Variant Synonymizer: Platform to identify mutations defined in different ways is available now!
Over 2,000 gene–disease validation summaries are now available—no login required!
This summary documents the association between HNRNPH3 and salivary duct carcinoma. In a study of 29 primary salivary duct carcinoma cases, a novel HNRNPH3-ALK rearrangement was observed in one case (PMID:30946933), suggesting that alterations involving HNRNPH3 may occur as a rare event in this aggressive malignancy. While no familial segregation data are available due to the somatic nature of the event, this isolated rearrangement, identified using a targeted multi‐gene panel, provides an initial genetic link between HNRNPH3 and salivary duct carcinoma.
Functional assessment studies have also reported that HNRNPH3 harbors promoter polymorphisms capable of altering gene expression in standardized reporter assays (PMID:16086313). However, although these functional data support a potential role in modulating expression, the direct contribution of HNRNPH3 alterations to the pathogenesis of salivary duct carcinoma remains limited. Key take‑home: despite supportive experimental data, the clinical utility of HNRNPH3 as a diagnostic marker in salivary duct carcinoma requires further investigation.
Gene–Disease AssociationLimitedA single novel HNRNPH3-ALK rearrangement was identified in 1 of 29 salivary duct carcinoma cases (PMID:30946933) without segregation data. Genetic EvidenceLimitedThe genetic evidence is restricted to a solitary rearrangement event observed in salivary duct carcinoma, which is insufficient to establish a strong causal relationship. Functional EvidenceLimitedPromoter polymorphism assays have shown that HNRNPH3 can modulate gene expression (PMID:16086313), but the functional impact within the context of salivary duct carcinoma remains unsubstantiated. |