Patterns of Growth of Tumors in Li-Fraumeni Syndrome by Imaging: A Case Series
Issued Date
2024-01-01
Resource Type
ISSN
10774114
eISSN
15363678
Scopus ID
2-s2.0-85202488875
Pubmed ID
39185882
Journal Title
Journal of Pediatric Hematology/Oncology
Rights Holder(s)
SCOPUS
Bibliographic Citation
Journal of Pediatric Hematology/Oncology (2024)
Suggested Citation
Azma R., Arenos-Abril J., Junhasavasdiku T., Tewattanarat N., Nourmohammad A., Abadeh A., Panwar S., Villani A., Malkin D., Doria A.S. Patterns of Growth of Tumors in Li-Fraumeni Syndrome by Imaging: A Case Series. Journal of Pediatric Hematology/Oncology (2024). doi:10.1097/MPH.0000000000002928 Retrieved from: https://repository.li.mahidol.ac.th/handle/20.500.14594/100961
Title
Patterns of Growth of Tumors in Li-Fraumeni Syndrome by Imaging: A Case Series
Corresponding Author(s)
Other Contributor(s)
Abstract
Although tumors of Li-Fraumeni syndrome (LFS) have a premalignant or dormant phase that could be exploited by early imaging detection, this has been underevaluated in the literature. We present a case series of patients with LFS followed by imaging over time to highlight patterns of growth of tumors and hotspots of missed tumors in this population. Clinical and imaging features were available for 29 tumors of 24 carriers of a germline TP53 pathogenic variant, developed between 1999 and 2023 were retrospectively reviewed in a single tertiary pediatric center. Imaging characteristics of tumors were evaluated with MRI, CT, and radiographs. Local invasion, time interval for developing primary cancer, and/or recurrent disease and metastasis, and factors that delayed the tumor diagnosis were assessed. In patients with multiple tumors the median time intervals for development of first, second, and third primary cancers were 45.9, 79.8, and 28.1 months, respectively. Hotspots of missed tumors included superficial soft tissues, areas close to bones, on the scalp, in tissues around the adrenal region and in small hypodense lesions on brain CT. In conclusion, the pattern of growth of tumors is variable and erratic in LFS patients with some tumors presenting with a dormant pattern.