Multiple Primary Cutaneous Melanomas in Li-Fraumeni Syndrome

Curiel‐Lewandrowski, Clara; Speetzen, Larisa S.; Cranmer, Lee D.; Warneke, James; Loescher, Lois J.

doi:10.1001/archdermatol.2010.428

Cited by 41 publications

(33 citation statements)

References 4 publications

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“…Li-Fraumeni syndrome is linked to TP53, and germ line mutations are associated with breast cancer, bone and soft tissue sarcomas, brain tumours and adrenocortical carcinomas 98 99. The inclusion of melanoma in the syndrome has been controversial, however a handful of melanoma cases have been reported, including one patient with a germ line TP53 mutation who presented with multiple primary cutaneous melanomas 100. In contrast, xeroderma pigmentosum is an autosomal recessive condition caused by mutations in one of eight nucleotide excision repair genes, and the DNA repair function they encode is crucial to the cellular response to UVR-induced DNA damage 101.…”

Section: Familial Cancer Syndromes and Melanoma Riskmentioning

confidence: 99%

Melanoma genetics

2015

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Section: Familial Cancer Syndromes and Melanoma Riskmentioning

confidence: 99%

Melanoma genetics

2015

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“…While cases of melanoma, including multiple primary melanomas, have been reported in patients with this syndrome, the association of melanoma with Li–Fraumeni syndrome is controversial. 56 …”

Section: Melanomamentioning

confidence: 99%

Skin cancer risk inBRCA1/2mutation carriers

et al. 2015

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Summary Women with BRCA1/2 mutations have an elevated risk of breast and ovarian cancer. These patients and their clinicians are often concerned about their risk for other cancers, including skin cancer. Research evaluating the association between BRCA1/2 mutations and skin cancer is limited and has produced inconsistent results. Herein, we review the current literature on the risk of melanoma and nonmelanoma skin cancers in BRCA1/2 mutation carriers. No studies have shown a statistically significant risk of melanoma in BRCA1 families. BRCA2 mutations have been linked to melanoma in large breast and ovarian cancer families, though a statistically significant elevated risk was reported in only one study. Five additional studies have shown some association between BRCA2 mutations and melanoma, while four studies did not find any association. With respect to nonmelanoma skin cancers, studies have produced conflicting results. Given the current state of medical knowledge, there is insufficient evidence to warrant increased skin cancer surveillance of patients with a confirmed BRCA1/2 mutation or a family history of a BRCA1/2 mutation, in the absence of standard risk factors. Nonetheless, suspected BRCA1/2 mutation carriers should be counselled about skin cancer risks and may benefit from yearly full skin examinations.

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“…Long term survival is achievable for LFS with multiple primaries and metastatic lesions when surgery is implemented in a multidisciplinary approach (Table 2) [15] [19] [20] [21] [22] [23]. For example, Izawa et al published their experience with one patient who had 9 separate primary malignancies.…”

Section: Discussionmentioning

confidence: 99%

Surgery for Li Fraumeni Syndrome

Langan

Lagisetty

Atay

et al. 2015

American Journal of Clinical Oncology

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Objectives Li Fraumeni syndrome is an autosomal dominant cancer syndrome due to a germline mutation in the p53 tumor suppressor gene. It results in multiple primary neoplasms in children and adults. A common question when faced with a Li Fraumeni patient who develops multiple primary cancers and/or recurrences is what is the proper treatment? Data suggests that ionizing radiation exposure increases the incidence of second malignancies in the Li Fraumeni population. Therefore, how much surgery can a cancer patient tolerate and still derive benefit from it? Methods We describe a representative case of a 54 year old female with Li Fraumeni syndrome with an enlarging adrenocortical hepatic metastasis, a new primary ampullary cancer, and an extensive surgical history. Results We performed a simultaneous pancreaticoduodenectomy and repeat partial hepatectomy. Conclusions We propose that surgery is under utilized in metastatic solid organ familial cancers in general, and argue that an aggressive surgical approach should be considered in a multidisciplinary fashion for patients with Li Fraumeni syndrome and recurrent tumors. However, because of the rarity of this familial cancer there is a paucity of evidence to support this approach therefore a review of the literature is presented.

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Multiple Primary Cutaneous Melanomas in Li-Fraumeni Syndrome

Cited by 41 publications

References 4 publications

Melanoma genetics

Melanoma genetics

Skin cancer risk inBRCA1/2mutation carriers

Surgery for Li Fraumeni Syndrome

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