Surveillance Screening in Li-Fraumeni Syndrome: Raising Awareness of False Positives
نویسندگان
چکیده
منابع مشابه
Li-fraumeni syndrome.
Li-Fraumeni syndrome (LFS) is a classic cancer predisposition disorder that is commonly associated with germline mutations of the p53 tumor suppressor gene. Examination of the wide spectrum of adult-onset and childhood cancers and the distribution of p53 mutations has led to a greater understanding of cancer genotype-phenotype correlations. However, the complex LFS phenotype is not readily expl...
متن کاملCancer Screening Recommendations for Individuals with Li-Fraumeni Syndrome.
Li-Fraumeni syndrome (LFS) is an autosomal dominantly inherited condition caused by germline mutations of the TP53 tumor suppressor gene encoding p53, a transcription factor triggered as a protective cellular mechanism against different stressors. Loss of p53 function renders affected individuals highly susceptible to a broad range of solid and hematologic cancers. It has recently become eviden...
متن کاملOrbital rhabdomyosarcoma in Li-Fraumeni syndrome.
trigeminal nerve. The patient subsequently died of a subarachnoid hemorrhage due to an aneurysm caused by Aspergillus infection. Although Aspergillus commonly originates in the lungs, more cases of paranasal sinus aspergillosis are being reported. It is possible that our patient had a paranasal sinus Aspergillus infection that extended into the orbital apex and carotid artery, although imaging ...
متن کاملLi-Fraumeni syndrome: a case report.
INTRODUCTION Li-Fraumeni syndrome (LFS) is a very rare familial disease with the predisposition to the development of malignant tumors, such as osteosarcoma, breast cancer, brain neoplasm, leukemia, and adrenal tumors. Inheritance is autosomal dominant and is caused by heterozygous mutations in the p53 gene. The diagnosis is based on clinical criteria: a person under the age of 45 years sufferi...
متن کاملGermline TP53 mutations and Li-Fraumeni syndrome.
There are now reports of nearly 250 independent germline TP53 (p53) mutations in over 100 publications. Such mutations are typically associated with Li-Fraumeni or Li-Fraumeni-like syndrome, although many have been identified in cohorts of patients with tumors considered to be typical of LFS. In general, the spectrum of mutations that has been detected in the germline reflects that found in tum...
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ژورنال
عنوان ژورنال: Cureus
سال: 2018
ISSN: 2168-8184
DOI: 10.7759/cureus.2527