Pediatric breast tumors
2023-05-22 Paola Dal Cin, PhD , Rita Alaggio, MD Affiliation1.Brigham and Women's Hospital , Harvard Medical School, Boston , MA (USA)
2.IRCCS Ospedale Bambino Gesú , Roma (Italy)
Classification
Definition
Breast tumors in children are rare and mostly benign, with fibroadenomas being the most frequent histotype (90% of breast neoplasms). 1,2 Other histotypes include intraductal papilloma and phyllodes tumor. Malignancies in pediatric breast are represented mostly by metastases, especially rhabdomyosarcomas in adolescents, but also retinoblastoma or involvement by lymphomas, in particular Burkitt lymphoma. 3,4 Among the primitive malignancies arising in the breast, secretory carcinoma is most frequent epithelial malignancy while breast carcinomas are exceptionally rare. 5 Approximately 10% of breast cancers are hereditary, including not only those with BRCA1 and BRCA2 mutations, but also other rare germline mutations such as TP53 mutations in Li-Fraumeni syndrome OMIM:151623, STK11 mutations in Peutz-Jeghers syndrome OMIM:602216,and PTEN mutations in Cowden syndrome OMIM:615107. 3
| Pediatric breast tumors | Genetic marker(s) |
|---|---|
| Fibroepithelial tumors | The landscapes of genetic alterations across fibroepithelial tumor spectrum remain unclear. 6,7 MED12 at Xq13.1 exon 2 mutations in a subset of of fibroadenoma, similar to conventional adult fibroadenoma,8 and also in benign phyllodes tumors. 9 |
| Juvenile fibroadenoma | Fibroadenomas in the pediatric population have not been extensively genetically investigated. 10 MED12 mutations have been found in a subset of cases. TERT promoter mutations which are found more frequently in phyllodes tumours, were not detected in pediatric fibroadenomas. 8,9 |
| Juvenile papillomatosis | Several mutations have been reported, , the most frequent were PIK3CA and AKT1, often associated with positive family history for breast cancer. 11,12 |
Article Bibliography
| Reference Number | Pubmed ID | Last Year | Title | Authors |
|---|---|---|---|---|
| 1 | 20449731 | 2010 | Breast fibroadenomas in the pediatric population: common and uncommon sonographic findings. | Sanchez R et al |
| 2 | 30352693 | 2019 | A population-based analysis of pediatric breast cancer. | Westfal ML et al |
| 3 | 25958188 | 2015 | How to approach breast lesions in children and adolescents. | Gao Y et al |
| 4 | 20730885 | 2010 | Breast metastases in children and adolescents with rhabdomyosarcoma: Experience of the Italian Soft Tissue Sarcoma Committee. | D'Angelo P et al |
| 5 | 4045662 | 1985 | Juvenile secretory carcinoma of the breast. | Karl SR et al |
| 6 | 26437033 | 2015 | Genomic landscapes of breast fibroepithelial tumors. | Tan J et al |
| 7 | 34505197 | 2022 | Fibroepithelial tumours of the breast-a review. | Lerwill MF et al |
| 8 | 29969836 | 2018 | Molecular insights into paediatric breast fibroepithelial tumours. | Tay TKY et al |
| 9 | 30467240 | 2019 | Recurrent MED12 exon 2 mutations in benign breast fibroepithelial lesions in adolescents and young adults. | Pareja F et al |
| 10 | 32461622 | 2021 | Fibroepithelial lesions revisited: implications for diagnosis and management. | Tan PH et al |
| 11 | 32088208 | 2020 | Juvenile papillomatosis of the breast (Swiss cheese disease) has frequent associations with PIK3CA and/or AKT1 mutations. | Guillet C et al |
| 12 | 33263939 | 2021 | Whole-exome sequencing analysis of juvenile papillomatosis and coexisting breast carcinoma. | D'Alfonso TM et al |
Citation
Paola Dal Cin, PhD ; Rita Alaggio, MD
Pediatric breast tumors
Atlas Genet Cytogenet Oncol Haematol. 2023-05-22
Online version: http://atlasgeneticsoncology.org/solid-tumor/209155/pediatric-breast-tumors
