Diagnostic
Proteomic Maps of Human Gastrointestinal Stromal Tumor SubgroupsQuantitative proteome profiling of GIST from 13 patients classified into very low/low, intermediate and high-risk subgroups were performed. An extended cohort of GIST (n = 131) was used for immunohistochemical validation of proteins of interest. Functional insights into proteins associated with GIST risk grade were assessed. Immunohistochemical analysis revealed that GIST patients with high PTPN1 had low chances of developing metastasis. This work provides valuable information for understanding the inherent biology and evolution of GIST.
Proteome Analysis of Human Neutrophil Granulocytes From Patients With Monogenic Disease Using Data-independent AcquisitionData-independent acquisition proteomics was used to study proteome changes of naive human neutrophils in rare monogenic diseases affecting their functions. Neutrophils of patients with mutations in the neutrophil elastase gene ELANE demonstrated global proteome dysregulation, whereas chronic granulomatous disease and leukocyte adhesion deficiency had modest effects on the respective neutrophil proteomes. Proteomics then guided targeted genetic assays to resolve two clinical cases with undetermined genetic causes, highlighting the usefulness of mass spectrometry-based clinical diagnostics.