Benign 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
| Benign tumors | Genetic marker(s) |
|---|---|
| Papillary fibroelastoma | Somatic activating mutations involving KRAS oncogene (canonical mutations involving codons G12, G13, or Q61) detected in a subset of cases.2,3 |
| Cardiac mxoma | Somatic mutations involving PRKAR1A is present in <10% of sporadic/non-syndromic cases. Germline mutations involving PRKAR1A is present in at least 50% of syndromic cases, most frequently in the context of Carney complex syndrome.4-6 |
| Cardiac fibroma | Somatic or germline mutations involving PTCH1 detected in some tumors.7,8 |
| Cardiac rhabdomyoma | Germline mutations involving TSC1 or TSC2. These mutations can show low-level mosaicism.9-12 |
| Adult cellular rhabdomyoma | Germline mutations involving TSC1 or TSC2. These mutations can show low-level mosaicism.9-12 |
| Cardiac lipoma and lipomatous hyertrophy of the atrium septae | t(2;19)(p13;p13.2) has been described in rare cases.13 HMGA2 gene rearrangement identified in rare cases. No evidence of MDM2 gene amplification.14 |
| Lipomatous hamartoma of atrioventricular valve | HMGA2 rearrangement identified in rare cases. No evidence of MDM2 gene amplification. Possible genetic overlap with cardiac lipoma.14 |
| Hamartoma of mature cardiac myocytes | No specific genetic findings so far |
| Mesenchymal cardiac hamartoma | No specific genetic findings so far |
| Cardiac hemangioma | No specific genetic findings so far |
| Conduction system hamartoma | Formerly known as histiocytoid cardiomyopathy. Inactivating mutations involving NDUFB11, which is located on the short arm of chromosome X and encodes a component of the mitochondrial Complex 1, or other related proteins.15-18 |
| Cystic tumor of atrioventricular node | No specific genetic findings so far |
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 | 28451458 | 2017 | KRAS mutation in papillary fibroelastoma: a true cardiac neoplasm? | Wittersheim M et al |
| 3 | 32141886 | 2020 | KRAS Mutations in Papillary Fibroelastomas: A Study of 50 Cases With Etiologic and Diagnostic Implications. | Bois MC et al |
| 4 | 10973256 | 2000 | Mutations of the gene encoding the protein kinase A type I-alpha regulatory subunit in patients with the Carney complex. | Kirschner LS et al |
| 5 | 24618615 | 2014 | PRKAR1A in the development of cardiac myxoma: a study of 110 cases including isolated and syndromic tumors. | Maleszewski JJ et al |
| 6 | 29262613 | 2017 | Recurrent somatic mutations of PRKAR1A in isolated cardiac myxoma. | He J et al |
| 7 | 18329553 | 2008 | Loss of the PTCH1 gene locus in cardiac fibroma. | Scanlan D et al |
| 8 | 26564558 | 2015 | Somatic copy number losses on chromosome 9q21.33q22.33 encompassing the PTCH1 loci associated with cardiac fibroma. | Zhang Q et al |
| 9 | 10340649 | 1999 | Novel 23-base-pair duplication mutation in TSC1 exon 15 in an infant presenting with cardiac rhabdomyomas. | Smith M et al |
| 10 | 16940165 | 2006 | Clinical and genotype studies of cardiac tumors in 154 patients with tuberous sclerosis complex. | Jóźwiak S et al |
| 11 | 34328706 | 2021 | Low-level mosaicism in tuberous sclerosis complex in four unrelated patients: Comparison of clinical characteristics and diagnostic pathways. | Manzanilla-Romero HH et al |
| 12 | 34480426 | 2021 | Detection of TSC1/TSC2 mosaic variants in patients with cardiac rhabdomyoma and tuberous sclerosis complex by hybrid-capture next-generation sequencing. | Wang S et al |
| 13 | 10824997 | 2000 | A t(2;19)(p13;p13.2) in a giant invasive cardiac lipoma from a patient with multiple lipomatosis. | Vaughan CJ et al |
| 14 | 24996689 | 2014 | Benign lipomatous masses of the heart: a comprehensive series of 47 cases with cytogenetic evaluation. | Bois MC et al |
| 15 | 10960495 | 2000 | A missense mutation in the mitochondrial cytochrome b gene in a revisited case with histiocytoid cardiomyopathy. | Andreu AL et al |
| 16 | 25921236 | 2015 | Exome sequencing of patients with histiocytoid cardiomyopathy reveals a de novo NDUFB11 mutation that plays a role in the pathogenesis of histiocytoid cardiomyopathy. | Shehata BM et al |
| 17 | 28050600 | 2017 | Histiocytoid cardiomyopathy and microphthalmia with linear skin defects syndrome: phenotypes linked by truncating variants in NDUFB11. | Rea G et al |
| 18 | 30423443 | 2019 | Diverse phenotype in patients with complex I deficiency due to mutations in NDUFB11. | Reinson K et al |
Citation
Yin (Rex) Hung, MD
Benign tumors of the heart
Atlas Genet Cytogenet Oncol Haematol. 2023-05-08
Online version: http://atlasgeneticsoncology.org/solid-tumor/209126/benign-tumors-of-the-heart
