# Report of an Extremely Rare Case of BRCA-Positive Head and Neck Cancer: A New Disease on the Horizon?

**Authors:** Sadanand M Karandikar, Himanshi Joon, Shailesh Puntambekar

PMC · DOI: 10.7759/cureus.78175 · Cureus · 2025-01-29

## TL;DR

This paper reports a rare case of head and neck cancer linked to a BRCA mutation, highlighting a new potential disease pattern.

## Contribution

The paper presents the first reported case of BRCA-positive head and neck cancer in this region.

## Key findings

- A BRCA mutation was identified in a case of metastatic squamous cell carcinoma to the neck nodes.
- The patient responded well to platinum-based chemotherapy and PARP inhibitors.
- This case suggests BRCA mutations may play a role in head and neck cancers beyond tobacco-related causes.

## Abstract

Cancer of unknown primary (CUP) with metastatic squamous cell carcinoma (SCC) to the neck nodes is rare and represents <5% of all head and neck malignancies. The prognosis is poor; hence, there is a need for early comprehensive diagnostic evaluation and management. A BRCA mutation is rarely seen in patients with head and neck squamous cell carcinoma (HNSCC) with an incidence of only 5-10%. We hereby present a rare case report of CUP with metastatic neck nodes (SCC), unveiling a BRCA mutation on liquid biopsy. The patient responded very well with platinum-based cytotoxic chemotherapy followed by maintenance poly adenosine diphosphate ribose polymerase inhibitors (PARPi). This is a first-of-its-kind case in the head and neck region, especially in this part of the world, where tobacco-related head and neck cancer catches all the attention over human papillomavirus (HPV) positivity and other risk factors.

## Linked entities

- **Genes:** Brca2 (BRCA2, DNA repair associated) [NCBI Gene 37916]
- **Chemicals:** platinum (PubChem CID 23939), PARPi (PubChem CID 130443213)
- **Diseases:** squamous cell carcinoma (MONDO:0005096), head and neck cancer (MONDO:0005627)

## Full-text entities

- **Genes:** BRCA1 (BRCA1 DNA repair associated) [NCBI Gene 672] {aka BRCAI, BRCC1, BROVCA1, FANCS, IRIS, PNCA4}
- **Diseases:** Head and Neck Cancer (MESH:D006258), SCC (MESH:D002294), HNSCC (MESH:D000077195), CUP (MESH:D009369)
- **Species:** Human papillomavirus (species) [taxon 10566], Homo sapiens (human, species) [taxon 9606], Nicotiana tabacum (American tobacco, species) [taxon 4097]

## Full text

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## Figures

3 figures with captions in the complete paper: https://tomesphere.com/paper/PMC11869142/full.md

## References

12 references — full list in the complete paper: https://tomesphere.com/paper/PMC11869142/full.md

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Source: https://tomesphere.com/paper/PMC11869142