Malignant tumors of the heart
2023-05-08 Yin (Rex) Hung, MD Affiliation1.Massachusetts General Hospital and Harvard Medical School, Boston
Classification
Definition
Tumors of the heart include most commonly metastases from elsewhere and, less frequently, primary cardiac tumors. Primary cardiac tumors include a heterogeneous collection of both benign and malignant tumors, with different histologic, clinical, and molecular characteristics.1 Primary malignant tumors of the heart include cardiac angiosarcoma, cardiac leiomyosarcoma, cardiac undifferentiated pleomorphic sarcoma, and other sarcomas that may originate from and involve the heart. Cardiac undifferentiated pleomorphic sarcoma by definition does not exhibit any specific line of differentiation by histomorphologic, immunohistochemical, and molecular analysis.
| Malignant tumors | Genetic marker(s) |
|---|---|
| Cardiac angiosarcoma | Typically complex karyotype with frequent tumor suppressor mutations involving TP53 or CDKN2A, along with activating mutations in the VEGF signaling pathway involving KDR, PLCG1, or POT1. While many of the mutations are typically somatic, mutations in TP53 and POT1 can be germline.2-6 |
| Cardiac leiomyosarcoma | Limited cytogenetic/genetic data for primary cardiac leiomyosarcoma |
| Cardiac undifferentiated pleomorphic sarcoma | MDM2 amplification detected in a subset of tumors, suggesting genetic overlap with intimal sarcoma that arises from the pulmonary artery. In addition to MDM2 gene amplification, frequent co-amplification of CDK4 and PDGFRA has been reported, along with deletion of CDKN2A. In tumors negative for MDM2 amplification, amplifications involving other genes such as MDM4 and CDK6 has been reported.7-9 |
Article Bibliography
| Reference Number | Pubmed ID | Last Year | Title | Authors |
|---|---|---|---|---|
| 1 | 34774791 | 2022 | The 2021 WHO Classification of Tumors of the Heart. | Maleszewski JJ et al |
| 2 | 11277410 | 2001 | Chromosomal abnormalities and p53 gene mutation in a cardiac angiosarcoma. | Zu Y et al |
| 3 | 26403419 | 2015 | A mutation in the POT1 gene is responsible for cardiac angiosarcoma in TP53-negative Li-Fraumeni-like families. | Calvete O et al |
| 4 | 27818284 | 2017 | Cardiac angiosarcoma: histopathologic, immunohistochemical, and cytogenetic analysis of 10 cases. | Leduc C et al |
| 5 | 28056866 | 2017 | Case report: whole exome sequencing of primary cardiac angiosarcoma highlights potential for targeted therapies. | Zhrebker L et al |
| 6 | 31510873 | 2019 | POT1 and Damage Response Malfunction Trigger Acquisition of Somatic Activating Mutations in the VEGF Pathway in Cardiac Angiosarcomas. | Calvete O et al |
| 7 | 28474091 | 2017 | Cardiac intimal sarcoma with PDGFRβ mutation and co-amplification of PDGFRα and MDM2: an autopsy case analyzed by whole-exome sequencing. | Ito Y et al |
| 8 | 30275026 | 2018 | Primary undifferentiated pleomorphic cardiac sarcoma with MDM2 amplification presenting as acute left-sided heart failure. | Watson R et al |
| 9 | 34312479 | 2021 | Intimal sarcomas and undifferentiated cardiac sarcomas carry mutually exclusive MDM2, MDM4, and CDK6 amplifications and share a common DNA methylation signature. | Koelsche C et al |
Citation
Yin (Rex) Hung, MD
Malignant tumors of the heart
Atlas Genet Cytogenet Oncol Haematol. 2023-05-08
Online version: http://atlasgeneticsoncology.org/solid-tumor/209125/malignant-tumors-of-the-heart
