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Multimodality imaging and treatment of paranasal sinuses nuclear protein in testis carcinoma: A case report
Wen-Peng Huang1, Ge Gao2, Yong-Kang Qiu1
1Department of Nuclear Medicine, Peking University First Hospital, Beijing 100034, China.
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.
Insights
Nuclear protein in testis (NUT) carcinoma is a rare, aggressive cancer often misdiagnosed. Early diagnosis via NUT immunohistochemistry and genetic testing is crucial for staging and monitoring this challenging disease.
Area of Science:
- Oncology
- Pathology
- Genetics
Background:
- Nuclear protein in testis (NUT) carcinoma, formerly NUT midline carcinoma (NMC), is a rare, aggressive epithelial tumor.
- Characterized by a specific gene rearrangement on chromosome 15q14, NMC often presents with non-specific symptoms, leading to underdiagnosis.
- Diagnostic methods include immunohistochemistry, genetic testing (FISH, RT-PCR, NGS), and traditional imaging.
Observation:
- A 58-year-old female presented with eye swelling and pain, later diagnosed with NMC post-surgery and genetic testing.
- Postoperative complications included vision loss, nausea, and vomiting. Recurrence was indicated by MRI and PET/CT scans.
- The patient received radiation, anti-angiogenic drugs, and sonodynamic therapy (SDT), achieving temporary remission but ultimately developing distant metastases.
Findings:
- The case highlights the diagnostic challenges of NMC, emphasizing the need for prompt immunohistochemical staining for NUT.
- Advanced imaging (CT, MRI, PET/CT) is vital for NMC staging, treatment assessment, and monitoring.
- Despite multimodal treatment including novel approaches like SDT, the patient's overall survival was limited to 17 months.
Implications:
- Consider NMC in rapidly progressing sinus tumors with poor treatment response; prioritize NUT immunohistochemistry and genetic testing.
- Integrated imaging modalities are essential for comprehensive NMC management.
- The poor prognosis underscores the urgent need for more effective therapeutic strategies for NUT carcinoma.
