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Multiple large-scale genomic profiling studies have included LONP1 as part of targeted and whole-exome sequencing panels in diffuse large B-cell lymphoma (DLBCL). Somatic LONP1 variants were identified among the 475 genes sequenced in CD5-positive DLBCL cases (PMID:36081566), in MCD/C5-type ABC DLBCL (PMID:37730436), and as one of 38 genes in a simplified genetic subtyping algorithm encompassing 337 newly diagnosed DLBCL patients (PMID:37032379). Although LONP1 appears recurrently in gene lists across distinct DLBCL molecular subtypes, no specific recurrent coding variants or mutational hotspots have been reported, and variant allele frequencies were not disclosed.
To date, there is no evidence of germline segregation for LONP1 in familial DLBCL, nor have functional studies assessed the impact of DLBCL-associated LONP1 mutations on B-cell proliferation or survival. Consequently, the clinical validity of LONP1 in DLBCL remains limited. Future work should include systematic screening for LONP1 coding changes, functional assays in lymphoma models, and correlation with prognosis or treatment response. Key take-home: while LONP1 is a plausible candidate in DLBCL mutational repertoires, current data do not support its routine use in diagnostic or prognostic workflows.
Gene–Disease AssociationLimitedSomatic LONP1 alterations observed only in DLBCL sequencing panels without recurrent pathogenic variants or segregation data Genetic EvidenceLimitedObservational detection of LONP1 variants in multiple DLBCL cohorts without specific variant characterization or germline evidence Functional EvidenceLimitedNo DLBCL-specific functional assays have been conducted to establish pathogenicity of LONP1 mutations |