Le syndrome de Li Fraumeni: à propos d'un cas familial avec cancers multiples et présentant une mutation germinale du gène p53

Genetic testing for hereditary cancer syndromes in Tunisian patients: Impact on health system

“…In Tunisia, despite the educational, demographic, and behavioral changes that have taken place during the last decades, consanguinity and endogamy rates are still high and may reach 98% in some geographic isolates [12] . This may explain the high rates of autosomal recessive diseases observed in this country [ 24 , 25 ] and may influence the prevalence and frequency of novel and founder mutations associated with autosomal dominant syndromes. In the current study, consanguinity and endogamy have been observed in the two patients carrying the BLM and MUTYH homozygous mutations.…”

Li-Fraumeni Syndrome-related Malignancies Involving the Genitourinary Tract: Review of a Single-institution Experience

“…Landolsi et al report the case of a superficial papillary carcinoma of the bladder in a 31-year-old male patient with 3 first-degree family members affected by cancer at young ages. 12 Five years later, he developed a high-grade pleomorphic sarcoma of the left thigh and died at the age of 38, of pulmonary embolism after having been diagnosed with pancreatic cancer metastatic to the bone and lymph nodes. Sequencing revealed the presence of a germline mutation (codon 1009C>T, protein Arg337Cys, exon 10 of TP53 gene) in both this patient and his nephew who died at the age of 20 from bone sarcoma.…”

“…10 A major drawback to screening is that the identification of a mutation in an asymptomatic individual, in particular in a child or even prenatally, may prove to have low clinical relevance but devastating psychological ramifications. 12 One might argue that until treatments targeting the molecular defects responsible for the onset and progression of LFS-related cancers become available, LFS screening programs should be reserved for specialized academic institutions actively involved in LFS research. At these institutions, consenting adult patients undergoing TP53 mutation screening should be provided with high-quality information and counseling, and made aware of their right to decide whether or not to have the genetic data disclosed to them.…”

Surgery for Li Fraumeni Syndrome

“…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.…”