The mutational profile of patients with acute myeloid leukemia AML can have profound effects on their disease progression and treatment regimens. To discuss the current state of treatment for this leukemia, Brunangelo Falini, MD, professor of hematology at the University of Perugia in Italy, and associates, presented a case study including 4 patients with NPM1 -mutated AML, which was published in the journal Blood. Assessing additional gene mutations is prudent, as NPM1 mutations have been found in combination with mutations such as Abelson murine leukemia kinase 1 ABL1 , runt-related transcription factor 1 RUNX1 , and fms-related receptor tyrosine kinase 3 FLT3 , and the expression of mutants may alter clinical progression. Unlike other leukemia-associated gene mutations, NPM1 mutants do not drive clonal hematopoiesis and are good targets for MRD monitoring.
GDC Dave Tools
Scientists study the effect of mutations of Alzheimer's disease
This interactive, modular lab explores the tools that doctors use to examine and diagnose patients with heart conditions. In this lab, students collect and interpret data using various tools and tests for detecting heart conditions. The lab includes examples of medical exams involving auscultation listening with a stethoscope , an echocardiogram, an MRI scan, and pedigree charts. After interpreting their results and answering questions, students offer diagnoses for each patient.
Large international study pinpoints impact of TP53 gene mutations on blood cancer severity
The GDC provides researchers with access to standardized data from cancer studies. The GDC provides a platform for efficiently querying and downloading high-quality and complete data. The GDC processes and tools guide data submission. The GDC provides documentation and support resources to assist users.
This activity explores the content and research presented in the short film Genes as Medicine , which tells the story of how scientists succeeded in developing a gene therapy for a type of congenital blindness. Gene therapy is an approach for treating inherited diseases by delivering corrective versions of genes to patients. Genes as Medicine tells the story of the successes and setbacks of two scientists working to develop a gene therapy for Leber congenital amaurosis, a type of childhood blindness.