Table 1 Characteristics of the patient samples included in this study
Age/sex | Sokal score | Karyotype | Diagnosis | Time after diag (m) | CCS reads | PacBio results | Sanger results | |
|---|---|---|---|---|---|---|---|---|
Patient 1 | 43/M | high risk | 46,XY,t(9;22)(q34;q11)[20] | CP CML | 0 | 37432 | wildtype | ND |
ND | CP CML | 7 | 32703 | T315I (3.9%) | wildtype | |||
ND | CP CML | 9 | 30251 | T315I (53,5%) | ND | |||
Patient 2 | 70/M | high risk | 46,XY,t(9;22)(q34;q11)[25] | CP CML | 0 | 23089 | wildtype | ND |
46,XY,t(9;22)(q34;q11)[19]/ | 6 | 27633 | wildtype | ND | ||||
46,XY,t(9;22)(q34;q11)[4]/46,XY,idem,del(11)(q14)[16] | AP CML | 43 | 34467 | wildtype | wildtype | |||
ND but later sample shows 46,XY,t(9;22)(q34;q11)del(11)(q14)[20] | 64 | 41963 | T315I (98%) | T315I | ||||
Patient 3 | 65/M | high risk | 46,XY,t(9;22)(q34;q11)[25] | CP CML | 0 | 35377 | wildtype | ND |
46,XY,t(9;22)(q34;q11)[24]/46,XY[1] | CP CML | 3 | wildtype | ND | ||||
46,XY,t(9;22)(q34;q11)[6]/47sl,i(17)(q10),add(20)(p13),+mar[4]/46,XY[10] | AP CML | 49 | 39685 | T315I (88,9%), F359C (4,2%) | T315I | |||
46,XY,t(9;22)(q34;q11)[3]/46,XY,del(5q)[6]/46,XY[10] | AP CML | 55 | 42642 | T315I (94,8%), F359C (2,2%), D276G (1,8%), H396R (1%) | T315I | |||
Patient 4 | 61/F | high risk | 46,XX,t(9;22)(q34;q11)[25] | CP AML | 0 | 36658 | wildtype | ND |
46,XX[20] | CP CML | 111 | 41922 | F359I (83,1%), T315I (13,5%) | F359I, T315I | |||
Patient 5 | 66/M | ND | CP CML | 0 | 24062 | wildtype | ND | |
46,XY,del(6)(q2?1;q2?3),-7,t(9;22)(q34;q11)[20] | Blast crisis | 4 | 28446 | Y253H (94,8%), E255V (1,8%) | Y253H | |||
Patient 6 | 65/M | 46,XY,t(9;22)(q34;q11)[20] | CP CML | 0 | 32982 | wildtype | ND | |
46,XY,t(9;22)(q34;q11)[11]/ | CP CML | 7 | 29221 | 4 isoforms | wildtype | |||
46,XY[20] | CP CML | 13 | 34726 | 3 isoforms | ND |