[Intraosseous cavernous hemangioma of the middle turbinate. Clinical cases]. / Vnutrikostnaya kavernoznaya gemangioma srednei nosovoi rakoviny. Klinicheskie sluchai.

Intraosseous vascular pathology of the turbinates is extremely rare in the practice of an otorhinolaryngologist and can be presented in various histopathological variants. The article presents two clinical cases in which an intraosseous cavernous hemangioma was hidden under the mask of a hypertrophied middle turbinate. The final diagnosis was established by the results of histological examination. The analysis of these clinical cases indicates that, despite the low prevalence, atypical clinical and CT picture, intraosseous formations of the nasal cavity can be of a vascular nature and certainly require a comprehensive examination, including CT, CT with contrast and/or MRI of the nose and paranasal sinuses. These clinical observations indicate that preliminary embolization of feeding vessels before surgical treatment is not required.

[The structure of pathogenic germline variants in colorectal cancer in Moscow patients]. / Struktura patogennykh germinal'nykh variantov pri kolorektal'nom rake v vyborke patsientov Moskvy.

OBJECTIVE: Describe the structure of pathogenic germline variants and clinical and anatomical features in colorectal cancer patients in Moscow. MATERIAL AND METHODS: The whole genome sequencing results of patients with suspected hereditary cancer syndrome were evaluated. All identified genetic variants were validated using Sanger sequencing. RESULTS: The study included 238 patients with colorectal cancer, 41/238 (17.2%) patients have pathogenic germline variants associated with hereditary cancer syndromes or increased cancer risk. Lynch syndrome accounts for 8% of all colorectal cancer cases (19/238), and familial adenomatous polyposis - 1.7% (4/238). 5 new genetic variants were described for the first time in a Russian colorectal cancer patients: MLH1 c.1921dup (p.Leu641fs), APC c.2929C>T (p.Gln977Ter), PMS2 c.327del (p.Ala110LeufsTer2), MSH2 c.1857dup (p. Val620CysfsTer24), ATM c.895G>T (p.Glu299Ter). In 197 of 238 patients, no significant variants were identified or variants with an uncertain clinical underlying cause were identified. CONCLUSION: According to the results of the study, an earlier manifestation of a malignant neoplasm and a more frequent occurrence of high-grade carcinomas in the presence of pathogenic germline mutations were noted compared to the group of patients without clinically significant varianrs, while in the group with identified mutations, the frequency of regional and distant metastasis was not increased.