Síndrome de Li-Fraumeni

Insuasty, Jesús; Apraez, Valeria Ortega; Arias-Quiroz, Eduardo Javier; Alarcón-Tarazona, Martha Liliana; Calderón-Cortés, Carlos Alberto

doi:10.36104/amc.2022.2198

Cited by 2 publications

(1 citation statement)

References 7 publications

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“…Similarly, Li–Fraumeni syndrome, which is associated with inherited mutations in p53, is associated with an increased risk of developing osteosarcomas [ 9 ]. It is important that the diagnostic criteria for the Li–Fraumeni syndrome include osteosarcoma and other soft tissue sarcomas as the main tumours in this genetic disease [ 10 ]. There are other less common hereditary conditions, such as Rothmund–Thomson syndrome, which is associated with various dermatological and ophthalmological alterations and a risk of approximately 30% of presenting with osteosarcoma [ 11 ].…”

Section: Introductionmentioning

confidence: 99%

Towards the Search for Potential Biomarkers in Osteosarcoma: State-of-the-Art and Translational Expectations

Pekarek

Torre-Escuredo

Fraile-Martínez

et al. 2022

IJMS

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Osteosarcoma represents a rare cause of cancer in the general population, accounting for <1% of malignant neoplasms globally. Nonetheless, it represents the main cause of malignant bone neoplasm in children, adolescents and young adults under 20 years of age. It also presents another peak of incidence in people over 50 years of age and is associated with rheumatic diseases. Numerous environmental risk factors, such as bone diseases, genetics and a history of previous neoplasms, have been widely described in the literature, which allows monitoring a certain group of patients. Diagnosis requires numerous imaging tests that make it possible to stratify both the local involvement of the disease and its distant spread, which ominously determines the prognosis. Thanks to various clinical trials, the usefulness of different chemotherapy regimens, radiotherapy and surgical techniques with radical intent has now been demonstrated; these represent improvements in both prognosis and therapeutic approaches. Osteosarcoma patients should be evaluated in reference centres by multidisciplinary committees with extensive experience in proper management. Although numerous genetic and rheumatological diseases and risk factors have been described, the use of serological, genetic or other biomarkers has been limited in clinical practice compared to other neoplasms. This limits both the initial follow-up of these patients and screening in populations at risk. In addition, we cannot forget that the diagnosis is mainly based on the direct biopsy of the lesion and imaging tests, which illustrates the need to study new diagnostic alternatives. Therefore, the purpose of this study is to review the natural history of the disease and describe the main biomarkers, explaining their clinical uses, prognosis and limitations.

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Section: Introductionmentioning

confidence: 99%

Towards the Search for Potential Biomarkers in Osteosarcoma: State-of-the-Art and Translational Expectations

Pekarek

Torre-Escuredo

Fraile-Martínez

et al. 2022

IJMS

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Diagnostic challenges from conflicting results of tests and imaging

2024

World J Clin Cases

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Accurate diagnosis is the foundation of clinical care but accurate diagnosis is not easily reached in some cases. In rare instances, even a sophisticated multidisciplinary team at an academic medical center cannot reliably reach an accurate diagnosis after extensive testing and imaging, and has to wait until histological diagnosis or even autopsy results are available. The underlying reason of challenging diagnoses is mostly conflicting data from history, tests, and imaging that point to different diagnoses. In this issue of World Journal of Clinical Cases , Huffaker et al reported such a challenging case of a tricuspid mass in a patient with Li-Fraumeni syndrome. The case by Huffaker et al powerfully illustrates the occasional diagnostic challenges inherent in our current diagnostic approach and the current technology. Clinicians should realize that in rare situations, agnosticism in diagnosis is unavoidable but a treatment has to be initiated so long as the principle of primum non nocere is upheld.

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Síndrome de Li-Fraumeni

Cited by 2 publications

References 7 publications

Towards the Search for Potential Biomarkers in Osteosarcoma: State-of-the-Art and Translational Expectations

Towards the Search for Potential Biomarkers in Osteosarcoma: State-of-the-Art and Translational Expectations

Diagnostic challenges from conflicting results of tests and imaging

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