First presentation of a frameshift mutation in the SETD2 gene of a juvenile psammomatoid ossifying fibroma (JPOF) associated with an aneurysmal bone cyst.
Biomarkers, Tumor
/ genetics
Bone Cysts, Aneurysmal
/ diagnostic imaging
DNA Mutational Analysis
Fibroma, Ossifying
/ diagnostic imaging
Frameshift Mutation
High-Throughput Nucleotide Sequencing
Histone-Lysine N-Methyltransferase
/ genetics
Humans
Male
Mandibular Neoplasms
/ diagnostic imaging
Odontogenic Tumors
/ diagnostic imaging
Young Adult
Aneurysmal bone cyst
Frameshift mutation
JPOF
Juvenile psammomatoid ossifying fibroma
Mandible
Next-generation sequencing
SETD2 gene
Journal
Diagnostic pathology
ISSN: 1746-1596
Titre abrégé: Diagn Pathol
Pays: England
ID NLM: 101251558
Informations de publication
Date de publication:
17 Oct 2021
17 Oct 2021
Historique:
received:
18
06
2021
accepted:
27
09
2021
entrez:
18
10
2021
pubmed:
19
10
2021
medline:
9
2
2022
Statut:
epublish
Résumé
The rarity of juvenile psammomatoid ossifying fibroma (JPOF) and lack of cytogenetic studies prompted us to report a novel SETD2 gene mutation in a benign odontogenic tumour. A 21-year-old man presented with a hard, expanded mandibular cortex. Computed tomography revealed multilocular radiopacity in the mandible; this was reconstructed via segmental mandibulectomy using a vascularised iliac crest flap. Based on the clinical and histological findings, we diagnosed JPOF associated with an aneurysmal bone cyst. Microscopically, the solid area was characterised by many rounded or angular ossicles in a cellular fibrous stroma. The stromal cells were spindle-like or stellate. Next-generation sequencing detected a frame shift mutation of the SETD2 gene, while the copy number was normal. Our findings suggest further genetic studies should be performed to assess whether this mutation is related to tumour genesis. .
Sections du résumé
BACKGROUND
BACKGROUND
The rarity of juvenile psammomatoid ossifying fibroma (JPOF) and lack of cytogenetic studies prompted us to report a novel SETD2 gene mutation in a benign odontogenic tumour.
CASE PRESENTATION
METHODS
A 21-year-old man presented with a hard, expanded mandibular cortex. Computed tomography revealed multilocular radiopacity in the mandible; this was reconstructed via segmental mandibulectomy using a vascularised iliac crest flap. Based on the clinical and histological findings, we diagnosed JPOF associated with an aneurysmal bone cyst. Microscopically, the solid area was characterised by many rounded or angular ossicles in a cellular fibrous stroma. The stromal cells were spindle-like or stellate. Next-generation sequencing detected a frame shift mutation of the SETD2 gene, while the copy number was normal.
CONCLUSIONS
CONCLUSIONS
Our findings suggest further genetic studies should be performed to assess whether this mutation is related to tumour genesis. .
Identifiants
pubmed: 34657606
doi: 10.1186/s13000-021-01160-w
pii: 10.1186/s13000-021-01160-w
pmc: PMC8520634
doi:
Substances chimiques
Biomarkers, Tumor
0
Histone-Lysine N-Methyltransferase
EC 2.1.1.43
SETD2 protein, human
EC 2.1.1.43
Types de publication
Case Reports
Langues
eng
Sous-ensembles de citation
IM
Pagination
91Informations de copyright
© 2021. The Author(s).
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