prikaz prve stranice dokumenta A first report of a rare TP53 variant associated with Li-Fraumeni syndrome manifesting as invasive breast cancer and malignant solitary fibrous tumor
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Scientific paper - Case study
A first report of a rare TP53 variant associated with Li-Fraumeni syndrome manifesting as invasive breast cancer and malignant solitary fibrous tumor
World Journal of Surgical Oncology, 19 (2021), 1; 254. https://doi.org/10.1186/s12957-021-02370-8
Prejac, Juraj; Dedić Plavetić, Natalija; Gotovac Jerčić, Kristina; Borovečki, Fran

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Prejac, J., Dedić Plavetić, N., Gotovac Jerčić, K. & Borovečki, F. (2021). A first report of a rare TP53 variant associated with Li-Fraumeni syndrome manifesting as invasive breast cancer and malignant solitary fibrous tumor. World Journal of Surgical Oncology, 19. (1). doi: 10.1186/s12957-021-02370-8

Prejac, Juraj, et al. "A first report of a rare TP53 variant associated with Li-Fraumeni syndrome manifesting as invasive breast cancer and malignant solitary fibrous tumor." World Journal of Surgical Oncology, vol. 19, no. 1, 2021. https://doi.org/10.1186/s12957-021-02370-8

Prejac, Juraj, Natalija Dedić Plavetić, Kristina Gotovac Jerčić and Fran Borovečki. "A first report of a rare TP53 variant associated with Li-Fraumeni syndrome manifesting as invasive breast cancer and malignant solitary fibrous tumor." World Journal of Surgical Oncology 19, no. 1 (2021). https://doi.org/10.1186/s12957-021-02370-8

Prejac, J., et al. (2021) 'A first report of a rare TP53 variant associated with Li-Fraumeni syndrome manifesting as invasive breast cancer and malignant solitary fibrous tumor', World Journal of Surgical Oncology, 19(1). doi: 10.1186/s12957-021-02370-8

Prejac J, Dedić Plavetić N, Gotovac Jerčić K, Borovečki F. A first report of a rare TP53 variant associated with Li-Fraumeni syndrome manifesting as invasive breast cancer and malignant solitary fibrous tumor. World Journal of Surgical Oncology [Internet]. 2021 August 27 [cited 2024 November 22];19(1). doi: 10.1186/s12957-021-02370-8

J. Prejac, N. Dedić Plavetić, K. Gotovac Jerčić and F. Borovečki, "A first report of a rare TP53 variant associated with Li-Fraumeni syndrome manifesting as invasive breast cancer and malignant solitary fibrous tumor", World Journal of Surgical Oncology, vol. 19, no. 1, August 2021. [Online]. Available at: https://urn.nsk.hr/urn:nbn:hr:105:880873. [Accessed: 22 November 2024]

Metadata
Title (english)A first report of a rare TP53 variant associated with Li-Fraumeni syndrome manifesting as invasive breast cancer and malignant solitary fibrous tumor
AuthorJuraj Prejac
AuthorNatalija Dedić Plavetić
AuthorKristina Gotovac Jerčić
AuthorFran Borovečki
Author's institutionUniversity of Zagreb
School of Medicine
(Department of Neurology)
Author's institutionUniversity of Zagreb
School of Medicine
(Department of Pathophysiology)
Scientific / art field,
discipline and subdiscipline		BIOMEDICINE AND HEALTHCARE
Clinical Medical Sciences
Neurology
Scientific / art field,
discipline and subdiscipline		BIOMEDICINE AND HEALTHCARE
Clinical Medical Sciences
Pathophysiology
Abstract (english)
Background: Li-Fraumeni is a rare autosomal dominant cancer predisposition syndrome. The basis is a germline mutation of TP53 gene which encodes tumor suppressor protein resulting in early onset of tumors, most often breast cancer, soft tissue sarcomas, brain tumors, adrenocortical carcinomas, and leukemia. ----- Case report: We present a case of a young woman with a positive family history for cancer diagnosed with malignant solitary fibrous tumor and luminal B-like invasive breast cancer. Breast cancer and sarcomas account for the majority of tumors associated with Li-Fraumeni syndrome, yet solitary fibrous tumor is a rare clinical entity with no established guidelines for treatment. Even though both primary tumors were successfully resected, the sarcoma relapsed in the form of lung metastases. The NGS analysis revealed single nucleotide variant (c.1101-1G>A) in TP53 gene, affecting the acceptor splice site at intron 10. Until now, only one case of this genetic variant has been documented with conflicting interpretations of pathogenicity. ----- Conclusions: The knowledge of TP53 mutation status is essential since the management of these patients requires different approach to avoid excessive toxicity due to the risk of developing secondary malignancy. Using the clinical criteria to screen for affected individuals facilitates appropriate early genetic counseling of patients and their families. Following the American College of Medical Genetics criteria, we believe that the reported single nucleotide variant (c.1101-1G>A) in TP53 gene should be considered pathogenic.
Keywords (english)
Languageenglish
Publication typeScientific paper - Case study
Publication statusPublished
Peer reviewPeer review
Publication versionPublished version
Journal titleWorld Journal of Surgical Oncology
Numberingvol. 19, no. 1, 254
e-ISSN1477-7819
DOIhttps://doi.org/10.1186/s12957-021-02370-8
URN:NBNurn:nbn:hr:105:880873
Publication2021-08-27
Document URLhttps://wjso.biomedcentral.com/articles/10.1186/s12957-021-02370-8
Type of resourceText
Access conditionsOpen access
Terms of useLicence Attribution 4.0 International (CC BY 4.0) icon
Created on2022-05-10 07:13:43