NPM1 mutation

Allogeneic hematopoietic stem cell transplantation (allo-HSCT) in first complete remission (CR1) showed the highest benefit in the NPM1-mut adverse-risk subgroup. The HARMONY classification provides the basis for a refined genetic risk stratification for adult NPM1-mut AML with potential clinical impact on allo-HSCT decision-making.

Bioinformatics analysis demonstrated high PLK2 expression was positively associated with oncogenes such as FAM163A, CTNND2, DAAM2, PITX1, POU1F1, mir-196a and negatively associated with tumor suppressors such as EMX2, PADI3, CDO1, SHOX2 and mir-508. In conclusion, the research elaborates on the expression profile and the clinical significance of PLK2 gene in AML, suggesting PLK2 expression may help risk stratification and hypothesis-generating for HSCT decision support.

In the AVALON cohort of relapsed/refractory AML treated with venetoclax plus hypomethylating agents, NPM1 and IDH1/2 mutations showed no significant impact on response or survival. These findings indicate that prognostic models for relapsed AML should consider treatment context rather than baseline mutation status.

This case adds to the limited literature reporting cup-like nuclear morphology in B-ALL, which is typically associated with varied cytogenetic abnormalities, including BCR::ABL1 fusion and hyperdiploidy [3, 4]. The findings emphasize the critical role of FCI and molecular studies in distinguishing AML from B-ALL or mixed phenotype acute leukemias.

Thus, treatment algorithms and prognostic systems based on outcomes from a single racial ancestry group are inadequate. Beyond the more traditional socioeconomic determinants of health, addressing disparities in AML to achieve equity in care requires exploring biological factors linked to ancestry that shape treatment response.

Allogeneic hematopoietic stem cell transplantation was associated with better survival, underscoring its significance. These findings reveal the genetic and clinical heterogeneity of NUP98-rearranged AML in adults and support its classification as a distinct entity, highlighting the need for fusion partner-specific therapeutic strategies.

Co-mixing of C-bodies and condensates formed by the onco-fusion of NUP98 or KMT2A/MLL1 in cells suggested them to be biophysically indistinguishable, indicative of a shared pathogenic mechanism. Altogether, recent studies of multiple genetic drivers in human cancers have revealed a type of chromatin-bound multi-component onco-condensates, which shall motivate the development of onco-condensate disruptors that could potentially be used as the broad treatments for cancer.

The clinicopathologic evolution over an 8-month period is detailed through analysis of 8 skin biopsies and 5 bone marrow examinations. The disease ultimately progressed to refractory acute myeloid (monoblastic) leukemia, and the patient died approximately 8 months after initial presentation.

Venetoclax with hypomethylating agents achieved a 44% response rate, mainly in secondary MS... MS demonstrates significant molecular heterogeneity. Routine site-specific NGS profiling may guide targeted therapy in this rare disease.

Overall, the results were highly satisfactory, particularly regarding MRD assessment, and highlighted key points for improvement, especially in baseline detection of FLT3-TKD2 and IDH1 mutations. This study represents the first collaborative initiative to evaluate performance of AML molecular targets within a laboratory network and underscores the importance of regular exercises to monitor performance, identify and resolve technical or interpretive discrepancies to ultimately ensure accurate clinical decision-making.

Notably, patients with normal karyotype and triple-positive mutation exhibited excellent 2-year LFS and OS (61% and 70%), indicating that allo-transplant overcomes the dismal outcome of this group. The impact of DNMT3A mutations on post-transplant outcomes in AML patients in first remission varies based on karyotype and co-mutations.