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HNRNPH3 and Salivary Duct Carcinoma

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.

References

  • Human pathology • 2019 • The repertoire of genetic alterations in salivary duct carcinoma including a novel HNRNPH3-ALK rearrangement PMID:30946933
  • Human mutation • 2005 • Strong bias in the location of functional promoter polymorphisms PMID:16086313

Evidence Based Scoring (AI generated)

Gene–Disease Association

Limited

A single novel HNRNPH3-ALK rearrangement was identified in 1 of 29 salivary duct carcinoma cases (PMID:30946933) without segregation data.

Genetic Evidence

Limited

The genetic evidence is restricted to a solitary rearrangement event observed in salivary duct carcinoma, which is insufficient to establish a strong causal relationship.

Functional Evidence

Limited

Promoter 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.