Onkologie. 2023:17(5):304-307 | DOI: 10.36290/xon.2023.056

Extremely rare spinal tumor in Li-Fraumeni syndrome

Pavel Tinka^{1, 2}, Zdeněk Pavelka^{1, 2}, Klára Vejmělková^{1, 2}, Marta Ježová³

¹ Klinika dětské onkologie, FN Brno

² Lékařská fakulta, Masarykova univerzita, Brno

³ Ústav patologie, FN Brno

The aim of this article is to describe a case of the infrequent spinal adenoma in paediatric patient. This adenoma was resected with inoperable residuum and histology confirmed an extremely rare spinal adrenocortical adenoma. Tumor was was presented by symptoms of spinal compression and endocrinological signs of pseudopubertas praecox. There was not any other lesion found via PET/MRI examination. Tumor was not accidental, patient inherited pathological allele of the gene coding TP53 protein from the father line, where was frequent occurrence of malignancies in early age. Understanding principles of Li-Fraumeni syndrome is crucial to assess the effective follow-up. In case of future progression with malignant transformation, we plan to use the immunotherapy to target high expression of PD-L1 proved by immunohistochemistry.

Keywords: spinal tumour, Li-Fraumeni syndrome, pseudopubertas praecox, adrenocortical adenoma.

Accepted: November 28, 2023; Published: November 29, 2023  Show citation