[The significance of C-KIT gene mutations in the diagnosis and prognosis of malignant tumors]. / Znachenie mutatsii gena C-KIT v diagnostike i prognoze techeniya zlokachestvennykh opukholei.

Mutations in the C-KIT gene encoding type III receptor tyrosine kinase that regulates cellular processes, such as differentiation, survival, proliferation, migration, and apoptosis, are found in some neoplasms: gastrointestinal stromal tumor, mastocytosis, melanoma, breast carcinomas, myeloid leukemias, and a number of others. Tumors that exhibit these mutations are sensitive to therapy with tyrosine kinase inhibitors, which makes it necessary to correctly identify the mutation status by C-KIT in order to apply a personalized approach to therapy. This literature review shows that the type and localization of the C-KIT gene mutation are of crucial prognostic value and significance in choosing drugs for antitumor therapy, but traditional diagnostic methods fail to determine accurate mutation characteristics. Routine sequencing techniques focus on identifying the gene mutations associated with specific cellular processes, such as DNA damage and repair. The emergence of next-generation sequencing techniques has solved this problem, making it possible to fully analyze the genome of a malignant neoplasm, with constant screening for new mutations that appear as the tumor develops, affect the prognosis of the disease, and change its sensitivity to the antitumor therapy.

[Whipple's disease: A case of postmortem diagnosis]. / Bolezn' Uippla, sluchai posmertnoi diagnostiki.

The paper describes a case of the postmortem diagnosis of Whipple's disease, a rare bacterial infection, in a patient with multiple organ dysfunction showing intestinal manifestations with massive retroperitoneal lymphadenopathy. Histochemical and electron microscopic methods were used to examine the patient, which showed the morphological changes occurring in the lymph nodes and bowel and the ultrastructural characteristics of Tropheryma whipplei while examining the sections primarily fixed in formalin and embedded in paraffin. The systemic pattern of the disease is depicted.