Evidence map›Paper›PMID 35246108›Full record

ArticleBMC medical genomics2022

Li-Fraumeni syndrome in Tunisian carriers with different and rare tumor phenotype: genotype-phenotype correlation.

Hela Sassi, Rym Meddeb, Mohamed Aziz Cherif, Chiraz Nasr, Aouatef Riahi, Samia Hannachi, Neila Belguith, Ridha M'rad

Open access · goldAbstract readCase Reports
PubMed Full text at PMC Publisher
In one paragraph

Article in BMC medical genomics, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 3 papers.

0numbers the graph read from it
0cells of the map it votes in
3citing papers in PubMed
0.5field-weighted citation impact, top 35% of its field
1 · What the graph read from it

What it found

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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

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3 · Its place in the literature

Who cites it

3 citing papers in PubMed, 5 citations in OpenAlex.

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4 · The record

Corrections and comments

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5 · Who and what money

Authors and funding

8 authors at 4 institutions in 1 country.

Hela Sassi *Department of Congenital and Hereditary Diseases, Charles Nicolle Hospital, University Tunis El Manar, 1006, Tunis, Tunisia. hella.sassi@gmail.com.ORCID 0000-0002-8999-929X
Rym Meddeb *Department of Congenital and Hereditary Diseases, Charles Nicolle Hospital, University Tunis El Manar, 1006, Tunis, Tunisia. meddeb_rym@yahoo.fr.
Mohamed Aziz CherifDepartment of Radiation Oncology, Salah Azaiez Institute, University Tunis El Manar, 1006, Tunis, Tunisia.
Chiraz NasrDepartment of Radiation Oncology, Salah Azaiez Institute, University Tunis El Manar, 1006, Tunis, Tunisia.
Aouatef RiahiInstitute of Applied Biological Sciences of Tunis, University Tunis El Manar, Tunis, Tunisia.
Samia HannachiLaboratory of Pathology Anatomy and Cytology, Tunis, Tunisia.
Neila BelguithDepartment of Congenital and Hereditary Diseases, Charles Nicolle Hospital, University Tunis El Manar, 1006, Tunis, Tunisia.
Ridha M'radDepartment of Congenital and Hereditary Diseases, Charles Nicolle Hospital, University Tunis El Manar, 1006, Tunis, Tunisia.
Hôpital Charles-Nicolle · TNInstitut Salah-Azaïz · TNTunis University · TNTunis El Manar University · TN

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

backgroundLi-Fraumeni syndrome (LFS) is a rare autosomal hereditary predisposition to multiples cancers, mainly affecting young individuals. It is characterized by a broad tumor spectrum. To our best knowledge, only one Tunisian study with a confirmed LFS was published.

methodsOur study focused on the clinical, histopathological and genetic results of two patients with rare tumor phenotype and tried to establish genotype-phenotype correlation. The clinical diagnosis was based on Chompret-Bonaiti criteria relative to LFS. Molecular study was assessed using Sanger sequencing of the hotspot germline variants of TP53 gene.

resultsWe report 2 Tunisian families fulfilling the clinical criteria of Chompret-Bonaiti. The tumor phenotype was bilateral breast cancer (BC) in 27-year-old woman and multiple tumors for the second proband, with an onset age of 14, 35 and 36 yo for osteosarcoma, BC and esophageal cancer respectively. Each of them had a rare histological type of breast cancer associated with LFS, phyllode tumor and intralobular carcinoma. Both patients had cancer family history. The molecular study showed deleterious heterozygous germline TP53 variants in each index case: The first had a well-known hotspot missense variation c.742C>T p.(R248W) with a rare histological association, explaining genotype phenotype correlation. The second case had a nonsense variation c.159G>A p.(W53*), rare worldwide, extending the phenotype spectrum in LFS. Immunohistochemistry study in tumor samples confirmed the lack of p53 protein expression.

conclusionsConclusively, germline TP53 testing is primordial in patients with a family history suggestive of LFS for clinical practice avoiding genotoxic treatments and adapting the surveillance. National database in LFS listing clinical and mutational data is important to set, particularly for variants rarely reported worldwide. Experience from different countries must be integrated to harmonize global protocols for cancer surveillance in LFS.

Indexed as

Breast NeoplasmsLi-Fraumeni SyndromeAdultFemaleGenes, p53Genetic Association StudiesGenetic Predisposition to DiseaseGerm-Line MutationHumansPhenotypeTumor Suppressor Protein p53Tumor Suppressor Protein p53Breast cancerGenotype–phenotype correlationIntralobular breast carcinomaLi–Fraumeni syndromeOsteosarcomaPhyllode tumorTP53 germline variants

Identifiers

PMID35246108
PMCPMC8895785
OpenAlexW4214859493

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