BACKGROUND Nuclear protein in testis(NUT) carcinoma is a rare aggressive malignant epithelial cell tumor, previously known as NUT midline carcinoma(NMC), characterized by an acquired rearrangement of the gene encoding...BACKGROUND Nuclear protein in testis(NUT) carcinoma is a rare aggressive malignant epithelial cell tumor, previously known as NUT midline carcinoma(NMC), characterized by an acquired rearrangement of the gene encoding NUT on chromosome 15q14. Due to the lack of characteristic pathological features, it is often underdiagnosed and misdiagnosed. A variety of methods can be used to diagnose NMC, including immunohistochemistry, karyotyping, fluorescence in situ hybridization, reverse transcription-polymerase chain reaction, and next-generation sequencing. So far, there is no standard treatment plan for NMC and the prognosis is poor, related to its rapid progression, easy recurrence, and unsatisfactory treatment outcome.CASE SUMMARY A 58-year-old female came to our hospital with a complaint of eye swelling and pain for 8 d. The diagnosis of NMC was confirmed after postoperative pathology and genetic testing. The patient developed nausea and vomiting, headache, and loss of vision in both eyes to blindness after surgery. Magnetic resonance imaging(MRI) and positron emission tomography/computed tomography(PET/CT) performed after 1.5 mo postoperatively suggested tumor recurrence. The patient obtained remission after radiation therapy to some extent and after initial treatment with anti-angiogenic drugs and sonodynamic therapy(SDT), but cannot achieve long-term stability and eventually developed distant metastases, with an overall survival of only 17 mo.CONCLUSION For patients with rapidly progressing sinus tumors and poor response to initial treatment, the possibility of NMC should be considered and immunohistochemical staining with anti-NUT should be performed as soon as possible, combined with genetic testing if necessary. CT, MRI, and PET/CT imaging are essential for the staging, management, treatment response assessment and monitoring of NMC. This case is the first attempt to apply heat therapy and SDT in the treatment of NMC, unfortunately, the prognosis remained poor.展开更多
基金Supported by The Beijing Science Foundation for Distinguished Young Scholars,No.JQ21025.
文摘BACKGROUND Nuclear protein in testis(NUT) carcinoma is a rare aggressive malignant epithelial cell tumor, previously known as NUT midline carcinoma(NMC), characterized by an acquired rearrangement of the gene encoding NUT on chromosome 15q14. Due to the lack of characteristic pathological features, it is often underdiagnosed and misdiagnosed. A variety of methods can be used to diagnose NMC, including immunohistochemistry, karyotyping, fluorescence in situ hybridization, reverse transcription-polymerase chain reaction, and next-generation sequencing. So far, there is no standard treatment plan for NMC and the prognosis is poor, related to its rapid progression, easy recurrence, and unsatisfactory treatment outcome.CASE SUMMARY A 58-year-old female came to our hospital with a complaint of eye swelling and pain for 8 d. The diagnosis of NMC was confirmed after postoperative pathology and genetic testing. The patient developed nausea and vomiting, headache, and loss of vision in both eyes to blindness after surgery. Magnetic resonance imaging(MRI) and positron emission tomography/computed tomography(PET/CT) performed after 1.5 mo postoperatively suggested tumor recurrence. The patient obtained remission after radiation therapy to some extent and after initial treatment with anti-angiogenic drugs and sonodynamic therapy(SDT), but cannot achieve long-term stability and eventually developed distant metastases, with an overall survival of only 17 mo.CONCLUSION For patients with rapidly progressing sinus tumors and poor response to initial treatment, the possibility of NMC should be considered and immunohistochemical staining with anti-NUT should be performed as soon as possible, combined with genetic testing if necessary. CT, MRI, and PET/CT imaging are essential for the staging, management, treatment response assessment and monitoring of NMC. This case is the first attempt to apply heat therapy and SDT in the treatment of NMC, unfortunately, the prognosis remained poor.
