Spliceosome mutations are common in persons with myeloproliferative neoplasm-associated myelofibrosis with RBC-transfusion-dependence and correlate with response to pomalidomide

Chowdhury, O.; O'Sullivan, J.; Barkas, N.; Wang, G.; Buck, G.; Hamblin, A.; Tefferi, A.; Al-Ali, H. K.; Barosi, G.; Devos, T.; Gisslinger, H.; Jiang, Q.; Kiladjian, J. -J.; Mesa, R.; Passamonti, F.; Ribrag, V.; Schiller, G.; Vannucchi, A. M.; Zhou, D.; Mcmullin, M. F.; Zhong, J.; Gale, R. P.; Mead, A. J.; Catalano, J.; Stevenson, W.; Gastl, G.; Linkesch, W.; Van Droogenbroeck, J.; Mineur, P.; Gupta, V.; Turner, A.; Nevill, T.; Li, J.; Shen, Z.; Liu, T.; Bordessoule, D.; Natarajan-Ame, S.; Recher, C.; Demory, J. L.; Schlenk, R.; Griesshammer, M.; Cazzola, M.; Saglio, G.; Specchia, G.; Rambaldi, A.; Pane, F.; Zweegman, S.; Te Boekhorst, P.; Raymakers, R.; Abdulkadyrov, K.; Sokolova, M.; Salogub, G.; Zaritskiy, A.; Cervantes, F.; Boluda, J. C. H.; Ojeda, E.; Tesfa, D.; Nilsson, L.; Drummond, M.; Reilly, J.; Harrison, C.; Milojkovic, D.; Rivera, C.; Besa, E.; Deeg, H. J.; Mascarenhas, J.; Prchal, J.; Tiu, R.; Talpaz, M.; Wang, J. C.; Rampal, R.; Rondelli, D.; Mccaul, K.; Brown, R.; Komatsu, N.; Ohyashiki, K.; Ando, K.; Kawabata, H.; Takenaka, K.; Hata, T.; Vardiman, J.

doi:10.1038/s41375-020-0979-6

Myeloproliferative neoplasm (MPN)-associated myelofibrosis is a clonal disorder characterised by decreased blood cell concentrations, bone marrow fibrosis and a risk of transformation to acute myeloid leukemia (AML). Persons who become RBC-transfusiondependent have a poor prognosis with limited therapeutic options to reverse their anemia.

Spliceosome mutations are common in persons with myeloproliferative neoplasm-associated myelofibrosis with RBC-transfusion-dependence and correlate with response to pomalidomide / Chowdhury O., O'Sullivan J., Barkas N., Wang G., Buck G., Hamblin A., Tefferi A., Al-Ali H.K., Barosi G., Devos T., Gisslinger H., Jiang Q., Kiladjian J.-J., Mesa R., Passamonti F., Ribrag V., Schiller G., Vannucchi A.M., Zhou D., McMullin M.F., et al.. - In: LEUKEMIA. - ISSN 0887-6924. - ELETTRONICO. - 35:(2021), pp. 1197-1202. [10.1038/s41375-020-0979-6]