PLAG1 rearrangement may be an oncogenic driver in a subset of sporadic cardiac myxomas: a case–control study - Report - MDSpire

PLAG1 rearrangement may be an oncogenic driver in a subset of sporadic cardiac myxomas: a case–control study

  • By

  • Fausto Maffini

  • Daniela Lepanto

  • Eleonora Pisa

  • Eisa De Camilli

  • Valentina Catto

  • Chiara Zanetti

  • Simona Pessina

  • Corrado Carbucicchio

  • Fabio Pagni

  • Nicola Fusco

  • May 20, 2026

  • 0 min

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Clinical Report: PLAG1 Rearrangements in Sporadic Cardiac Myxomas

Overview

This study identifies PLAG1 rearrangements in 35.7% of sporadic cardiac myxomas (SCMs), suggesting potential oncogenic roles. No MYC amplification was observed, reinforcing the benign nature of these tumors.

Background

Sporadic cardiac myxoma (SCM) is the most common primary heart tumor, yet its molecular pathogenesis is poorly understood. Unlike familial forms associated with the Carney complex, SCM lacks consistent genetic alterations. Understanding the genetic underpinnings of SCM could enhance diagnostic and therapeutic strategies.

Data Highlights

FindingPercentage
PLAG1 break-apart signals detected35.7% (5/14)
Atypical isolated 5′ signals64.3%
Atypical isolated 3′ signals85.7%
MYC amplification observed0%

Key Findings

  • PLAG1 rearrangements were found in 35.7% of SCM cases.
  • Atypical isolated signals for PLAG1 were observed in 64.3% and 85.7% of cases.
  • No MYC amplification was detected in any SCM cases.
  • Histological features were consistent with typical SCM morphology.
  • The study suggests potential molecular similarities between SCM and other tumors with myxoid stroma.

Clinical Implications

The identification of PLAG1 rearrangements in SCM may serve as a biomarker for further research into the tumor's pathogenesis. Clinicians should consider genetic evaluation in cases of SCM to better understand potential risks and management strategies.

Conclusion

The findings of PLAG1 rearrangements in SCM provide new insights into the molecular characteristics of these tumors and highlight the need for further investigation into their pathogenesis.

Related Resources & Content

  1. Acta Neuropathologica, 2023 -- PLAG1 Gene Fusions Broaden the Classification of CNS Tumors with PLAG(L) Alterations
  2. Acta Neuropathologica, 2024 -- Alterations in MYB and MYBL1 Genes in Gliomas Often Involve Truncations and Non-Functional Fusions
  3. Acta Neuropathologica, 2022 -- NTRK Gene Rearrangements as Potential Therapeutic Targets in Malignant Peripheral Nerve Sheath Tumors Associated with Neurofibromatosis Type 1
  4. JACC, 2025 -- 2025 ACC/AHA/ASE/ASNC/SCCT/SCMR Advanced Training Statement on Advanced Cardiovascular Imaging
  5. NCBI Bookshelf -- Carney Complex
  6. FGFR1 Mutation Activation in Sporadic Cases of Pheochromocytoma
  7. Contemporary guidance on cardiac mass management
  8. Genetics and the emerging role of PLAG1 in cardiac myxomas
  9. Evaluating risk factors of embolism in patients with cardiac myxoma: A systematic review and meta-analysis - ScienceDirect

Original Source(s)

PLAG1 rearrangement may be an oncogenic driver in a subset of sporadic cardiac myxomas: a case–control study

  • by Fausto Maffini, Daniela Lepanto, Eleonora Pisa, Eisa De Camilli, Valentina Catto, Chiara Zanetti, Simona Pessina, Corrado Carbucicchio, Fabio Pagni, Nicola Fusco

  • May 20, 2026

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