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Nasal chondromesenchymal hamartoma (NCMH): a rare DICER1-associated tumour in an adult male
  1. Konstantinos Paraschou1,
  2. Benjamin Miller1,
  3. Pavol Surda1 and
  4. Ann Sandison2
  1. 1ENT, Guy's and St Thomas' NHS Foundation Trust, London, UK
  2. 2Head and Neck / Oral Pathology, Guy's and St Thomas' NHS Foundation Trust, London, UK
  1. Correspondence to Dr Konstantinos Paraschou; konparaschou{at}yahoo.com

Abstract

An adult male presented to the ENT clinic with a 1-year history of unilateral nasal blockage. He had presented to another institution 5 years previously with the same issue, undergoing resection of what was reported to be a benign inflammatory polyp with osseous metaplasia. Detailed examination revealed a large mass filling the left nasal cavity. Excisional biopsy and secondary specialist review of pathology revealed nasal chondromesenchymal hamartoma (NCMH) with associated DICER1 mutations. NCMH is a rare, benign tumour of the sinonasal tract, presenting more often in the early childhood, with symptoms related to the site and extent of the tumour. As highlighted in this case, complete excision is mandatory for definitive diagnosis and treatment of NCMH, and an awareness of the association with DICER1 mutation, which can predispose individuals to a range of neoplasia, is key to providing appropriate genetic counselling.

  • nasal polyps
  • Otolaryngology / ENT
  • Pathology
  • Genetic screening / counselling

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Footnotes

  • Contributors The following authors were responsible for drafting of the text, sourcing and editing of clinical images, investigation of results, drawing original diagrams and algorithms and critical revision for important intellectual content: KP and BM. The following authors gave final approval of the manuscript: PS and AS.

  • Funding The authors have not declared a specific grant for this research from any funding agency in the public, commercial or not-for-profit sectors.

  • Case reports provide a valuable learning resource for the scientific community and can indicate areas of interest for future research. They should not be used in isolation to guide treatment choices or public health policy.

  • Competing interests None declared.

  • Provenance and peer review Not commissioned; externally peer reviewed.