial tumour. This is the first report of an endometrioid carcinoma transforming into a high-grade neuroendocrine tumour associated with TMEM178B-BRAF fusion.