Table 2 Molecular features of paratesticular rhabdomyomas.
CASE | DNA SEQ | RNA SEQ | TMB | MTC2 | MUTATIONS (NUCLEOTIDE CHANGE) | MUTATIONS (AA CHANGE) | VAF | CNV3 | GENE FUSIONS4 |
|---|---|---|---|---|---|---|---|---|---|
11 | YES | YES | 1.5 | 81 | H3C2 c.110 A > T | H3C2 p.K37I | 5 | None | Failed |
21 | YES | NO | 3.8 | 201 | H3C2 c.110 A > T | H3C2 p.K37I | 9 | None | NA |
FANCE c.1532del | FANCE c.1532del (p.G511Afs*6) | 48 | |||||||
3 | YES | YES | 2.3 | 237 | H3C2 c.110_111inv | H3C2 p.K37I | 9 | None | MON1A::CIC5 |
41 | YES | YES | 6.1 | 244 | H3C2 c.110 A > T | H3C2 p.K37I | 11 | None | Failed |
51 | YES | YES | 2.3 | 91 | H3C2 c.110 A > T | H3C2 p.K37I | 8 | None | Failed |
6 | YES | YES | 3.8 | 294 | BRIP1c.3196del | BRIP p.S1066Hfs*12 | 38 | +5q, +16, +17, +20 | Negative |
7 | YES | YES | 3.8 | 291 | MSH6 c.1634_1637del | MSH6 p.K545Rfs*25 | 36 | +7, +8, +14q, +18q, -20 | Negative |
8 | YES | YES | 4.5 | 244 | None | None | NA | + 5, +7, +8, +12, +17, +19q, +20, +22q | Negative |
9 | YES | NO | 3 | 230 | None | None | NA | + 5, +6, +7, +12, +16, +21q | NA |
10 | YES | YES6 | 3 | 199 | None | None | NA | None | Failed |
111 | YES | YES6 | NA | 250 | None | None | NA | None | Failed |
121 | YES | NO | 2.3 | 136 | None | None | NA | None | NA |
13 | YES | NO | 2.3 | 125 | None | None | NA | None | NA |
14 | YES | NO | 4.6 | 217 | None | None | NA | None | NA |
151 | YES6 | YES6 | NA | NA | NA | NA | NA | NA | Failed |
