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The 5-year overall survival rate for stage IV gastric cancer is lower than 10%, despite the development of systemic therapy. Conversion surgery has shown to improve survival outcomes in patients with durable clinical response on chemotherapy. We report a clinical case of a patient, who underwent conversion surgery after pembrolizumab in the third-line setting for stage IV gastric cancer. The patient did not have recurrence for 22 months after conversion surgery.

We present an extremely rare clinical case of a 38-year-old Russian patient with multiple malignant neoplasms of the uterus and colon caused by genetically confirmed two hereditary diseases: Diamond–Blackfan anemia and Lynch syndrome. Molecular genetic research carried out by various methods (NGS, Sanger sequencing, aCGH, and MLPA) revealed a pathogenic nonsense variant in the MSH6 gene: NM_000179.2: c.742C>T, p.(Arg248Ter), as well as a new deletion of the chromosome 15’s locus with the capture of 82,662,932–84,816,747 bp interval, including the complete sequence of the RPS17 gene. The lack of expediency of studying microsatellite instability in endometrial tumors using standard mononucleotide markers NR21, NR24, NR27, BAT25, BAT26 was demonstrated. The estimated prevalence of patients with combination of Diamond–Blackfan anemia and Lynch syndrome in the world is one per 480 million people.