pISSN 2234-3806eISSN 2234-3814
Table. 2.
Cytogenetic and molecular genetic characteristics of patients with non-cryptic NUP98 rearrangement
| Case No. | Dx | Karyotype | NUP98 FISH (%) | Candidate partner gene | Identified partner gene | Breakpoint | FLT3-ITD | Targeted NGS |
|---|---|---|---|---|---|---|---|---|
| 1 | AML | 46,XY,inv(11)(p15q22)[19]/46,XY[1] | NA | DDX10 | DDX10 | NUP98 exon 14::DDX10 exon 7 | ND | NA |
| 2 | AML | 46,XY,inv(11)(p15q22)[12]/46,idem,del(5)(q22q33)[5]/46,XY[3] | 1F1R1G (59.5%) | DDX10 | DDX10 | NUP98 exon 14::DDX10 exon 7 | ND | KRAS c.35G>T, p.G12V (33.8%); WT1 c.1356_1358delinsTTC, p.Q452_C453delinsHS (30.0%) |
| 3 | MDS | 46,XX,inv(11)(p15q22)[14]/46,XX[6] | 1F1R1G (58.0%) | DDX10 | DDX10 | NUP98 exon 14::DDX10 exon 7 | NA | NA |
| 4 | CMML-2; AML | 46,XX,t(7;11)(p15;p15)[19]/46,XX[1] | 1F1R1G (91.5%) | HOXA9, HOXA11, HOXA13 | HOXA9 | NUP98 exon 12::HOXA9 exon 1 | ND | NA |
| 5 | AML | 46,XX,t(7;11)(p15;p15)[20] | 1F1R1G (92.5%) | HOXA9, HOXA11, HOXA13 | HOXA9 | NUP98 exon 11::HOXA9 exon 1 | ND | ND |
| 6 | AML | 49,XX,+4,t(7;11)(p15;p15),+8,+15[20] | 1F1R1G (83.5%) | HOXA9, HOXA11, HOXA13 | NA |
NA | ND | NA |
| 7 | MDS-EB2; AML | 46,XX,t(9;11)(p22;p15)[20] | 1F1R1G (78.5%) | PSIP1 | PSIP1 | NUP98 exon 9::PSIP1 exon 7 | NA | NA |
| 8 | AML | 46,XY,t(9;11)(p22;p15)[19]/46,XY[1] | 1F1R1G (94.0%) | PSIP1 | PSIP1 | NUP98 exon 9::PSIP1 exon 5 | ND | PHF6 c.902_903insGGGATAA, p.Y301 |
| 9 | AML | 46,XX,t(1;11)(q24;p15)[19]/46,XX[1] | 1F1R1G (82.0%) | PRRX1 | PRRX1 | NUP98 exon 11::PRRX1 exon 2 | ND | NA |
| 10 | AML | 46,XX,t(11;12)(p15;q13)[5]/46,XX[15] | 1F1R1G (80.5%) | HOXC13, HOXC11, RARG | HOXC11 | Inconclusive |
D | NA |
| 11 | AML | 47,XY,t(11;16)(p15;q23),+21[17]/46,XY[3] | 1F1R1G (43.5%) | Unknown | NA |
NA | ND | ASXL1 c.1934dup, G646Wfs |
*RT-PCR was not available because of the lack of a sample.
†Multiple bands were observed on RT-PCR electrophoresis, and sequencing yielded inconclusive results.
‡Targeted RT-PCR could not be performed for candidate partner genes because the partner gene of the NUP98 rearrangement at the 16q23 locus was unknown.
Abbreviations: Dx, diagnosis; FLT3-ITD, FLT3-internal tandem duplication; NGS, next-generation sequencing; MDS, myeloid dysplastic neoplasm; CMML, chronic myelomonocytic leukemia; MDS-EB2, MDS with excess blasts; NA, not available; ND, not detected, D, detected.
Ann Lab Med 2025;45:53~61 https://doi.org/10.3343/alm.2024.0190
© Ann Lab Med