Table 3.
Mutations co-occurring with CSF3R mutations in myeloid neoplasms
| Gene | Frequency, (n) % | MPN 1 | MPN 2 | MPN 3 | MPN 4 | MPN 5 | MPN 6 | MPN 7 | MPN 8 | AML 9 | AML 10 |
|---|---|---|---|---|---|---|---|---|---|---|---|
| CSF3R | NA | T618I | T618I† and L780fs*7 | T618I | T618I | T618I | T618I | T618I | T618I | T618I | T618I |
| SETBP1 | (1/3) 33 | D868N | NT | NT | NT | NT | NT | NT | NT | ||
| ASXL1 | (3/10) 30 | R693* | L775* | R1068* | |||||||
| U2AF1 | (4/10) 40 | Q157P | Q157R | Q157P | ‡6 bp in-frame insertion | ||||||
| SRSF2 | (1/10) 10 | P95H | |||||||||
| CBL | (1/10) 10 | I383T | |||||||||
| CEBPA | (1/10) 10 | I55fs*106 and A111fs | |||||||||
| EZH2 | (1/10) 10 | N693fs*4 | |||||||||
| JAK2 | (1/10) 10 | V617F | |||||||||
| KDM6A | (1/10) 10 | S114C |
MPN defined here as subjects with aCML, CNL, or MPN not otherwise specified. Blank indicates wild-type or benign polymorphism; NA, not applicable; NT, not tested; fs*, frame shift mutation;
*
, truncation mutation;
†
, likely as a compound mutation;
‡
M160delinsYEM.
Courtesy of Richard D. Press and Erin Wiedmeier.
Other genes tested in this next generation sequencing panel but without pathogenic mutations: ABL1, BCOR, CBLB, CREBBP, DNMT3A, ETV6, FBXW7, FLT3, GATA1, GATA2, HRAS, IDH1, IDH2, IKZF1, IL7R, JAK1, JAK3, KIT, KRAS, MLL-PTD, MPL, NOTCH1, NPM1, NRAS, PAX5, PTPN11, RUNX1, SF3B1, STAT3, SUZ12, TET2, TP53, WT1, and ZRSR2.