Al-Shamsi et al. 2021 delineated the somatic mutational spectrum and frequency in Arab women with breast cancer. 78 women mostly with stage 3 or 4 breast cancer exhibited mutations and mutation rates in the following genes: TP53, 23.1%; ATM, 2.6%; IDH1, 2.6%; IDH2, 3.8%; PTEN, 7.7%; PIK3CA, 15.4%; APC, 7.7%; NPM1, 2.5%; MPL, 1.3%; JAK2, 2.5%; KIT, 7.7%; KRAS, 3.8%; and NRAS, 3.8%

El Hajj et al. 2015 studied the effects of retinoic acid (RA) and arsenic trioxide (arsenic) on acute myeloid leukemia (AML) cell lines with mutated NPM1, primary AML cells collected from three patients, and elderly AML patients with normal karyotype and mutated NPM1. Exposure to RA and arsenic was noted to induce selective apoptosis and upregulation of p53 in AML cell lines and primary samples with mutant NPM1. Combined RA/arsenic treatment also restored the nuclear localisation of NPM1 and promyelocytic leukemia (PML) nuclear bodies (ex vivo and in vivo), and reduced bone marrow blasts in three patients. El Hajj et al. suggested their findings support the addition of RA to chemotherapy in NPM1 mutant AMLs.

Salem et al. 2017a reported on two patients with AML that deveoped John Cunningham virus reactivation following cyclophosphamide and rituximab treatment after haploidentical stem cell transplantation. Molecular studies were negative for one patient, however were positive for NPM1 and FLT3 genes in the other patient who developed progressive multifocal leukodystrophy. To understand the molecular response of predictive markers to treatment, Salem et al. 2017b studied 12 adult patients with acute myeloid leukemia (AML) who were positive for both NPM1 and FLT3 mutations at the time of diagnosis. Molecular testing on bone marrow samples were carried out: at diagnosis; within regular intervals before and during chemotherapy and allo-SCT (allogeneic stem cell transplantation); and every three months after allo-SCT. All patients were positive for NPM1 frameshift mutations at diagnosis. Ten of them had FLT3 internal tandem duplications, whereas two patients were positive for FLT3 D835V mutation. All patients had tested negative for FLT3 mutation after induction and apart from two patients who had early deaths, the others remained negative. Only two out of 10 patients became negative for NPM1 mutations after induction and eight additional patients tested negative for NPM1 mutations after allo-SCT. Salem et al. noted that patients with a < 4-log reduction in peripheral blood minimal residual disease (PB-MRD) had better disease free survival and overall survival, supporting the prognostic significance of early NPM1 mutation PB-MRD.