# Sinonasal NUT-Midline Carcinoma – A Multimodality Approach to Diagnosis, Staging and Post-Surgical Restaging

**Authors:** Faiq Shaikh, Nitin Pagedar, Omer Awan, Parren McNeely

PMC · DOI: 10.7759/cureus.288 · Cureus · 2015-07-26

## TL;DR

This paper presents a rare case of sinonasal NUT midline carcinoma diagnosed and staged using advanced imaging and molecular techniques.

## Contribution

The paper highlights a multimodal diagnostic approach for a rare and aggressive cancer with potential for misdiagnosis.

## Key findings

- NUT midline carcinoma was accurately diagnosed using CT and confirmed with molecular analysis.
- PET/CT and MRI were effective for staging and post-surgical restaging of the tumor.
- The case underscores the importance of integrating imaging and molecular diagnostics for accurate identification.

## Abstract

Nuclear protein testis (NUT) midline carcinoma is a rare malignancy involving predominantly the midline structures of the body. It is characterized by its genotypic feature of BRD4-NUT translocation, which is in contrast with other malignant processes that are usually categorized based on their histologic/phenotypic features. As these tumors may vary in their histologic presentation, they can be misdiagnosed as poorly differentiated carcinomas. Moreover, they are often very aggressive and associated with high mortality. Therefore, it is extremely important to diagnose them early using computed tomography (CT) and magnetic resonance imaging (MRI) and perform staging and restaging using 18-fluorodeoxyglucose positron emission tomography/computed tomography (18-FDG PET/CT), in addition to accurately identifying them at a microscopic and molecular level. We report a unique case of a sinonasal NUT midline carcinoma that was diagnosed with CT, staged with PET/CT, and restaged using PET/CT and MRI.

## Linked entities

- **Genes:** BRD4 (bromodomain containing 4) [NCBI Gene 23476], NUTM1 (NUT midline carcinoma family member 1) [NCBI Gene 256646]
- **Proteins:** NUTM1 (NUT midline carcinoma family member 1)
- **Diseases:** NUT midline carcinoma (MONDO:0005563)

## Full-text entities

- **Genes:** BRD4 (bromodomain containing 4) [NCBI Gene 23476] {aka CAP, CDLS6, FSHRG4, HUNK1, HUNKI, MCAP}, NUTM1 (NUT midline carcinoma family member 1) [NCBI Gene 256646] {aka C15orf55, FAM22H, NUT}, NSD3 (nuclear receptor binding SET domain protein 3) [NCBI Gene 54904] {aka KMT3F, KMT3G, WHISTLE, WHSC1L1, pp14328}, CDKN2A (cyclin dependent kinase inhibitor 2A) [NCBI Gene 1029] {aka ARF, CAI2, CDK4I, CDKN2, CMM2, INK4}
- **Diseases:** disease (MESH:D004194), visceral or osseous metastatic disease (MESH:D010001), adenoid tonsillar lesion (MESH:D014067), submandibular swelling (MESH:D013364), respiratory failure (MESH:D012131), eye (MESH:D005134), pain under the (MESH:D010146), sinonasal tumors (MESH:C537344), midline carcinoma (MESH:C538667), metastasis (MESH:D009362), mediastinal malignancies (MESH:D008480), fatigue (MESH:D005221), marrow (MESH:D001855), pulmonary nodules (MESH:D055613), lymphoma (MESH:D008223), sarcomas (MESH:D012509), NMC (MESH:D013736), headaches (MESH:D006261), undifferentiated carcinomas (MESH:D002277), NMCs of the lung (MESH:D008171), hilar/mediastinal lymphadenopathy (MESH:D008477), metastatic neuroendocrine tumors (MESH:D018358), undifferentiated neoplasms of the UADT (MESH:D004067), adenopathy (MESH:D000072281), death (MESH:D003643), breast cancer (MESH:D001943), intraorbital tumor (MESH:D008579), poorly differentiated carcinomas (MESH:D020522), metastatic disease (MESH:D000092182), squamous cell carcinoma (MESH:D002294), cancers (MESH:D009369), perineural (MESH:D052958), lymph node necrosis (MESH:D000072717), germ cell tumor (MESH:D009373), pancreas and lung cancers (MESH:D008175), hyperostosis (MESH:D015576), necrosis (MESH:D009336)
- **Chemicals:** docetaxel (MESH:D000077143), 18-FDG (MESH:D019788), doxorubicin, (MESH:D004317), cisplatin (MESH:D002945), etoposide (MESH:D005047), Gadolinium (MESH:D005682), 18-fluorodeoxyglucose (-)
- **Species:** Homo sapiens (human, species) [taxon 9606]

## Full text

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## Figures

4 figures with captions in the complete paper: https://tomesphere.com/paper/PMC4523209/full.md

## References

23 references — full list in the complete paper: https://tomesphere.com/paper/PMC4523209/full.md

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Source: https://tomesphere.com/paper/PMC4523209