TNNT2
Overview
TNNT2 (Troponin T2, Cardiac Type) encodes the cardiac isoform of troponin T, a component of the troponin complex that regulates muscle contraction. Heterozygous pathogenic variants in TNNT2 cause dilated cardiomyopathy (DCM) and hypertrophic cardiomyopathy. In the pediatric oncology context, TNNT2 appears as an ACMG secondary finding with important cardiology surveillance implications.
Alterations observed in the corpus
- TNNT2 R141Q heterozygous germline variant identified as an ACMG secondary finding in a pediatric patient with osteosarcoma (OS) in the PIPseq pediatric precision sequencing program (n=101, Columbia University); classified as a dilated cardiomyopathy risk variant requiring cardiology follow-up. PMID:28007021
Cancer types (linked)
- OS: TNNT2 R141Q was an incidental germline finding in an osteosarcoma patient; the variant is not considered causative for osteosarcoma but carries cardiac health-maintenance implications. PMID:28007021
Co-occurrence and mutual exclusivity
- TNNT2 R141Q was returned as an ACMG secondary finding unrelated to the primary oncologic diagnosis; no tumor co-mutation pattern reported. PMID:28007021
Therapeutic relevance
- TNNT2 R141Q warrants cardiology referral and surveillance for dilated cardiomyopathy; relevant to anthracycline-based chemotherapy monitoring in the osteosarcoma treatment context. PMID:28007021
Open questions
- 94% of PIPseq patients opted in to receive ACMG secondary findings; real-world management of TNNT2-related DCM risk in pediatric oncology patients receiving cardiotoxic therapy requires prospective study. PMID:28007021
Sources
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