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Mutational screening of the CDH1 gene is a standard treatment for patients who fulfill Hereditary Diffuse Gastric Cancer (HDGC) testing criteria. In this framework, the classification of variants found in this gene is a crucial step for the clinical management of patients at high risk for HDGC. The aim of our study was to identify CDH1 as well as CTNNA1 mutational profiles predisposing to HDGC in Tunisia. Thirty-four cases were included for this purpose. We performed Sanger sequencing for the entire coding region of both genes and MLPA (Multiplex Ligation Probe Amplification) assays to investigate large rearrangements of the CDH1 gene. As a result, three cases, all with the HDGC inclusion criteria (8.82% of the entire cohort), carried pathogenic and likely pathogenic variants of the CDH1 gene. These variants involve a novel splicing alteration, a missense c.2281G > A detected by Sanger sequencing, and a large rearrangement detected by MLPA. No pathogenic CTNNA1 variants were found. The large rearrangement is clearly pathogenic, implicating a large deletion of two exons. The novel splicing variant creates a cryptic site. The missense variant is a VUS (Variant with Uncertain Significance). With ACMG (American College of Medical Genetics and Genomics) classification and the evidence available, we thus suggest a revision of its status to likely pathogenic. Further functional studies or cosegregation analysis should be performed to confirm its pathogenicity. In addition, molecular exploration will be needed to understand the etiology of the other CDH1- and CTNNA1-negative cases fulfilling the HDGC inclusion criteria.

Mucormycosis is a fungal infection affecting most commonly immunocompromised patients. Hereby, we report two cases: the first one is about a 61‐year‐old female with diabetes who presented with vomiting. The upper gastrointestinal endoscopy showed a budding grayish process which corresponded to an invasive mucormycosis in histology. As laboratory tests showed renal dysfunction, conventional amphotericin B was started at low doses since liposomal form was unavailable in Tunisia. Evolution was marked by a worsening of renal function leading to drug therapy withdrawal. Total gastrectomy was delayed because of a pulmonary embolism and was practiced 2 months later. The patient passed away 10 days after surgery. The second patient was a 59‐year‐old man who presented with vomiting and fast worsening of general state. At admission, he had a septic shock. Explorations revealed an invasive gastric mucormycosis. He died few days after admission. Thus, prompt diagnosis of mucormycosis and rapid initiation of treatment based on amphotericin B and surgical debridement is necessary to improve prognosis.

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