Summary of TPO and MPL mutations associated with thrombocytosis.
| Authors . | Gene mutation . | Consequence . |
|---|---|---|
| TPO indicates thrombopoietin gene; uORF, upstream open reading frame; IVS, intron; UTR, untranslated region; MPL, thrombopoietin receptor (“myeloproliferative leukemia”); ET, essential thrombocythemia; PMF, primary myelofibrosis. | ||
| Wiestner29 | TPO, G>C in intron3 position +1 | Loss of uORF-mediated repression29 |
| Kondo,30 Ghilardi32 | TPO, deletion of G in 5′-UTR | Loss of uORF-mediated repression32 |
| Ghilardi31 | TPO, G>T in 5′-UTR | Loss of uORF-mediated repression31 |
| Jorgensen33 | TPO, A>G in intron3 position +5 | Not studied |
| Ding80 | MPL, G>A in exon 10 resulting in S505N in Mpl protein | Constitutively active Mpl protein |
| Moliterno53 | MPL-K39N | Co-dominant, mild thrombocytosis in homozygotes, function uncertain |
| El-Harith55 | MPL-P106L | Co-dominant, elevated Tpo serum levels |
| Kawamata51 | MPL-S204F | Found in uniparental disomy 1p, function uncertain |
| Williams 49 | MPL-S204P | Function uncertain |
| Komatsu41 | MPL-S505N | Constitutive activation of Mpl protein, autosomal dominant thrombocytosis |
| Chaligne50 | MPL-A506T | Function uncertain |
| Chaligne50 | MPL-L510P | Function uncertain |
| Pikman44 | MPL-W515L | Constitutive activation of Mpl protein, sporadic ET or PMF |
| Pardanani44 | MPL-W515K | Constitutive activation of Mpl protein, sporadic ET or PMF |
| Vannucchi46 | MPL-W515A | Constitutive activation of Mpl protein, sporadic ET or PMF |
| Chaligne50 | MPL-A519Y | Function uncertain |
| Kawamata51 | MPL-Y591D | Found in uniparental disomy 1p, function uncertain |
| Authors . | Gene mutation . | Consequence . |
|---|---|---|
| TPO indicates thrombopoietin gene; uORF, upstream open reading frame; IVS, intron; UTR, untranslated region; MPL, thrombopoietin receptor (“myeloproliferative leukemia”); ET, essential thrombocythemia; PMF, primary myelofibrosis. | ||
| Wiestner29 | TPO, G>C in intron3 position +1 | Loss of uORF-mediated repression29 |
| Kondo,30 Ghilardi32 | TPO, deletion of G in 5′-UTR | Loss of uORF-mediated repression32 |
| Ghilardi31 | TPO, G>T in 5′-UTR | Loss of uORF-mediated repression31 |
| Jorgensen33 | TPO, A>G in intron3 position +5 | Not studied |
| Ding80 | MPL, G>A in exon 10 resulting in S505N in Mpl protein | Constitutively active Mpl protein |
| Moliterno53 | MPL-K39N | Co-dominant, mild thrombocytosis in homozygotes, function uncertain |
| El-Harith55 | MPL-P106L | Co-dominant, elevated Tpo serum levels |
| Kawamata51 | MPL-S204F | Found in uniparental disomy 1p, function uncertain |
| Williams 49 | MPL-S204P | Function uncertain |
| Komatsu41 | MPL-S505N | Constitutive activation of Mpl protein, autosomal dominant thrombocytosis |
| Chaligne50 | MPL-A506T | Function uncertain |
| Chaligne50 | MPL-L510P | Function uncertain |
| Pikman44 | MPL-W515L | Constitutive activation of Mpl protein, sporadic ET or PMF |
| Pardanani44 | MPL-W515K | Constitutive activation of Mpl protein, sporadic ET or PMF |
| Vannucchi46 | MPL-W515A | Constitutive activation of Mpl protein, sporadic ET or PMF |
| Chaligne50 | MPL-A519Y | Function uncertain |
| Kawamata51 | MPL-Y591D | Found in uniparental disomy 1p, function uncertain |