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Table 1 Comparison of reported NUTM1-rearranged primary brain tumors

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
  1. *Features of cases 1 and 2 are based on overall description of CNS Ewing sarcoma family tumor with CIC alteration cases reported in reference [6]
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