nut midline carcinoma
Findings
No curated finding names nut midline carcinoma yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
A rare, highly aggressive and lethal carcinoma that affects children and young adults. It arises from midline epithelial structures, most commonly the head, neck, and mediastinum. It is a poorly differentiated carcinoma and is characterized by mutations and rearrangement of the NUT gene. A balanced translocation t(15;19) is present that results in the creation of a fusion gene involving the NUT gene, most commonly BRD4-NUT fusion gene.
Definition from the Mondo Disease Ontology (MONDO:0005563), read 2026-09-29. CC BY 4.0.
Features
9 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- NeoplasmHPOHP:0002664
- Very frequent (80% to 99% of cases)
- Abnormal mediastinum morphologyHPOHP:0045026
- Frequent (30% to 79% of cases)
- Ewing sarcomaHPOHP:0012254
- Frequent (30% to 79% of cases)
- LeukemiaHPOHP:0001909
- Frequent (30% to 79% of cases)
- NeuroblastomaHPOHP:0003006
- Frequent (30% to 79% of cases)
- Oropharyngeal squamous cell carcinomaHPOHP:0012182
- Frequent (30% to 79% of cases)
- Pancreatoblastoma
Where it sits
- A kind of
Other names
5 names
Resolves to: nut midline carcinoma
- Also called
- carcinoma with t(15;19)(q13;p13.1) translocationMidline carcinoma of children and Young adults with NUT rearrangementNMCnuclear protein in testis midline carcinomaNUT carcinoma