A first report of a rare TP53 variant associated with Li-Fraumeni syndrome manifesting as invasive breast cancer and malignant solitary fibrous tumor

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 le...

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Bibliographic Details
Published in:World journal of surgical oncology 2021-08, Vol.19 (1), p.1-254, Article 254
Main Authors: Prejac, Juraj, DediÄ PlavetiÄ, Natalija, Gotovac JerciÄ, Kristina, Borovecki, Fran
Format: Article
Language:English
Subjects:
Age
Biopsy
Brain tumors
Breast cancer
Cancer therapies
Carcinoma
Care and treatment
Case Report
Chemotherapy
Criteria
Development and progression
Diagnosis
Family medical history
Females
Genes
Genetic counseling
Genetic diversity
Genetic screening
Genetic variance
Genetics
Invasive breast cancer
Invasiveness
Leukemia
Li-Fraumeni syndrome
Lymphatic system
Malignancy
Malignant solitary fibrous tumor
Mastectomy
Metastases
Metastasis
Mutation
Nucleotides
Ovarian cancer
p53 Protein
Pathogenicity
Pathogens
Patients
Proteins
Risk factors
Sarcoma
Soft tissues
Splice-site mutation
Toxicity
TP53
Tumor suppressor genes
Tumors
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Summary: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: TP53, Li-Fraumeni syndrome, Invasive breast cancer, Malignant solitary fibrous tumor, Splice-site mutation
ISSN:1477-7819
1477-7819
DOI:10.1186/s12957-021-02370-8