Publications by authors named "M Ben Rekaya"
Article Synopsis
- - Constitutional mismatch repair deficiency (CMMRD) syndrome is an autosomal recessive disorder linked to mutations in mismatch repair genes, increasing the risk of various cancers, particularly in early life.
- - A case study presents a Tunisian patient with a specific mutation (c.1918C>A) who developed multiple aggressive cancers, surpassing typical age norms and displaying an unusually long survival time despite the severity of his condition.
- - The report emphasizes the difficulties in determining the impact of genetic variants in CMMRD and highlights the diverse clinical presentations of the syndrome.
Key Clinical Message: We report the first case of pathologic complete response (pCR) to neoadjuvant imatinib in a gastric stromal tumor harboring mutations in both exons 11 and 9. The significance of this co-occurrence is unknown and might increase the responsiveness of gastrointestinal stromal tumors (GISTs) to imatinib.
Abstract: pCR of GIST to neoadjuvant imatinib is rare.
Background: The aim of this study was to analyze PIK3CA mutations in exons 9 and 20 in breast cancers (BCs) and their association with clinicopathological characteristics.
Methods: Mutational analysis of PIK3CA exon 9 and 20 was performed by Sanger sequencing in 54 primary BCs of Tunisian women. The associations of PIK3CA mutations with clinicopathological characteristics were analyzed.
Background: Breast cancer (BC) is the most frequent malignancy among women in Tunisia and Algeria. Clinical and pathological characteristics of this cancer among these populations are not widely reported. The aim of the study was to report clinical and pathological characteristics of women's BC in a Tunisian and Algerian series.
View Article and Find Full Text PDFBackground: Xeroderma pigmentosum is an autosomal recessive disease characterized by a high sensitivity to UV radiations. The disease is clinically and genetically heterogeneous, thus making accurate early clinical diagnosis difficult. Although the disease is considered rare worldwide, previous studies have shown that it is more frequent in Maghreb countries.
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