Clinical and Genetic Features of the 21 Hematologic Malignancies With i(17q)
| Case No. . | Sex/ Age (yr) . | Disease . | Karyotype . | % i(17q) by Interphase FISH . | TP53 Coding Mutation . |
|---|---|---|---|---|---|
| 1 | M/77 | CML BC | 47,XY,+8,t(9;22)(q34;q11),i(17)(q10)[5] | 91 | No* |
| 2 | F/61 | CLL | 46,XX,i(17)(q10)[11] | 90 | No |
| 3 | M/78 | CLL | 46,XY,i(17)(q10)[9]/46,XY[6] | 69 | No† |
| 4 | M/73 | MDS | 46,XY,i(17)(q10)[10] | 86 | No‡ |
| 5 | M/74 | MDS | 46,XY,i(17)(q10)[7]/46,XY[3] | 75 | No |
| 6 | F/74 | AML | 46,XX,del(6)(q14q22),i(17)(q10)[9] | 95 | No |
| 7 | M/60 | MDS | 47,XY,+13,i(17)(q10)[8]/46,XY[7] | 82 | No |
| 8 | F/3 | ALL | 53-55,XX,+5,+6,+8,+9,+10,+13,i(17)(q10),+18,+19,+21,+mar[19]/46,XX[5] | ND | No |
| 9 | M/57 | MDS | 45,XY,der(13;14)(q10;q10)c[1]/45,idem,i(17)(q10)[24] | ND | ND |
| 10 | M/70 | MDS | 46,XY,i(17)(q10)[23]/46,XY[2] | 82 | No |
| 11 | M/76 | MDS | 46,XY,i(17)(q10)[25] | 77 | No |
| 121-153 | M/16 | CML BC | 46,XY,t(9;22)(q34;q11)[3]/49,idem,+8,+14,i(17)(q10),+19[5] | 95 | No |
| 13 | F/50 | CML BC | 47,XX,+8,t(9;22)(q34;q11),i(17)(q10)[25] | 89 | No1-155 |
| 14 | F/45 | CML BC | 46,XX,t(9;22)(q34;q11),i(17)(q10)[23]/47,idem,+mar[2] | 93 | No |
| 15 | F/28 | CML BC | 46,XX,t(9;22)(q34;q11)[1]/47,idem,i(17)(q10),+21[4] | 52 | ND |
| 16 | M/74 | CML BC | 46,XY,t(9;22)(q34;q11),i(17)(q10)[1]/ 47,idem,add(4)(p12),+8[7]/48,idem,add(4)(p12), +8,+der(22)t(9;22)[2] | 93 | No |
| 17 | M/53 | AML | 46,XY,i(17)(q10)[9]/46,XY[6] | 75 | No |
| 18 | F/30 | CML BC | 46,XX,t(9;22)(q34;q11)[18]/46,idem,i(17)(q10)[3]/ 46,idem, inv(3)(q21q26)[2]/46,idem,inv(3), i(17)(q10)[2] | 55 | No |
| 19 | M/73 | CML BC | 45,X,−Y,t(9;22)(q34;q11),i(17)(q10)[26] | 95 | No1-154 |
| 20 | M/78 | MDS | 46,XY,i(17)(q10)[17]/46,XY[8] | ND | ND |
| 21 | F/82 | MDS | 46,XX,i(17)(q10)[11] | ND | ND |
| Case No. . | Sex/ Age (yr) . | Disease . | Karyotype . | % i(17q) by Interphase FISH . | TP53 Coding Mutation . |
|---|---|---|---|---|---|
| 1 | M/77 | CML BC | 47,XY,+8,t(9;22)(q34;q11),i(17)(q10)[5] | 91 | No* |
| 2 | F/61 | CLL | 46,XX,i(17)(q10)[11] | 90 | No |
| 3 | M/78 | CLL | 46,XY,i(17)(q10)[9]/46,XY[6] | 69 | No† |
| 4 | M/73 | MDS | 46,XY,i(17)(q10)[10] | 86 | No‡ |
| 5 | M/74 | MDS | 46,XY,i(17)(q10)[7]/46,XY[3] | 75 | No |
| 6 | F/74 | AML | 46,XX,del(6)(q14q22),i(17)(q10)[9] | 95 | No |
| 7 | M/60 | MDS | 47,XY,+13,i(17)(q10)[8]/46,XY[7] | 82 | No |
| 8 | F/3 | ALL | 53-55,XX,+5,+6,+8,+9,+10,+13,i(17)(q10),+18,+19,+21,+mar[19]/46,XX[5] | ND | No |
| 9 | M/57 | MDS | 45,XY,der(13;14)(q10;q10)c[1]/45,idem,i(17)(q10)[24] | ND | ND |
| 10 | M/70 | MDS | 46,XY,i(17)(q10)[23]/46,XY[2] | 82 | No |
| 11 | M/76 | MDS | 46,XY,i(17)(q10)[25] | 77 | No |
| 121-153 | M/16 | CML BC | 46,XY,t(9;22)(q34;q11)[3]/49,idem,+8,+14,i(17)(q10),+19[5] | 95 | No |
| 13 | F/50 | CML BC | 47,XX,+8,t(9;22)(q34;q11),i(17)(q10)[25] | 89 | No1-155 |
| 14 | F/45 | CML BC | 46,XX,t(9;22)(q34;q11),i(17)(q10)[23]/47,idem,+mar[2] | 93 | No |
| 15 | F/28 | CML BC | 46,XX,t(9;22)(q34;q11)[1]/47,idem,i(17)(q10),+21[4] | 52 | ND |
| 16 | M/74 | CML BC | 46,XY,t(9;22)(q34;q11),i(17)(q10)[1]/ 47,idem,add(4)(p12),+8[7]/48,idem,add(4)(p12), +8,+der(22)t(9;22)[2] | 93 | No |
| 17 | M/53 | AML | 46,XY,i(17)(q10)[9]/46,XY[6] | 75 | No |
| 18 | F/30 | CML BC | 46,XX,t(9;22)(q34;q11)[18]/46,idem,i(17)(q10)[3]/ 46,idem, inv(3)(q21q26)[2]/46,idem,inv(3), i(17)(q10)[2] | 55 | No |
| 19 | M/73 | CML BC | 45,X,−Y,t(9;22)(q34;q11),i(17)(q10)[26] | 95 | No1-154 |
| 20 | M/78 | MDS | 46,XY,i(17)(q10)[17]/46,XY[8] | ND | ND |
| 21 | F/82 | MDS | 46,XX,i(17)(q10)[11] | ND | ND |
Abbreviations: M, male; F, female; ND, not determined.
A previously described polymorphism in exon 4, Arg72Pro (CGC → CCC), was found (see Results). Exons 2-3 were not analyzed.
Exons 2,3, and 7 were not analyzed.
No PCR products were obtained using primers specific for exons 4-11 of TP53, whereas two microsatellite markers (D17S1322and D17S1326) in 17q, and one (D17S379) in 17p13, yielded fragments of expected sizes (see Results).
Case 12 has previously been reported in ref 48.
Exons 2-5 were not analyzed.
A noncoding polymorphism was found in intron 9 [exon 9 (+12) T → C].