Exome Sequencing: the Search for Mutations Associated with Hereditary Breast and Ovarian Cancers in the Tuvan Ethnic Group (A Pilot Study).

Whole exome sequencing of peripheral blood samples from Tuvan females diagnosed with breast and ovarian cancers (BC/OC) was performed to search for new genes involved in BC/OC pathogenesis. Considering the high cost of whole exome sequencing and study material requirements, 9 samples were selected from 61 genomic DNA samples. A mutation in the LGR4 gene (rs34804482) involved in the tumor-mediated Wnt signaling pathway and a mutation in the BRWD1 gene (rs147211854) involved in chromatin remodeling were identified in BC patients. A mutation in the CITED2 gene (rs77963348) involved in the pathogenesis of primary ovarian insufficiency was identified in a patient with OC and a history of infertility. A mutation in the PDGFRA gene (rs2291591) was identified in two BC/OC patients. LRG4, BRWD1, PDGFRA, and CITED2 germline pathogenic mutations were discovered in Tuvan women diagnosed with BC/OC for the first time.

[Enhanced recovery after lung resection in high-risk patients]. / Kontseptsiya programmy uskorennogo vyzdorovleniya torakal'nykh patsientov vysokogo operatsionnogo riska.

OBJECTIVE: To study the possibilities of the ERAS program and immediate results in high-risk patients undergoing lung resection. MATERIAL AND METHODS: The prospective study included 76 high-risk patients. All patients required lobar resection for various lung diseases. The risk of postoperative complications and mortality was stratified using the Thoracoscore and Thoracic Revised Cardiac Risk Index systems, as well as the American Society of Anesthesiologists Outcome Prediction Scale. At all perioperative stages, we assessed the possibilities for accelerated recovery and postoperative complications using the Thoracic Morbidity and Mortality System. RESULTS: Patients were characterized by multiple comorbidities requiring long-term and individual preoperative correction. This prevented adherence to a single protocol at the outpatient stage. We intraoperatively observed severe adhesive process up to complete obliteration of pleural cavity that complicated the use of minimally invasive technologies. Lung tissue was characterized by emphysematous lesions and reduced elasticity that caused prolonged air release and formation of residual cavities. These features required two pleural drains in 42 (52.3%) cases that increased hospital-stay. Multimodal analgesia and early activation with rehabilitation were optimal elements of ERAS. Various postoperative abnormalities developed in 31 (40.8%) patients, mortality rate was 7.9% (n=6). Minor and serious complications prevailed (21 (27.6%) cases). Their correction was effective and not accompanied by fatal outcomes. Critical complications occurred in 10 (13.1%) patients and caused fatal outcomes in 6 (7.9%) cases. CONCLUSION: ERAS protocol among high-risk patients in thoracic surgery is possible in the form of separate elements included in perioperative support.

[Circular resection of the thoracic trachea for MALT lymphoma in an 81-year-old patient]. / Tsirkulyarnaya rezektsiya grudnogo otdela trakhei pri MALT-limfome u patsientki v vozraste 81 goda.

A rare clinical observation of primary tracheal MALT lymphoma is reported and difficulties of differential diagnosis are discussed. Tracheal neoplasms are rare tumors and characterized by delayed diagnosis after clinical manifestation (tracheal stenosis and associated complications). These tumors often occur an advanced age patients that complicates examination and surgical treatment. High risk is determined by type of surgery, possible postoperative complications and senile age.

[Biphasic (dedifferentiated) osteosarcoma of the lung in the light of current ideas on biphasic tumors]. / Bifaznaia ('dedifferentsirovannaia') osteosarkoma legkogo v svete sovremennykh predstavlenii o bifaznykh opukholiakh.

The paper presents a case of biphasic (dedifferentiated) osteosarcoma arising primarily on the lung, which has not previously encountered in the literature. It provides a detailed description of its clinical, instrumental, and morphological pattern. It also analyzes the literature on the study of primary pulmonary osteosarcoma and extraskeletal osteosarcoma with high-grade transformation. This clinical case is a clear example of classic biphasic sarcoma interpreted in the context of the phenomenon of biphasic tumors. Their most important aspects (terminology, morphology, biological behavior, and a mechanism of dedifferentiation) are highlighted; the key characteristics of biphasic sarcomas are listed.

[Application of GLAD-PCR Assay for Study on DNA Methylation in Regulatory Regions of Some Tumor-Suppressor Genes in Lung Cancer].

Hypermethylation of the gene regulatory regions are common for many cancer diseases. In this work we applied GLAD-PCR assay for identificating of the aberrantly methylated RCGY sites in the regulatory regions of some downregulated genes in tissue samples of lung cancer (LC). This list includes EFEMP1, EPHA5, HOXA5, HOXA9, LHX1, MYF6, NID2, OTX1, PAX9, RARB, RASSF1A, RXRG, SIX6, SKOR1 and TERT genes. The results of DNA samples from 40 cancer and 25 normal lung tissues showed a good diagnostic potential of selected RCGY sites in regulatory regions of MYF6, SIX6, RXRG, LHX1, RASSF1A and TERT genes with relatively high sensitivity (80.0 %) and specificity (88.0 %) of LC detection in tumor DNA.