Table 2:
Immunohistochemical and molecular findings in RREB1::MRTFB fusion positive extra-glossal neoplasms
No | Case/reference | Reported as | Histology patterns | Mitoses/10 hpfs | Positive IHC | Negative IHC | Fusion findings |
---|---|---|---|---|---|---|---|
1 | Siegfried et al, 2018 [13] | Biphenotypic sarcoma | Monomorphic spindle cells fibrosarcoma-like | 4 | SMA, S100, desmin, myogenin | h-caldesmon, SOX10, EMA, p63, MUC4, AE1/AE3, CD34, STAT6, MDM2 | RREB1 exon 8/ MRTFB exon 11 |
2 | Makise et al, 2020 [14] | Unclassified/extra-glossal EMCMT | Round > > spindle | <1 | S100, GFAP, SMA, EMA, AE1/3, ER | Desmin, myogenin, SOX10, HMB45, MUC4, STAT6, CD34, BCOR, NKX2–2 | RREB1 exon 8/ MRTFB exon 11 |
3 | Makise et al, 2020 [14] | Unclassified/extra-glossal EMCMT | Spindle >> round > myxoid | <1 | S100, GFAP, SMA, EMA, AE1/3, pan-TRK, ER | AE1/AE3, desmin, myogenin, CD34, STAT-6, MUC4, SOX10, GLUT1, claudin-1, MDM2, DOG1, SSTR2a, ALK | RREB1 exon 8/ MRTFB exon 11 |
4 | Bubola et al (2020) [15] | EMCMT | EMCMT | 0 | SMA, S100, CD56, desmin, GFAP | SOX10, keratin (AE1/ AE3), chromogranin, calponin | RREB1 exon 8/ MRTFB exon 11 |
5 | Mechtersheimer et al, 2021 [16] | Biphenotypic sarcoma | Monomorphic spindle cells fibrosarcoma-like | 1 | SMA, S100, EMA, CD34 | Desmin, myogenin, GFAP, STAT6, AE1/AE3 | RREB1 exon 8/ MRTFB exon 11 |
6 | Current Case 1 | Unclassified fibromyxoid neoplasm | Fibromyxoid, perineurioma-like whorls | 5 | CD34, EMA (F+), claudin1 (F+) | Pankeratin, STAT6, SMA, desmin, GLUT1, S100, SOX10, GFAP, ERG, MUC4, INI1 retained | RREB1 exon 8/ MRTFB exon 11 |
7 | Current Case 2 | Unclassified fibromyxoid neoplasm | Fibromyxoid, chondromyxoid lobules | 0 | S100, CD68, EMA (F+) | Pankeratin, Brachyury, Claudin1, GFAP, MUC4, CD34, SOX10. INI1 retained | RREB1 exon 8/ MRTFB exon 11 |
8 | Current Case 3 | Chondromyxoid sinonasal hamartoma | Chondromyxoid hamartoma-like | 0 | S100, CD56 (focal), SATB2 (wk.) | Pankeratin, ERG, ALK, Brachyury, MUC4, Pan-Trk, SSTR2A, Desmin, MDM2 | RREB1 exon 8/ MRTFB exon 11 |
9 | Current Case 4 | Unclassified spindle and round cell neoplasm | Monomorphic spindle and round cell, highly cellular | 2 | Synaptophysin, GFAP, CD56, patchy CD99 and PAX8 | MUC4, NUT, Pan-TRK, STAT6, SS18 and ALK, EMA, p63, CK19, TLE1, S100, SMA, SOX10, CD34, CK34BetaE12, desmin, myogenin, Myo-D1, WT1, Chromogranin-A, Calcitonin, TTF1 | RREB1 exon 8/ MRTFB exon 11 |
10 | Current Case 5 | Low-grade mesenchymal neoplasm with rhabdomyoblastic differentiation and RREB::MRTFB fusion, not RMS | Monomorphic ovoid and round cells | 1 | MyoD1, desmin (focal), myogenin (focal) | GFAP, S100, betacatenin, CD34, CD117, CD3, CD19, CD45 | RREB1 exon 8/ MRTFB exon 11 |
EMCMT=ectomesenchymal chondromyxoid tumor; F=focal; IHC=immunohistochemistry; hpf=high power field; RMS=rhabdomyosarcoma.