Somatic mutations of the KIT gene have been reported in mast cell diseases and gastrointestinal stromal tumours. Recently, they have also been found in mediastinal and testicular germ cell tumours (TGCTs), particularly in cases with bilateral disease. We screened the KIT coding sequence (except exon 1) for germline mutations in 240 pedigrees with two or more cases of TGCT. No germline mutations were found. Exons 10, 11 and 17 of KIT were examined for somatic mutations in 123 TGCT from 93 multiple-case testicular cancer families. Five somatic mutations were identified; four were missense amino-acid substitutions in exon 17 and one was a 12 bp in-frame deletion in exon 11. Two of seven TGCT from cases with bilateral disease carried KIT mutations compared with three out of 116 unilateral cases (P ¼ 0.026). The results indicate that somatic KIT mutations are implicated in the development of a minority of familial as well as sporadic TGCT. They also lend support to the hypothesis that KIT mutations primarily take place during embryogenesis such that primordial germ cells with KIT mutations are distributed to both testes.

Одним из потенциальных биомаркеров для больных метастатическим гормоночувствительным раком предстательной железы (РПЖ) может быть определение экспрессии лиганда белка программируемой клеточной гибели (PD-L1) в опухоли, ассоциированной с неблагоприятными результатами лечения и снижением выживаемости больных раком поджелудочной железы, легкого и другими злокачественными новообразованиями. Цель исследования -оценка прогностической значимости положительного статуса PD-L1(+) опухоли на время до развития кастрационной резистентности (КРРПЖ) у больных метастатическим РПЖ, получающих гормональную андрогендепривационную терапию в 1-й линии системного противоопухолевого лечения.

.

No abstract

No abstract

For patients with an identified germline E-cadherin-1 (CDH1) mutation, prophylactic gastrectomy is the treatment of choice to eliminate the high risk of developing diffuse gastric  cancer. The case report describes a rare case of hereditary diffuse gastric cancer (HDGC)  associated with CDH1 gene mutation, which is reported in the Russian population for the first  time. In 2013, a 28-year- old woman was referred to Clinical Oncogenetics Laboratory with a  family history of gastric cancer. Molecular genetic analysis revealed CDH1 gene mutation. The  lifetime risk of cancer in mutation positive members is more than 80. Histological examination  of gastric biopsy specimens obtained during endoscopy revealed isolated signet ring cells in the  lamina propria. Spleenpreserving D2-lymphodissection and total gastrectomy with Roux-en-Y  reconstruction with a jejunal reservoir formation were performed at the Abdominal Oncology Surgery Department.

Objective: to conduct a systematic literature review of the published studies on retroperitoneal non-organ liposarcomas.Material and Methods. A literature search was performed using Pubmed, Elibrary, COSMIC databases. The data of retrospective and prospective clinical trials were analyzed. Results. The article reviews contemporary data on epidemiology, classification, clinicalmorphological and molecular-genetic characteristics, as well as diagnosis and treatment of retroperitoneal non-organ liposarcomas. Conclusion. Retroperitoneal sarcomas account for about 13 % of all types of soft tissue sarcomas. Liposarcoma is the most common retroperitoneal mesenchymal tumor. Diagnosis and treatment of non-organ retroperitoneal liposarcoma remain challenging due to poor long-term treatment outcomes. As experience is gained with the diagnosis and treatment of retroperitoneal nonorganic liposarcomas, changes occur in the system of understanding the problem that determines the strategy for providing medical care in this category of patients. The article presents modern concept of retroperitoneal non-organ liposarcomas.

Lynch syndrome is the most common cancer-prone syndrome associated with a high risk of colorectal cancer (CRC), neoplasms of the upper gastrointestinal system, the urinary tract, the female reproductive system, brain tumours and others. The only known form of hereditary endometrial cancer is also diagnosed as part of Lynch syndrome. One or more pathogenic germline mutations in one of the mismatch repair (MMR) genes are the cause of Lynch syndrome. Mapping of MMR genes and the discovery of microsatellite instability (MSI) have given rise to the possibility of using these clue characteristics of the pathogenic process for the elaboration of a screening test for Lynch syndrome. Being highly accurate and superior to all previously developed clinical criteria and guidelines, MSI-testing along with the assessment of the expression patterns of MMR proteins by immunohistochemistry has taken the leading role in the early diagnosis of Lynch syndrome. This article focuses on a brief review about the main evolutionary stages of clinical, anamnestic, molecular and genetic criteria for Lynch syndrome together with the results of our own research on the accuracy of the Amsterdam criteria, the Bethesda guidelines and MSI-diagnostics in the determination of the indications for MMR-genotyping in colorectal cancer patients suspected for Lynch syndrome.