Table 1.
Glomus Tumors Showing NOTCH Rearrangements by FISH
GT# | Age/Gender | Location | Benign/Malignant | NOTCH FISH | MIR143 FISH |
---|---|---|---|---|---|
1 * | 77/F | Small bowel | malignant | NOTCH2 | + |
2* | 54/F | Neck ST | benign | NOTCH1 | +α |
3 | 68/M | Thigh | benign | NOTCH2 | + |
4 | 48/M | Thigh | benign | NOTCH2 | + |
5 | 52/M | Arm | benign | NOTCH2 | + |
6 | 36/M | Kidney | malignant | NOTCH2¥ | − |
7 | 32/M | Gastric, omental implants | malignant | NOTCH2¥ | + |
8 | 16/M | Leg | benign | NOTCH2 | − |
9 | 52/M | Knee | benign | NOTCH2 | + |
10 | 52/M | Stomach | benign | NOTCH2 | + |
11 | 69/M | Buttock | benign | NOTCH2 | + |
12 | 57/M | Forearm | benign | NOTCH2 | + |
13 | 67/M | Buttock | benign | NOTCH2 | + |
14 | 41/M | Main-stem bronchus | benign | NOTCH2 | + |
15 | 64/M | Leg | benign | NOTCH2 | + |
16 | 49/F | G–E junction | malignant | NOTCH2 | − |
17 | 74/M | Foot | malignant | NOCTH2 | − |
18Ω | 47/M | Finger | benign | NOTCH2 | − |
19 | 41/M | Forearm | benign | NOTCH3 | + |
20 | 31/M | Knee | benign | NOTCH3 | − |
21 | 57/M | Knee | benign | NOTCH3 | − |
GT, glomus tumor;
index cases studied by RNA-seq;
confirmed by RNA-seq and RT-PCR, but by FISH rearranged in <10% cells by FISH; ST, soft tissue;
NOTCH2 break-apart signal in the benign component, while the malignant area showed low level of amplification of centromeric part with loss of the telomeric region;
NF1-developed GT, metachronous neurofibroma and MPNST negative for NOTCH2 rearrangements.