Pathologic complete response to neoadjuvant imatinib of a gastric stromal tumor with concomitant mutations in : A case report and literature review.

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.

High frequency of exon 15 deletion in the FANCA gene in Tunisian patients affected with Fanconi anemia disease: implication for diagnosis.

Tunisian population is characterized by its heterogeneous ethnic background and high rate of consanguinity. In consequence, there is an increase in the frequency of recessive genetic disorders including Fanconi anemia (FA). The aim of this study was to confirm the existence of a founder haplotype among FA Tunisian patients and to identify the associated mutation in order to develop a simple tool for FA diagnosis.