Nasal chondromesenchymal hamartoma (NCMH): a rare DICER1-associated tumour in an adult male.
Genetic screening / counselling
Otolaryngology / ENT
Pathology
nasal polyps
Journal
BMJ case reports
ISSN: 1757-790X
Titre abrégé: BMJ Case Rep
Pays: England
ID NLM: 101526291
Informations de publication
Date de publication:
15 Nov 2023
15 Nov 2023
Historique:
pmc-release:
15
11
2025
medline:
17
11
2023
pubmed:
16
11
2023
entrez:
15
11
2023
Statut:
epublish
Résumé
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.
Identifiants
pubmed: 37967930
pii: 16/11/e254457
doi: 10.1136/bcr-2022-254457
pmc: PMC10660983
pii:
doi:
Substances chimiques
DICER1 protein, human
EC 3.1.26.3
Ribonuclease III
EC 3.1.26.3
DEAD-box RNA Helicases
EC 3.6.4.13
Types de publication
Case Reports
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Informations de copyright
© BMJ Publishing Group Limited 2023. No commercial re-use. See rights and permissions. Published by BMJ.
Déclaration de conflit d'intérêts
Competing interests: None declared.