Table 2.
Clinical and laboratory details of 12 systemic mastocytosis patients with TET2 mutation
| SM type | Exon | Nucleotide change | Consequence | Age | Sex | Hgb g/ 100 ml |
WBC ×109/L |
Plt. ×109/L |
AMC ×109/L |
JAK2 V617F |
KIT D816V |
Cyto. |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| ISM | 4 | 1777_1778insG | Frameshift | 78 | F | 9.9 | 3.2 | 238 | 0.4 | Neg. | Pos. | Normal |
| ISM | 12 | 723_724delAG | Frameshift | 64 | F | 12.7 | 5.0 | 202 | 0.6 | Neg. | Neg. | Normal |
| ASM | 4 | 3248_delT | Frameshift | 69 | M | 12.6 | 6.5 | 149 | 1.6 | Neg. | Neg. | -Y |
| 8 | 278_279insA | Frameshift | ||||||||||
| ASM | 4 | 1554_delG | Frameshift | 80 | F | 10.6 | 21.5 | 64 | 2.8 | Neg. | Pos. | Normal |
| SM-CMML-1 | 12 | 1305A>G | H1881R | 83 | M | 15.0 | 26.3 | 202 | 1.3 | Pos. | Neg. | 13q- |
| SM-CMML-1 | 4 | 2628C>T | Nonsense | 70 | F | 12.4 | 5.1 | 153 | 1.4 | Neg. | Pos. | Normal |
| SM- | 10 | 231 C>T | R1358C | 69 | F | 8.9 | 21.5 | 72 | 8.3 | Neg. | Neg. | Normal |
| CMML-1 | 11 | 287_delA | Frameshift | |||||||||
| SM-CMML-1 | 12 | 695_696insT | Frameshift | 75 | M | 10.8 | 51.1 | 12 | 11.2 | Neg. | Pos. | Normal |
| SM- | 4 | 3070_3071insA | Frameshift | 73 | F | 7.9 | 11.0 | 115 | 1.3 | Neg. | Neg. | Normal |
| RAEB-1 | 12 | 955_956insT | Frameshift | |||||||||
| SM- | 4 | 2812_2813insT | Frameshift | 50 | M | 8.7 | 8.2 | 97 | NA | Neg. | Pos. | −7 |
| RCMD | 12 | 252_262delCTCTACAGAAG | Frameshift | |||||||||
| SM-MPN | 8 | 236_delC | Frameshift | 53 | M | 8.8 | 73.4 | 54 | 2.9 | Neg. | Neg. | Normal |
| SM-MPN | 4 | 2468_2469insA | Frameshift | 61 | F | 14.5 | 16.4 | 33 | 0.7 | Neg. | Pos. | Normal |
| 6 | 208 C>T | Nonsense |
Abbreviations: AMC, absolute monocyte count; ASM, aggressive SM; CMML, chronic myelomonocytic leukemia; Cyto., bone marrow cytogenetic results; Hgb, hemoglobin level; ISM, indolent SM; MPN, myeloproliferative neoplasm; NA, not assessed; neg., negative; Plt., platelet count; pos., positive; RAEB, refractory anemia with excess blasts; RCMD, refractory cytopenia with multilineage dysplasia; SM, systemic mastocytosis; WBC, white blood cell count.