Table 2 Clinical, biological, and genetic characteristics of TN-ET patients.
Patient no. | Age | Sex | Duration of follow up (months) | Outcome | Chromosome karyotype | Plateleta (106/μL) | WES | All exon analysis of JAK2 and MPL | HUMARA assay | TPO (pg/mL) | IL-6 (pg/mL) | Mk colony-forming assay |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
ET01 | 81 | F | 49 | Died due to aortic dissection | Normal karyotype | 58.2 | Not detected | ND | Ambiguous | ND | ND | Cell-autonomous |
ET02 | 74 | M | 47 | Alive | 45,X,−Y | 158.1 | DNMT3A, SRSF7 | ND | NA | 100.37 | 1.43 | Cell-autonomous |
ET03 | 20 | F | 22 | Alive | Normal karyotype | 56.0 | ND | Not detected | Ambiguous | 0.01 | 0.00 | ND |
ET08 | 38 | F | 24 | Alive | 46,XY,inv(9)(p12q13) | 167.4 | ND | Not detected | Polyclonal | 85.35 | 0.44 | ND |
ET10 | 53 | F | 66 | Alive | Normal karyotype | 113.3 | JAK2 I724T (germline) | ND | Ambiguous | 11.60 | 2.76 | Cell-autonomous |
ET15 | 16 | F | 103 | Alive | ND | 164.3 | MPL X636WX12 (germline) | ND | Polyclonal | 0.00 | 0.89 | ND |
ET16 | 37 | F | 128 | Alive | 46,XX,+X | 123.4 | Not detected | ND | Polyclonal | 169.59 | 2.52 | Cell-autonomous |
ET17 | 81 | F | 45 | Alive | Normal karyotype | 75.3 | ND | Not detected | Clonal | 0.00 | 2.32 | Cell-autonomous |
ET18 | 77 | M | 39 | Alive | Normal karyotype | 88.2 | MPL S204F, ZBTB7A, ADAMTS9, AGAP2, HEPACAM, MYPN, PDE1C, PLCD3, TCF3 | ND | NA | ND | ND | Cell-autonomous |
ET21 | 82 | M | 6 | Alive | Normal karyotype | 98.7 | ND | MPL A58V | NA | ND | ND | Cell-autonomous |
ET26 | 34 | F | 74 | Alive | 46,XX,t(6;12)(p21;p13) | 105.8 | Not detected | ND | Polyclonal | 60.62 | 2.07 | ND |
ET27 | 27 | F | 75 | Alive | Normal karyotype | 113.6 | Not detected | ND | Polyclonal | ND | ND | Cell-autonomous |
ET28 | 78 | M | 133 | Alive | 45,X.-Y | 63.7 | ND | Not detected | NA | ND | ND | ND |
ET31 | 18 | F | 46 | Alive | Normal karyotype | 93.9 | Not detected | ND | Polyclonal | 69.27 | 3.47 | ND |
ET32 | 51 | F | 18 | Alive | Normal karyotype | 63.1 | ND | Not detected | Ambiguous | 0.09 | 20.01 | ND |
ET33 | 15 | F | 43 | Alive | Normal karyotype | 131.7 | Not detected | ND | Ambiguous | 52.85 | 1.86 | Cell-autonomous |
ET36 | 63 | M | 148 | Alive | Normal karyotype | 130.8 | ND | Not detected | NA | ND | ND | ND |
ET38 | 44 | F | 141 | Alive | Normal karyotype | 105.9 | ND | Not detected | Polyclonal | 0.00 | 0.00 | Cell-autonomous |
ET39 | 33 | F | 17 | Alive | Normal karyotype | 100.2 | ND | Not detected | Polyclonal | 0.00 | 1.54 | Cell-autonomous |
ET40 | 66 | F | 67 | Alive | Normal karyotype | 153.9 | Not detected | ND | Polyclonal | 90.45 | 42.46 | ND |
ET41 | 37 | F | 16 | Alive | Normal karyotype | 55.6 | ND | Not detected | Polyclonal | 87.48 | 0.00 | ND |
ET45 | 28 | F | 2 | Alive | Normal karyotype | 146.6 | ND | Not detected | ND | ND | ND | ND |
ET46 | 24 | F | 15 | Alive | Normal karyotype | 68.8 | ND | Not detected | Ambiguous | 35.69 | 0.00 | Cell-autonomous |
