From: A novel PARD3B-NUTM1 fusion in an aggressive primary CNS embryonal tumor in a young adult
 | Fusion gene | Age Sex Location | Histology | IHC profile | Course | Discovery | Reference |
---|---|---|---|---|---|---|---|
Cases 1 & 2 * | CIC-NUTM1 (2 cases) | Not available | Small-cell phenotype, alveolar and fascicular growth | NUT (strong). | Not available | RNA sequencing of select cases | 6 |
Case 3 | BRD4-NUTM1 | 3, Male, Parietal lobe | Small round cells. Epithelioid-polygonal cells with a reticular-alveolar pattern and prominent myxoid stroma. Nuclear molding, speckled chromatin and conspicuous mitotic activity. | GFAP (2+, focal), synaptophysin (1+), NUT (5+). Negative: pan-keratin, HMWK, LMWK, C4, p63, chromogranin | Died of disease 12 months post-op with chemotherapy | Retrospective RNA sequencing of undifferentiated tumors with nuclear isomorphism | 4 |
Case 4 | ATXN1-NUTM1 | 21, Female, Frontal lobe | Fascicular architecture and chondro-myxoid areas; some neuron-like tumor cells; large nucleoli | NUT, GFAP (strong), p53, CD56, Negative: OLIG2, S100, TTF1, chromogranin, synaptophysin, CD34, p63, CK5/6, SMA. Wild type: ATRX, INI1, BRG1 | Disease -free 16 months post-op | RNA sequencing of a brain tumor after classification by methylation profile and NUT IHC. | 7 |
Case 5 | PARD3B-NUTM1 | 29, Female, Frontal lobe | Variegated tumor consisting mostly of small epithelioid cells with myxoid or fibrillar background | NUT, CD99, CD56, p53, GFAP (focal), neurofilament (focal). Negative: Keratin, p63, desmin, S-100, chromogranin A, synaptophysin (only rare cells positive), OLIG2, IDH R132H, EMA, SOX10, actins, Wild-type: INI-1, ATRX | Died of disease one month post-op | DNA sequencing panel | Current case |