Li-Fraumeni syndrome: A case report
Introduction. Li-Fraumeni syndrome (LFS) is a hereditary familial predisposition to a wide range of certain, often rare malignant diseases. Patients also have an increased risk of developing secondary and even tertiary malignancies throughout their lifetime. The most common malignancies are soft-tis...
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Ministry of Defence of the Republic of Serbia, University of Defence, Belgrade
2023-01-01
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| Series: | Vojnosanitetski Pregled |
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| Online Access: | https://doiserbia.nb.rs/img/doi/0042-8450/2023/0042-84502200036S.pdf |
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| author | Šarac Sanja Krsmanović Željko Milić Rade Radević Tatjana Lazović-Popović Biljana Vasiljević Mira Šarac Momir |
| author_facet | Šarac Sanja Krsmanović Željko Milić Rade Radević Tatjana Lazović-Popović Biljana Vasiljević Mira Šarac Momir |
| author_sort | Šarac Sanja |
| collection | DOAJ |
| description | Introduction. Li-Fraumeni syndrome (LFS) is a hereditary familial predisposition to a wide range of certain, often rare malignant diseases. Patients also have an increased risk of developing secondary and even tertiary malignancies throughout their lifetime. The most common malignancies are soft-tissue and bone sarcomas, breast cancer, brain tumors, adrenocortical carcinoma, and acute leukemia. The syndrome is inherited as an autosomal dominant disorder. In most families with LFS, germline mutations of the tumor protein have been identified on the TP53 gene. To our knowledge, this is the second case report of LFS that has been reported in our country so far. Case report. We present five members of the same family with malignant diseases typical for LFS. A woman at the age of 21 had recurrent astrocytoma and mediastinal liposarcoma. Her older sister had rhabdomyosarcoma and liver cancer and died at the age of 18. The mother of their father was diagnosed with breast cancer at the age of 45, and she died at the age of 52. The father’s sister had osteosarcoma and died before the age of 40. The father was diagnosed with lung adenocarcinoma at the age of 49, two years after the death of his second daughter. Genetic analysis identified a pathogenic, heterozygous germline mutation of the TP53 gene. He also has a third, 8-year-old daughter for whom he denied testing for LFS. Conclusion. Genetic analysis for LFS of all family members is required in patients with rare and multiple malignancies but also frequent and early onset malignancies in the family. Screening for the detection of early cancer manifestation is the key to prolonged survival in people with LFS. |
| format | Article |
| id | doaj-art-fa17a636a04e4ed1b0faf05c284cbfc1 |
| institution | OA Journals |
| issn | 0042-8450 2406-0720 |
| language | English |
| publishDate | 2023-01-01 |
| publisher | Ministry of Defence of the Republic of Serbia, University of Defence, Belgrade |
| record_format | Article |
| series | Vojnosanitetski Pregled |
| spelling | doaj-art-fa17a636a04e4ed1b0faf05c284cbfc12025-08-20T02:04:34ZengMinistry of Defence of the Republic of Serbia, University of Defence, BelgradeVojnosanitetski Pregled0042-84502406-07202023-01-0180436236710.2298/VSP211102036S0042-84502200036SLi-Fraumeni syndrome: A case reportŠarac Sanja0Krsmanović Željko1https://orcid.org/0000-0003-1519-9000Milić Rade2Radević Tatjana3https://orcid.org/0000-0001-9259-3031Lazović-Popović Biljana4Vasiljević Mira5Šarac Momir6https://orcid.org/0000-0002-1808-3479Military Medical Academy, Clinic for Pulmonology, Belgrade, Serbia + University of Defence, Faculty of Medicine of the Military Medical Academy, Belgrade, SerbiaMilitary Medical Academy, Clinic for Neurology, Belgrade, SerbiaMilitary Medical Academy, Clinic for Pulmonology, Belgrade, Serbia + University of Defence, Faculty of Medicine of the Military Medical Academy, Belgrade, SerbiaUniversity of Defence, Faculty of Medicine of the Military Medical Academy, Belgrade, Serbia + Military Medical Academy, Clinic for Dermatology and Venereology, Belgrade, SerbiaUniversity Clinical Hospital Center “Zemun”, Belgrade, SerbiaMilitary Medical Academy, Clinic for Pulmonology, Belgrade, SerbiaUniversity of Defence, Faculty of Medicine of the Military Medical Academy, Belgrade, Serbia + Military Medical Academy, Clinic for Vascular and Endovascular Surgery, Belgrade, SerbiaIntroduction. Li-Fraumeni syndrome (LFS) is a hereditary familial predisposition to a wide range of certain, often rare malignant diseases. Patients also have an increased risk of developing secondary and even tertiary malignancies throughout their lifetime. The most common malignancies are soft-tissue and bone sarcomas, breast cancer, brain tumors, adrenocortical carcinoma, and acute leukemia. The syndrome is inherited as an autosomal dominant disorder. In most families with LFS, germline mutations of the tumor protein have been identified on the TP53 gene. To our knowledge, this is the second case report of LFS that has been reported in our country so far. Case report. We present five members of the same family with malignant diseases typical for LFS. A woman at the age of 21 had recurrent astrocytoma and mediastinal liposarcoma. Her older sister had rhabdomyosarcoma and liver cancer and died at the age of 18. The mother of their father was diagnosed with breast cancer at the age of 45, and she died at the age of 52. The father’s sister had osteosarcoma and died before the age of 40. The father was diagnosed with lung adenocarcinoma at the age of 49, two years after the death of his second daughter. Genetic analysis identified a pathogenic, heterozygous germline mutation of the TP53 gene. He also has a third, 8-year-old daughter for whom he denied testing for LFS. Conclusion. Genetic analysis for LFS of all family members is required in patients with rare and multiple malignancies but also frequent and early onset malignancies in the family. Screening for the detection of early cancer manifestation is the key to prolonged survival in people with LFS.https://doiserbia.nb.rs/img/doi/0042-8450/2023/0042-84502200036S.pdfdiagnosisfamilygenetic diseases, inbornli-fraumeni syndromemutationserbia |
| spellingShingle | Šarac Sanja Krsmanović Željko Milić Rade Radević Tatjana Lazović-Popović Biljana Vasiljević Mira Šarac Momir Li-Fraumeni syndrome: A case report Vojnosanitetski Pregled diagnosis family genetic diseases, inborn li-fraumeni syndrome mutation serbia |
| title | Li-Fraumeni syndrome: A case report |
| title_full | Li-Fraumeni syndrome: A case report |
| title_fullStr | Li-Fraumeni syndrome: A case report |
| title_full_unstemmed | Li-Fraumeni syndrome: A case report |
| title_short | Li-Fraumeni syndrome: A case report |
| title_sort | li fraumeni syndrome a case report |
| topic | diagnosis family genetic diseases, inborn li-fraumeni syndrome mutation serbia |
| url | https://doiserbia.nb.rs/img/doi/0042-8450/2023/0042-84502200036S.pdf |
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