Table 1 Patient characteristics and molecular profiling results
Pt. # | Clinical characteristics | Â | Molecular results | |||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Â | Age at Dx, years | Stage | Clinical presentation | TP53 status | PAX8 status | HER2 IHC | HER2 FISH | Recurrence | Pt. status | # of variants | Key alterations | Other alterations |
1 | 61 | IIIB | Vaginal discharge | Null | NEG | NEG | Equivocal | Y | Alive | 5 | BRCA2 p.Leu2688Pro; SLX4 p.Ala952Met | ATRX p.Glu69Gln; ARID1A p.Leu1831Val; ATR p.Glu1861Ala |
2 | 65 | IA2 | Pap: atypical glandular cells | Null | POS (focal) | POS | POS | Y | Deceased | 5 | MSH6 p.Phe1103Ile; CDKN2A p.Pro75Leu; CDKN2B p.Thr95Met | RNF43 p.Arg145Gln; FANCD2 p.Thr61Met |
3 | 79 | IB1 | Postmenopausal bleeding | Normal (WT) | POS (focal) | NEG | NEG | N | Alive | 4 | POLE p.Gln2217*; POLE p.Pro697Arg; CDKN2A p.Thr77Ile | MYC p.Arg450Trp |
4 | 68 | IB1 | Postmenopausal bleeding | Normal (WT) | POS (focal) | NEG | NEG | Y | Deceased | 4 | MSH2 p.Glu902fs | ARID1A p.Ser1930Ter; NOTCH2 p.Gly1452Glu; NBN p.Val346Met |
5 | 41 | IB1 | Pap: adenocarcinoma | Null | POS (focal) | NEG | Equivocal | Y | Alive | 4 | CDKN2A p.Thr77Ile; CDKN2A p.Pro75Ser; TP53 p.Asp184fs | SRC p.Asp407fs |
6 | 56 | IIIB | Postmenopausal bleeding | Normal (WT) | NEG | POS | POS | Y | Deceased | 6 | CDKN2B p.Thr95Met; TP53 p.Arg306Ter; TP53 p.Val157Phe | FGF19 p.Gly181Ser; CDK12 p.Asp52Asn; NOTCH3 p.Arg1619Cys |
7 | 35 | IIB | Vaginal discharge | Overexpressed (focal) | NEG | NEG | NEG | N | Alive | 8 | MSH2 p.Thr564Ala; MSH6 p.Phe1103Ile; CDKN2B p.Thr95Met; POLE p.Pro254Leu; SLX4 p.Ala952Met; TP53 p.Val173Leu; STK11 p.Tyr60Ter | DDR2 p.Val679Ile |
8 | 56 | IIIB | Pap: atypical glandular cells | Normal (WT) | POS (focal) | NEG | NEG | N | Alive | 13 | PMS2 p.Thr277Lys; BRCA2 p.Lys2434Thr; TP53 p.Arg181Pro; STK11 p.Met125fs; MDM2 12q15(69202190-69233452) amp | ARID1A p.Val5Ile; FBXW7 p.Cys466Tyr; FBXW7 p.Thr144Arg; RAD50 p.Arg87His; RAD51 p.Ala55Val; RAD51D p.Thr348Ile; RNF43 p.Arg127Gln; CHEK2 p.His371Tyr |
9 | 58 | IB1 | N/A | Null | POS (focal) | POS | POS | Y | Deceased | 14 | MLH1 p.Ser505Thr; CDKN2A p.Ala102fs; BRCA2 p.Ser2186fs; SLX4 p.Ala952Met; TP53 p.Arg196Ter | ARID1A p.Gly86Ser; DDR2 p.Gly253Ser; PIK3R1 p.Val589fs; TSC1 p.Ala882fs; FANCI p.Asn757Ser; CREBBP p.Val939fs; NF1 p.Trp696Ter; NOTCH3 p.Asp847Ter; ATRX p.Gly1038Arg |
10 | 58 | IB1 | Vaginal discharge; Pap: atypical glandular cells | Overexpressed | POS (focal) | NEG | NEG | N | Alive | 3 | CDKN2B p.Val97Met; POLE p.Gln2217Ter | RAD50 p.Gln799His |
11 | 66 | IVB | Vaginal discharge; Pap: adenocarcinoma | Null | NEG | NEG | NEG | Y | Deceased | 6 | MSH2 p.Thr526Ile; CDKN2B p.Thr95Met; KRAS p.Gly12Val; TP53 p.Trp53Ter; GNAS p.Arg201His | RAD51B p.Ala355Thr |
12 | 61 | IIA | Postmenopausal bleeding; Pap: malignant cells | Overexpressed | NEG | NEG | NEG | N | Alive | 8 | POLE p.Gln2217Ter; SLX4 p.Ser1616Phe; SLX4 p.Gly141Val; STK11 p.Cys132Ter | SF3B1 p.Lys666Thr; SETD2 p.Val768Leu; KRAS p.Glu63Lys; SMARCA4 p.Pro238_Gly241del |
13 | 35 | IIB | Vaginal discharge and bleeding | Normal (WT) | NEG | NEG | NEG | Y | Alive | 9 | MSH6 p.Ala23Thr; MSH6 p.Phe1103Ile; MSH6 p.Glu1254Asp; STK11 p.Ser193fs; MDM2 12q15(69202190-69233452) amp | FGFR1 p.Glu159Lys; RB1 p.Leu819Val; TSC2 p.Leu45Pro; FANCA p.Ser1061Gly |
14 | 41 | IB1 | Pap: atypical glandular cells | Overexpressed | NEG | NEG | Equivocal | N | Alive | 3 | MSH6 p.Phe1103Ile | NOTCH2 p.Leu744Val; AKT3 p.His139Tyr |
