Table 2:
FH and S-(2-succino)-cysteine (2SC) IHC staining with germline and somatic FH results for 20 patients with available atypical uterine leiomyoma tissue for research
| Case ID | Age at specimen collection | Germline FH results | FH IHC Results | 2SC IHC Results | Somatic FH sequencing |
|---|---|---|---|---|---|
| 102 | 45 | Pathogenic variant (c.1293del, p.Glu432Lysfs*17) | Negative | Positive | One inactivating frameshift variant (c.1293del, p.Glu432Lysfs*17), one intronic variant |
| 103 | 35 | Likely pathogenic variant (c.1020T>A, p.Asn340Lys) | Negative | Positive | One likely inactivating germline missense variant (c.1020T>A, p.Asn340Lys), four intronic variants |
| 104 | 36 | Likely pathogenic variant (c.1097G>A, p.Ser366Asn) | Positive | Positive | One likely inactivating germline missense variant (c.1097G>A, p.Ser366Asn), one likely inactivating frameshift variant (c.1188del, p.Gly397fs), three intronic variants |
| 105 | 26 | Negative | Negative | Positive | One inactivating missense variant (c.152G>A, p.Arg51Gln), one synonymous VUS (c.1267C>T, p.Leu423Leu), one intronic variant |
| 106 | 37 | Negative | Negative | Positive | Two intronic variants |
| 107 | 50 | Negative | Negative | Positive | Five intronic variants |
| 108 | 44 | Negative | Negative | Positive | Two intronic variants |
| 109 | 29 | Negative | Negative | Positive | One likely inactivating missense variant (c.1357C>A, p.Leu453Ile), four intronic variants |
| 110 | 46 | Negative | Negative | Positive | One likely inactivating nonsense variant (c.641T>G, p.Leu214*), eight intronic variants |
| 111 | 37 | Negative | Negative | Positive | One inactivating missense variant (c.583A>G, p.Met195Val), six intronic variants |
| 112 | 32 | Negative | Negative | Positive | One synonymous VUS (c.1264C>T, p.Leu422Leu), eight intronic variants |
| 113 | 52 | Negative | Positive | Negative | One inactivating missense variant (c.1256C>T, p.Ser419Leu), five intronic variants |
| 114 | 47 | Unknown (not tested) | Positive | Negative | Four intronic variants |
| 115 | 24 | Unknown (not tested) | Positive | Diffuse weak cytoplasmic positivity | Six intronic variants |
| 116 | 41 | Unknown (not tested) | Positive | Negative | One likely inactivating frameshift variant (c.422G>A, p.Trp141*), eight intronic variants |
| 117 | 25 | Unknown (not tested) | Positive | Positive | One synonymous VUS (c.1342C>T, p.Leu448Leu), four intronic variants |
| 118 | 50 | Unknown (not tested) | Positive | Diffuse weak cytoplasmic positivity | One intronic variant |
| 119 | 43 | Unknown (not tested) | Negative | Positive | One inactivating frameshift variant (c.1205del, p.His402fs), seven intronic variants |
| 120 | 31 | Unknown (not tested) | Positive | Positive | Five intronic variants |
| 121 | 38 | Unknown (not tested) | Positive | Negative | Seven intronic variants |
VUS=Variant of unknown significance, Coding=c., Protein=p.