Arkhiv patologii最新文献

Rhabdomyosarcomas (RMS) are one of the most common types of sarcomas in children and adolescents. The alveolar RMS subgroup is of particular interest because in some cases, the translocation of the PAX3 and FOXO1 genes is combined with an amplification of the corresponding hybrid gene. According to literature data, the frequency of the PAX3::FOXO1 translocation is 70-90% and the PAX7::FOXO1 translocation 10-30%.

Objective: To determine the frequency of variable FOXO1 translocations in the alveolar RMS patient group.

Material and methods: Thirty-two tumor samples were collected and analyzed using a combination of histological, immunohistochemistry (Myogenin, MyoD1), and molecular genetic techniques (fluorescence in situ hybridization (FISH) and real-time polymerase chain reaction (RT-PCR)).

Results: Cytogenetic analysis using the FISH technique with a FOXO1-specific probe identified 26 (81%) samples with rearrangements at the FOXO1 locus and seven (19%) without rearrangements. Real-time PCR identified the translocation partners PAX3 in 58% (15/26) and PAX7 in 42% (11/26) of samples.

Conclusion: Four cytogenetic patterns were observed: classical translocation, translocation with amplification, translocation with deletion, and normal signal distribution. Alveolar rhabdomyosarcomas exhibit genetic heterogeneity and a diversity of cytogenetic profiles. The frequency ratio of PAX3/PAX7::FOXO1 variable transcripts is 1:1. Approximately 20% of cases of alveolar RMS do not have cytogenetic signs of rearrangements of the FOXO1 gene.

The molecular classification of endometrial cancer developed by The Cancer Genome Atlas project (TCGA, 2013) is currently actively used in gynecological oncology. According to it, endometrial carcinoma is divided into four molecular subtypes: POLE-mutated, MMR deficient (dMMR), TP53-aberrant and unspecified. Endometrial cancer samples belonging to the dMMR and POLE-mutant types are characterized by specific genetic profiles reflecting the hyper- and ultramutant phenotypes of the tumor. At the same time POLE-mutated endometrial carcinomas recur rarely and exhibit the excellent prognosis. Here we report the rare case of 65 y.o. female patient with endometrioid carcinoma sharing immunohistochemical and molecular features of TP53-aberrant, MMR deficient and POLE-mutated subtypes.

Objective: An evaluation of podocyte's molecular phenotype alterations in primary focal segmental glomerulosclerosis (pFSGS) and IgA nephropathy (IgAN).

Material and methods: The exploratory study included 14 cases of morphologically confirmed pFSGS, 14 cases of IgAN, and 12 negative controls. The negative controls comprised samples of the unaltered renal cortex obtained during laparoscopic nephrectomy in patients with malignant neoplasms of the kidney and bladder and without proteinuria. A quantitative immunomorphological study of Wilms tumour protein (WT1) expression and mesenchymal markers of podocytes (desmin and vimentin) was conducted on all kidney samples. The co-expression of the aforementioned molecules was analysed using confocal microscopy.

Results: Cases of pFSGS exhibited nephrotic syndrome with proteinuria of 9.3 (3.1-14) g/24 and typical glomerular alterations in light microscopy and ultrastructural analysis. In the IgAN group, proteinuria was less severe (1.2 (0.7-1.6) g/24). The estimated glomerular filtration rate in pFSGS and IgAN was similar (pFSGS: 85 (53-103) ml/min/1.72 m², IgAN: 76 (52-87) ml/min/1.72 m²; p=0.40). In both pFSGS and IgAN, there was a reduction in WT1 expression in podocytes and an increase in vimentin expression when compared to negative controls. Compared to IgAN and controls, pFSGS exhibited a lower prevalence of glomerular WT1 expression and higher expression of desmin, which was predominantly localised in WT1-negative glomerular areas in confocal microscopy. In pFSGS, decreased nuclear expression of WT1 and increased expression of desmin were observed in the parietal epithelium of the glomerular capsule.

Conclusion: Bidirectional alterations in the glomerular expression of WT1 and intermediate filament proteins are apparent in pFSGS and IgAN. These findings are suggestive for the genomic reprogramming of podocytes and the parietal epithelium of the glomerulus as part of the epithelial-mesenchymal transition, determining the structural and functional disorders of these cells, more prominent in pFSGS.

The functional state of the placenta and extraplacental membranes, determined by their morphological characteristics, is of key importance in the implementation of both physiological and complicated pregnancy. Of great practical value for the diagnosis of congenital infections is the morphological study of the placenta, extraplacental membranes and umbilical cord, which allows optimizing the supervision of newborns and preventing the development of severe perinatal complications. This article presents methodological approaches to the morphological study of the placenta, extraplacental membranes and umbilical cord in infectious pathologies of both bacterial (ascending intraamniotic infection) etiology and viral placentitis caused by parvovirus, human immunodeficiency virus, respiratory syncytial virus, viruses of the Herpesviridae family - herpes simplex viruses types 1 and 2, cytomegalovirus and Epstein - Barr virus) and SARS-CoV-2 with a description of the morphological features of typical changes and immunohistochemical verification of their etiology.

A literature search was conducted to review papers on the results of studies of clear cell renal cancer (CCRC) vascularization. Numerous data on the relationship between tumor pathogenesis and its vascularization have been revealed, which indicates the multifactorial nature of CCRC development and the significant role of angiogenesis in this process. It should be taken into account that patients with CCRC may have impaired vessel formation even before tumor development. To evaluate normal and pathologic angiogenesis, a pathohistologic study using immunohistochemistry is certainly necessary. Due to the significant role of angiogenesis in the development and course of CCRC, the use of drugs that suppress the formation of the vascular network in the tumor is relevant and advisable. To date, many drugs have been developed and introduced into clinical practice to inhibit angiogenesis. However, such drugs have not lived up to the expectations placed due to the frequent and rapidly developing drug resistance. Timely detection of pre-tumor and tumor processes, as well as effective treatment of cancer, including CCRC, is possible only with close cooperation between pathomorphologists and oncologists.

Alveolar proteinosis is a rare lung disease characterized by the accumulation of protein-lipid complexes in the alveoli due to impaired surfactant utilization by alveolar macrophages. The frequency is from 2 to 4 cases per 1 million adult population. We present an observation of pulmonary alveolar proteinosis in a patient with a history of coronavirus pneumonia.

Ivan Mikhailovich Sechenov is a Russian physiologist, a natural scientist, and the creator of the Russian physiological school. The classic work «Reflexes of the Brain», published in 1863, became revolutionary in its own way for medicine and society, since the reflex nature of conscious and unconscious activity was proved. Along with numerous well-known scientific works, there is an early student publication in the Moscow Medical Journal published by A. I. Polunin. It describes the medical history of a patient with a tumor who was unsuccessfully treated for a long time in accordance with the humoral theory of pathology. This publication makes it possible to understand why I. M. Sechenov became disillusioned with practical medicine, but found his vocation in the study of physiology. The article is devoted to the 195th anniversary of the birth of I. M. Sechenov.

Primary pulmonary myxoid sarcoma with EWSR1-CREB1 fusion is an extremely rare tumor. Its clinical manifestation is unspecific and only molecular genetic method can proof this diagnosis. This paper describes an unusual clinical presentation of primary pulmonary myxoid sarcoma in a 68-year-old patient with involvement of both lungs.

Surgical options for organ-preserving operations on the cervix (conization and contour-loop excision (C-LETZ)) regarding squamous intraepithelial lesions, morphological features of the cervix after surgery are determined, which are significant for HPV persistence and reproductive function.

Objective: To evaluate the results of a lifetime pathoanatomic examination of the surgical material of cervical conization with diathermy loops of various shapes and sizes - a triangular loop and a wavy C-LETZ loop.

Material and methods: The study included 49 patients with a clinical diagnosis of high-severity squamous intraepithelial lesion (HSIL), established by the results of a cytological smear examination or a previous histological examination of a cervical biopsy at the Moscow Regional Research Institute of Obstetrics and Gynecology named after Academician V.I. Krasnopolsky from 2016 to 2023. Histological examination of resected cervical cones (n=32) and wavy C-LETZ cones (n=17) was performed.

Results: At a cone height of less than 1.5 cm, both edges of the resection enter the section. With a higher cone height - 1.5-2cm - the endocervical edge of the resection can be examined by cutting and labeling it in a separate cassette. Undulating C-LETZ conization ensures excision of the crypts of the endocervix to a depth of 0.5 cm not only throughout, but also in the endocervical edge of the excision.

Conclusion: The analysis of the results of a lifetime pathoanatomic examination of the surgical material of conization with a triangular loop and a wavy C-LETZ loop showed the advantages and disadvantages of each of the studied variants of organ-preserving surgery. The advantage of wavy C-LETZ conization is the deep excision of the crypts of the endocervix throughout the cone, including the endocervical edge of conization.

Objective: To study the features of protein expression of gene NDRG1 in primary breast cancer (BC) and to identify its relationship with regional metastasis.

Material and methods: The study included 358 cases of primary BC stages I-III without neoadjuvant chemotherapy with an assessment of a number of clinical, morphological and immunohistochemical parameters of the tumor, including NDRG1 protein expression status and its expression level.

Results: In two study groups with and without metastatic lymph node involvement, a statistically significant relationship was found between NDRG1 expression and histological type of BC, tumor grade, estrogen receptors expression, progesterone receptors expression, HER2 status and index Ki-67 (tumor cell proliferative activity). No statistically significant relationship was found between NDRG1 expression and patient age, tumor node size, and multifocality in two study groups with and without metastatic lymph node involvement.

Conclusion: NDRG1 protein expression is statistically significantly associated with regional metastasis of breast cancer (p=0.015). The differences were due to a higher frequency of cases with NDRG1 positive versus negative status in the group of breast cancer with lymph node metastases.