Cumulative risk of skin cancer in patients with Li-Fraumeni syndrome

Nieuwenburg, S; Adan, Fieke; Ruijs, Mariëlle; Sonke, Gabe S.; Leerdam, Monique E. van; Crijns, Marianne B.

doi:10.1007/s10689-020-00178-1

Cited by 8 publications

(3 citation statements)

References 13 publications

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“…A median age of 41 (25–65) years was reached by 10 patients (14%) who had a total of 19 SC. A person’s lifetime risk of developing SC is 10.4% (95% CI, 4.4–23.5%) at age 40, 25.2% (95% CI, 12.3–47.6%) at age 60, and 44.6% (95% CI, 22.9–73.9%) at age 70, 76 summarized in Table 1 .…”

Section: Risk Factors and Metastasis Risk Of Skin Cancermentioning

confidence: 99%

A Comprehensive Review of Various Therapeutic Strategies for the Management of Skin Cancer

Dachani,

Kaleem,

Mujtaba

et al. 2024

ACS Omega

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Skin cancer (SC) poses a global threat to the healthcare system and is expected to increase significantly over the next two decades if not diagnosed at an early stage. Early diagnosis is crucial for successful treatment, as the disease becomes more challenging to cure as it progresses. However, identifying new drugs, achieving clinical success, and overcoming drug resistance remain significant challenges. To overcome these obstacles and provide effective treatment, it is crucial to understand the causes of skin cancer, how cells grow and divide, factors that affect cell growth, and how drug resistance occurs. In this review, we have explained various therapeutic approaches for SC treatment via ligands, targeted photosensitizers, natural and synthetic drugs for the treatment of SC, an epigenetic approach for management of melanoma, photodynamic therapy, and targeted therapy for BRAFmutated melanoma. This article also provides a detailed summary of the various natural drugs that are effective in managing melanoma and reducing the occurrence of skin cancer at early stages and focuses on the current status and future prospects of various therapies available for the management of skin cancer.

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Section: Risk Factors and Metastasis Risk Of Skin Cancermentioning

confidence: 99%

A Comprehensive Review of Various Therapeutic Strategies for the Management of Skin Cancer

Dachani,

Kaleem,

Mujtaba

et al. 2024

ACS Omega

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“…A retrospective Dutch study based on national registry data included 71 patients diagnosed with different skin cancers from 33 families with LFS; 59% of the subjects with skin cancers and LFS were females; the cumulative risk of skin cancers of these patients depending on age was 10.4% at 40 years, 25.2% at 60 years, and 44.6% at 70 years; the median age at diagnosis of the dermatological malignancies was 41 years, independent of other LFS-related cancers (44). In addition, by the age of 70 years, the cumulative risk for specific cancers was higher than the general population for the same geographic area: 12.6% for melanoma and 34.6% for basal cell carcinoma (44).…”

Section: Melanoma In Patients With Li-fraumeni Syndromementioning

confidence: 99%

Melanoma in patients with Li‑Fraumeni syndrome (Review)

et al. 2021

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Li-Fraumeni syndrome (LFS) is a cancer-prone, autosomal dominant syndrome caused by underlying germline gene mutations of TP53, a tumor-suppressor gene encoding the p53 protein with a major role in apoptosis, DNA repair and cell cycle regulation. Cumulative cancer incidence for LFS patients by the age of 70 years is 80-100%, mostly involving adrenocortical carcinoma, brain tumors, bone and soft tissue sarcomas, leukemia and female breast cancer from the age of 20 years. Dominant negative TP53 variant is correlated with an increased tumorigenesis risk in LFS. Sporadic TP53 mutations are related to almost half of global cancers since p53 in addition to p73 protein represent essential players in anticancer cellular protection. Epidemiological aspects concerning skin cancers, especially malignant melanoma (MM), in LFS are less clear. A low level of statistical evidence demonstrates LFS cases with pediatric MM, multiple MM, spitzoid MM, atypical presentations, mucosal and uveal MM. Retrospective cohorts indicate a higher cumulative risk than the general population by the age of 70 years for MM and basal cell carcinoma. Non-syndromic and syndromic TP53 mutations are a major pathway of metastasis, including MM. In LHS, an important level of awareness involves skin cancers despite not being a part of the typical malignancy-containing picture. Additional data are crucially needed. However, at least one dermatologic control is a step in the multidisciplinary panel of surveillance of these patients; but in cases with benign and pre-malign pigmentations, serial dermatoscopy and full body photography are recommended for early melanoma detection in order to improve the prognosis and to reduce the overall malignancy burden. Contents 1. Introduction 2. Aim of the review 3. Genetic background: TP53 mutations 4. Tumorigenesis in Li-Fraumeni syndrome 5. Melanoma in patients with Li-Fraumeni syndrome 6. Future considerations 7. Conclusions

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“…Melanoma does not belong to the main spectrum of neoplasms found in this syndrome, but the risk of its development is increased. Therefore, prophylaxis should include the analysis of any new skin lesion / nevus by a dermatologist and limitation of exposure to UV radiation [16].…”

Section: Selected Genetic Syndromes With An Increased Risk Of Melanomamentioning

confidence: 99%

Personalised medical management of patients with melanoma (part 1)

Gil

Łaczmańska

Sąsiadek

et al. 2021

Nowotwory. Journal of Oncology

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In recent years, a dynamic increase has been observed in occurrence of melanomas, especially in young and middle-aged patients. This is the reason why curing these patients has become a priority also in the economic context. Melanomas belong to a group of neoplasms of very high genetic heterogeneity. The most common genetic alterations concern two signalling pathways: mitogen-activated pathway (MAPK) and phosphoinositide 3-kinase (PI3K) pathway. Identification of the characteristic molecular changes in the neoplastic tissue allows optimisation and individualisation of the therapy. Thus, it contributes to an increase in successful cancer treatment, reduction of treatment side effects and to improvement of the patients' quality of life. Currently, the standard management of skin melanoma patients involves -along with surgical treatment and classical chemo/radiotherapy which is now less frequently used -also introduction of targeted therapy focused on molecular changes within the tumour tissue as well as immunotherapy which relies on activating the immune system.

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Cumulative risk of skin cancer in patients with Li-Fraumeni syndrome

Cited by 8 publications

References 13 publications

A Comprehensive Review of Various Therapeutic Strategies for the Management of Skin Cancer

A Comprehensive Review of Various Therapeutic Strategies for the Management of Skin Cancer

Melanoma in patients with Li‑Fraumeni syndrome (Review)

Personalised medical management of patients with melanoma (part 1)

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