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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]