Table 1 List of cases and their corresponding mutations via exome sequencing.
Case | Description | No. of mutations | Mutations |
|---|---|---|---|
PT1 | Malignant PT with a more classic, “benign PT”-appearing component | 26 | ADAMTS17, ADAMTS15, ATF7, ATP1A3, B4GALT5, DDAH2, DDX54, DOCK5, EVX2, EZH1, FAM13C, FOSL2, GDPD4, GNAS, KMT2D, MFSD10, NCOR2, NETO1, NRAS, PDGFRB, RASEF, RORC, TMEM8A, TPX2, TRIM72, TTC17 |
PT2 | Borderline PT and subsequent spindle cell metaplastic carcinoma | 15 | MED12, ALKBH8, C1QA, C3orf67, CMTM5, DAGLA, DBF4B, GIT2, IGF1R, NF1, NOC2L, OR1A1, PIN1, SLC9C2, STARD9 |
PT3 | Borderline PT and separate hyalinised FA | 15 | ATP2B1, C18orf54, DOCK6, GRK5, KDELR1, KMT2D, MED12, NAP1L3, PLCE1, RARG, RB1, SLC11A2, SPIRE1, TMEM141, UBE3C |
PT4 | Borderline PT with FA-like area | 34 | AMPD1, ANTXRL, ATP9B, BCCIP, C8orf58, CAPN15, CD3EAP, CFAP20, ERBB4, FBRS, HCN1, KLHL23, LSP1, MELTF, MSH6, NPTXR, NR1D2, NRAS, PIK3CA, PPP1R3F, PRKACA, RITA1, RSPH4A, SIRPG, SLC13A2, SLC22A6, SLC23A1, STXBP1, TNXB, TOGARAM2, ZBTB7A, ZFHX4, ZNF630, ZNF786 |
PT5 | Malignant PT with periductal stromal tumour-like and FA-like areas | 9 | ADAMTS16, KLHDC2, MGAT3, NADK2, PDGFRB, PER3, SLC5A4, TP53, UBR4 |
PT6 | Malignant PT with rhabdoid cells and keratin positivity | 24 | ANK1, ANO8, CCDC151, CDH7, CDK4, COL1A2, COL3A1, GPRIN3, IL22RA1, KDM6A, MBTPS1, MED12, MSANTD4, NRAS, RBM27, RHOH, SF1, SLC22A23, SLC2A10, SPTY2D1, SVEP1, SYNDIG1L, TP53, WDFY4 |
PT7 | FAs and subsequent borderline PT | 34 | ADGB, ALPI, BCORL1, CYP2W1, DHX9, DICER1, FAM184A, HEATR4, HTATSF1, IREB2, KIF21B, LAGE3, MAN1A1, MC5R, MED1, MED12, NSRP1, OMD, PEX19, PIEZO1, PKHD1, PLCL1, PPP1R13L, PVR, RARA, RP2, RPAP2, SNAPC1, SNED1, SPACA4, TAS2R40, TCERG1L, TTLL4, USP37 |
