# A Rare Case of Oral-Maxillary NUT (Nuclear Protein in Testis) Carcinoma With Diffuse Osseous Metastasis and Hypercalcemia of Malignancy

**Authors:** Layla Abdul Jabbar, Lucia Soca, Cecilia Clement, Suimin Qiu, Carlos Dostal

PMC · DOI: 10.7759/cureus.82244 · Cureus · 2025-04-14

## TL;DR

This paper reports a rare case of oral-maxillary NUT carcinoma with severe hypercalcemia and widespread bone metastasis, highlighting diagnostic and treatment challenges.

## Contribution

The novelty lies in the first reported case of adult NUT carcinoma with severe hypercalcemia resistant to multimodal treatment.

## Key findings

- The case involved a 48-year-old male with oral-maxillary NUT carcinoma and diffuse osteolytic metastasis.
- The patient exhibited severe hypercalcemia (20.1 mg/dL) unresponsive to aggressive treatment.
- The case underscores the need for improved diagnosis and treatment strategies for NUT carcinoma.

## Abstract

Nuclear protein in testis (NUT) carcinoma is a rare and aggressive cancer arising from genetic rearrangements of the NUTm1 gene. This leads to tumorigenesis, which commonly affects midline structures, including the head, neck, and thorax. It may originate from non-cutaneous epithelial tissues and resemble poorly differentiated squamous cell carcinomas. NUT carcinoma (NC) can typically be consistently identified through immunostaining for the NUT protein. Unfortunately, most cases are detected at an advanced stage, leading to unfavorable outcomes. The rarity of NC, combined with its aggressive behavior, late presentation, and limited understanding of its pathogenesis, presents considerable diagnostic and therapeutic challenges. We present and discuss our case of a 48-year-old male with NC of oral-maxillary origin with diffuse osteolytic metastasis. Uniquely, this is the first report of adult NC with severe hypercalcemia of malignancy (20.1 mg/dL) resistant to an aggressive multimodal treatment approach. We underscore the urgent need for the timely diagnosis of NC and the development of effective interventions for improving the outcome of this devastating malignancy.

## Linked entities

- **Genes:** NUTM1 (NUT midline carcinoma family member 1) [NCBI Gene 256646]
- **Proteins:** NUTM1 (NUT midline carcinoma family member 1)
- **Diseases:** NUT carcinoma (MONDO:0005563), hypercalcemia of malignancy (MONDO:0043455)

## Full-text entities

- **Genes:** PTHLH (parathyroid hormone like hormone) [NCBI Gene 5744] {aka BDE2, HHM, PLP, PTHR, PTHRP}, BRD3 (bromodomain containing 3) [NCBI Gene 8019] {aka FSHRG2, ORFX, RING3L}, BRD4 (bromodomain containing 4) [NCBI Gene 23476] {aka CAP, CDLS6, FSHRG4, HUNK1, HUNKI, MCAP}, NSD3 (nuclear receptor binding SET domain protein 3) [NCBI Gene 54904] {aka KMT3F, KMT3G, WHISTLE, WHSC1L1, pp14328}, DNER (delta/notch like EGF repeat containing) [NCBI Gene 92737] {aka UNQ26, bet}, PTH (parathyroid hormone) [NCBI Gene 5741] {aka FIH1, PTH1}, CD274 (CD274 molecule) [NCBI Gene 29126] {aka ADMIO5, B7-H, B7H1, PD-L1, PDCD1L1, PDCD1LG1}, NUTM1 (NUT midline carcinoma family member 1) [NCBI Gene 256646] {aka C15orf55, FAM22H, NUT}
- **Diseases:** weight loss (MESH:D015431), hypertension (MESH:D006973), primary tumor (MESH:D001932), pain (MESH:D010146), lymphadenopathy (MESH:D008206), facial mass (MESH:C536030), respiratory failure (MESH:D012131), Osseous Metastasis (MESH:D009362), pneumonia (MESH:D011014), extremities (MESH:C563475), palpitations (MESH:D006331), Carcinoma (MESH:D009369), numbness (MESH:D006987), cough (MESH:D003371), Nuclear Protein in Testis (MESH:D013736), fracture (MESH:D050723), proptosis (MESH:D005094), osteolysis (MESH:D010014), Klebsiella bacteremia (MESH:D007710), sepsis (MESH:D018805), facial tumor (MESH:D005153), paraneoplastic syndrome (MESH:D010257), fatigue (MESH:D005221), swelling (MESH:D004487), oncologic (MESH:D000072716), HCM (MESH:D006934), maxillary (MESH:D008439), squamous cell carcinoma (MESH:D002294), lytic lesion (MESH:D009059), tumorigenesis (MESH:D063646), right-arm paralysis (MESH:D010243), hyperreflexia of (MESH:D012021), maxillary tumor (MESH:D008441), neutropenia (MESH:D009503), paresthesia (MESH:D010292), dysphagia (MESH:D003680), renal failure (MESH:D051437), coma (MESH:D003128), compression fractures (MESH:D050815)
- **Chemicals:** zoledronic acid (MESH:D000077211), denosumab (MESH:D000069448), carboplatin (MESH:D016190), H&amp;E (MESH:D006371), Calcium (MESH:D002118), vitamin D (MESH:D014807), paclitaxel (MESH:D017239), bisphosphonates (MESH:D004164)
- **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/PMC12077653/full.md

## References

13 references — full list in the complete paper: https://tomesphere.com/paper/PMC12077653/full.md

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Source: https://tomesphere.com/paper/PMC12077653