Li-Fraumeni Syndrome with Unusual Synchronous Malignancies: A Case Report
Abstract: Introduction: Li-Fraumeni syndrome (LFS) is a rare autosomal dominant disorder brought on by pathogenic mutations in the TP53 tumor suppressor gene. LFS is characterized by a high lifetime risk of developing various cancers at a relatively young age. Case Presentation: We are presenting a 48-year-old male with a diagnosis of LFS that was confirmed by a genetic test triggered by the patient’s son’s diagnosis of LFS and leukemia. The patient’s main symptoms were abdominal pain and weight loss. The patient was diagnosed with two synchronous primary tumors: first, a metastatic gastric invasive adenocarcinoma that is microsatellite instability (MSI) -high; and second, a low grade (G1) (non-function) well-differentiated pancreatic neuroendocrine tumor. These cancers are not the usual type associated with LFS. After eight cycles of chemo-immunotherapy in the form of FOLFOX-Nivolumab, our radiological assessment showed significant response in the metastatic gastric adenocarcinoma and stable disease in pancreatic neuroendocrine tumor. The patient remains on single agent Nivolumab and has had stable disease for the last 12 months. Conclusion: Gastric cancer and neuroendocrine tumors are not usually associated with LFS. This case illustrates a rare clinical presentation of multiple malignancies in LFS patients.
- Location
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Deutsche Nationalbibliothek Frankfurt am Main
- Extent
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Online-Ressource
- Language
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Englisch
- Bibliographic citation
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Li-Fraumeni Syndrome with Unusual Synchronous Malignancies: A Case Report ; volume:17 ; number:1 ; year:2024 ; pages:49-55 ; extent:7
Case reports in oncology ; 17, Heft 1 (2024), 49-55 (gesamt 7)
- Creator
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Al Mansor, Essa
Adamiak, Anna
Asmis, Timothy
- DOI
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10.1159/000535099
- URN
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urn:nbn:de:101:1-2406270057247.477433406640
- Rights
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Open Access; Der Zugriff auf das Objekt ist unbeschränkt möglich.
- Last update
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14.08.2025, 10:55 AM CEST
Data provider
Deutsche Nationalbibliothek. If you have any questions about the object, please contact the data provider.
Associated
- Al Mansor, Essa
- Adamiak, Anna
- Asmis, Timothy
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Synergistic Toxicities from Multiple Therapies for Synchronous Malignancies
Unusual Synchronous Association of Solid Tumors with Hematological Malignancies in Multiple Primary Cancers: Case Series and Literature Review
Multiple synchronous primary malignancies induced by benzene exposure: a case report
An unusual synchronous ileosigmoid and ileoileal knotting: a case report
Unusual presentation of Lynch Syndrome
Radio-induced malignancies after breast cancer postoperative radiotherapy in patients with Li-Fraumeni syndrome
Synchronous malignancies of the gall bladder and common bile duct: a case report
Synchronous choroid plexus papilloma and Wilms tumor in a girl, disclosing a Li-Fraumeni syndrome
Emanuel syndrome due to unusual pattern
An unusual case of nephrotic syndrome
A Case of Synchronous Malignancy with Novel Missense Mutation in a Child: Is This Li-Fraumeni Syndrome or a Novel Case Masquerading as Li-Fraumeni Syndrome
Synchronous Malignancies: Pathological Analysis of Three Patients, Each with Dual Malignancies
Synergistic Toxicities from Multiple Therapies for Synchronous Malignancies
Unusual Synchronous Association of Solid Tumors with Hematological Malignancies in Multiple Primary Cancers: Case Series and Literature Review
Multiple synchronous primary malignancies induced by benzene exposure: a case report
An unusual synchronous ileosigmoid and ileoileal knotting: a case report
Unusual presentation of Lynch Syndrome
Radio-induced malignancies after breast cancer postoperative radiotherapy in patients with Li-Fraumeni syndrome
Synchronous malignancies of the gall bladder and common bile duct: a case report
Synchronous choroid plexus papilloma and Wilms tumor in a girl, disclosing a Li-Fraumeni syndrome
Emanuel syndrome due to unusual pattern
An unusual case of nephrotic syndrome