Adema, Vera, Khouri, Jack, Ni, Ying, Rogers, Heesun J., Kerr, Cassandra M., Awada, Hassan, Nagata, Yasunobu, Kuzmanovic, Teodora, Advani, Anjali S., Gerds, Aaron T., Mukherjee, Sudipto, Nazha, Aziz, Saunthararajah, Yogen, Madanat, Yazan, Patel, Bhumika J., Solé, Francesc, Nawrocki, Steffan T., Carew, Jennifer S., Sekeres, Mikkael A., and Maciejewski, Jaroslaw P.
Here we investigate single codon I SF3B1 i mutations (K700E, K666, H662) to identify whether discrete amino acid substitutions may influence clinical phenotypes, survival and response to treatments in myeloid neoplasia (MN). These patients bearing isolated I SF3B1 i SP H662 sp mutations demonstrated a lower response (14.3%; 1/7) to standard therapies compared to other I SF3B1 i mutant patients (51.1%; 46/90; I p i =.058; two proportion z-test, uncorrected for multiple testing). Of the 7 patients: 5 patients received lenalidomide (LEN) (1 received LEN only, 1 also received also erythropoiesis stimulating agents (ESAs)/danazol, 1 was enrolled in the ARRY trial, and 2 also received 5-azacytidine), 1 patient received ESA and 1 patient received 5-azacytidine. Three of the patients with SF3B1H662 have co-mutations; thus 8 patients carry an isolated SF3B1H662 mutation. [Extracted from the article]