OBJECTIVE: The main objective of the article is to clearly inform healthcare professionals about the newly implemented molecular classification of endometrial cancer into practice. METHODS: Summary of current knowledge, recommendations and new procedures relating to molecular genetic examination of the tissues of patients with endometrial carcinoma. RESULTS: Endometrial cancer is currently dia-gnosed on the base of histopathological morphology. According to the classical Bokhman division, we distinguish between two relatively wide groups of tumors which are different in pathogenesis: type I - estrogen-dependent tumors, clinically usually indolent, and type II - non-endometroid tumors, clinically aggressive, without dependence on estrogen stimulation. This classification fulfills a didactic purpose and provides easy orientation for epidemiological data, but is not suitable for stratification due to the overlap of clinical, pathological and molecular features. The Cancer Genome Atlas project classifies endometrial tumors into 4 groups based on molecular genetic features. CONCLUSION: Integration of the histopathological findings along with molecular classification appears to be the best approach for evaluating each individual tumor. This will help to achieve the ideal stratification of patients for treatment regimens.

• Klíčová slova
• Endometrial carcinoma, POLE mutation –mismatch repair-deficient tumors, TP53 mutation, The Cancer Genome Atlas project, endometrial (endometrioid) carcinoma, molecular classification, non-specific molecular profile,
• MeSH
• endometroidní karcinom * MeSH
• lidé MeSH
• mutace MeSH
• nádory endometria * genetika   MeSH
• Check Tag
• lidé MeSH
• ženské pohlaví MeSH
• Publikační typ
• časopisecké články MeSH

• MeSH
• fylogeneze * MeSH
• klasifikace metody   MeSH
• Microsporidia klasifikace   cytologie   genetika   MeSH
• zvířata MeSH
• Check Tag
• zvířata MeSH
• Publikační typ
• časopisecké články MeSH
• komentáře MeSH
• srovnávací studie MeSH

In this study, the relationships of the cestode order Bothriocephalidea, parasites of marine and freshwater bony fish, were assessed using multi-gene molecular phylogenetic analyses. The dataset included 59 species, covering approximately 70% of currently recognised genera, a sample of bothriocephalidean biodiversity gathered through an intense 15year effort. The order as currently circumscribed, while monophyletic, includes three non-monophyletic and one monophyletic families. Bothriocephalidae is monophyletic and forms the most derived lineage of the order, comprised of a single freshwater and several marine clades. Biogeographic patterns within the freshwater clade are indicative of past radiations having occurred in Africa and North America. The earliest diverging lineages of the order comprise a paraphyletic Triaenophoridae. The Echinophallidae, consisting nearly exclusively of parasites of pelagic fish, was also resolved as paraphyletic with respect to the Bothriocephalidae. Philobythoides sp., the only representative included from the Philobythiidae, a unique family of parasites of bathypelagic fish, was sister to the genus Eubothrium, the latter constituting one of the lineages of the paraphyletic Triaenophoridae. Due to the weak statistical support for most of the basal nodes of the Triaenophoridae and Echinophallidae, as well as the lack of obvious morphological synapomorphies shared by taxa belonging to the statistically well-supported lineages, the current family-level classification, although mostly non-monophyletic, is provisionally retained, with the exception of the family Philobythiidae, which is recognised as a synonym of the Triaenophoridae. In addition, Schyzocotyle is resurrected to accommodate the invasive Asian fish tapeworm, Schyzocotyle acheilognathi (Yamaguti, 1934) n. comb. (syn. Bothriocephalus acheilognathi Yamaguti, 1934), which is of veterinary importance, and Schyzocotyle nayarensis (Malhotra, 1983) n. comb. (syn. Ptychobothrium nayarensis Malhotra, 1983). The genus is morphologically characterised by a wide, heart-shaped scolex with narrow, deep bothria.

• Klíčová slova
• Asian fish tapeworm, Biogeography, Bothriate, Bothriocephalidea, Schyzocotyle, Tapeworms, cox1, rDNA,
• MeSH
• Cestoda anatomie a histologie   klasifikace   genetika   izolace a purifikace   MeSH
• cestodózy parazitologie   veterinární   MeSH
• fylogeografie * MeSH
• molekulární sekvence - údaje MeSH
• nemoci ryb parazitologie   MeSH
• ryby MeSH
• sekvenční analýza DNA MeSH
• zvířata MeSH
• Check Tag
• zvířata MeSH
• Publikační typ
• časopisecké články MeSH
• práce podpořená grantem MeSH

Endometrial cancer is the most common gynecological cancer and the second most prevalent female malignancy in the developed world. It is typically diagnosed in postmenopausal women, presenting with the characteristic clinical symptom of uterine abnormal bleeding. In the past, only two histological types were considered. However, it has become increasingly evident that endometrial cancer is a clinically heterogeneous disease, and this heterogeneity is closely associated with the diversity of underlying molecular alterations. The Cancer Genome Atlas classification has significantly advanced the diagnosis, risk stratification, and management of endometrial cancer by categorizing it into four molecular subgroups, each characterized by distinct mutational burdens and copy number alterations.

• Klíčová slova
• Hysterectomy, POLE mutation, The Cancer Genome Atlas Research Network, endometrial cancer, mismatch-repair, molecular classification, p53, targeted therapy,
• MeSH
• lidé MeSH
• nádory endometria * klasifikace   genetika   terapie   patologie   diagnóza   MeSH
• Check Tag
• lidé MeSH
• ženské pohlaví MeSH
• Publikační typ
• časopisecké články MeSH
• přehledy MeSH

OBJECTIVE: Management of endometrial cancer is advancing, with accurate staging crucial for guiding treatment decisions. Understanding sentinel lymph node (SLN) involvement rates across molecular subgroups is essential. To evaluate SLN involvement in early-stage (International Federation of Gynecology and Obstetrics 2009 I-II) endometrial cancer, considering molecular subtypes and new European Society of Gynaecological Oncology (ESGO) risk classification. METHODS: The SENECA study retrospectively reviewed data from 2139 women with stage I-II endometrial cancer across 66 centers in 16 countries. Patients underwent surgery with SLN assessment following ESGO guidelines between January 2021 and December 2022. Molecular analysis was performed on pre-operative biopsies or hysterectomy specimens. RESULTS: Among the 2139 patients, the molecular subgroups were as follows: 272 (12.7%) p53 abnormal (p53abn, 1191 (55.7%) non-specific molecular profile (NSMP), 581 (27.2%) mismatch repair deficient (MMRd), 95 (4.4%) POLE mutated (POLE-mut). Tracer diffusion was detected in, at least one side, in 97.2% of the cases; with a bilateral diffusion observed in 82.7% of the cases. By ultrastaging (90.7% of the cases) or one-step nucleic acid amplification (198 (9.3%) of the cases), 205 patients were identified with affected sentinel lymph nodes, representing 9.6% of the sample. Of these, 139 (67.8%) had low-volume metastases (including micrometastases, 42.9%; and isolated tumor cells, 24.9%) while 66 (32.2%) had macrometastases. Significant differences in SLN involvement were observed between molecular subtypes, with p53abn and MMRd groups having the highest rates (12.50% and 12.40%, respectively) compared with NSMP (7.80%) and POLE-mut (6.30%), (p=0.004); (p53abn, OR=1.69 (95% CI 1.11 to 2.56), p=0.014; MMRd, OR=1.67 (95% CI 1.21 to 2.31), p=0.002). Differences were also noted among ESGO risk groups (2.84% for low-risk patients, 6.62% for intermediate-risk patients, 21.63% for high-intermediate risk patients, and 22.51% for high-risk patients; p<0.001). CONCLUSIONS: Our study reveals significant differences in SLN involvement among patients with early-stage endometrial cancer based on molecular subtypes. This underscores the importance of considering molecular characteristics for accurate staging and optimal management decisions.

• Klíčová slova
• Endometrial Neoplasms, Sentinel Lymph Node,
• MeSH
• biopsie sentinelové lymfatické uzliny metody   MeSH
• dospělí MeSH
• lidé středního věku MeSH
• lidé MeSH
• lymfatické metastázy MeSH
• nádory endometria * patologie   genetika   klasifikace   MeSH
• retrospektivní studie MeSH
• senioři nad 80 let MeSH
• senioři MeSH
• sentinelová uzlina patologie   MeSH
• staging nádorů * MeSH
• Check Tag
• dospělí MeSH
• lidé středního věku MeSH
• lidé MeSH
• senioři nad 80 let MeSH
• senioři MeSH
• ženské pohlaví MeSH
• Publikační typ
• časopisecké články MeSH
• multicentrická studie MeSH

BACKGROUND: Medulloblastoma (MB) is the most common malignant tumour of the central nervous system in children. MB is considered to be high risk tumour propensity to metastasize. In the Czech Republic, approximately 10-12 children are affected annually by this tumour. Recent progress in molecular diagnostics helps to refine the diagnosis and estimate clinical prognosis of the disease. Currently, MBs are subclassified into WNT-activated, SHH-activated, group 3, and 4 based on molecular pathways that drive their tumorigenesis. Each subtype differs in its histopathology, clinical features, genomic changes and gene expressions. The aim of our study is to classify patients MBs into four basic molecular groups and compare our results with published data. MATERIAL AND METHODS: In our study we analysed expression profiles using Affymetrix GeneChip Human Gene 1.0. ST Array (Thermo Fisher Scientific, MA, USA). As input material RNA extracted from the fresh frozen tissue was used. Molecular classification based on the method established by P. Northcott in 2011 was performed. RESULTS: From April 2015 to February 2019, 21 patients with MBs were included in our study. Median age of the patients at the time of diagnosis was 6 years, 14 boys and 7 girls were enrolled. Gene expression profiling and molecular classification of MBs was performed. Based on this methodology, we found the most frequently represented subgroup of MB was group 4 (9 patients, 43%), followed by group 3 (5 patients, 24%), SHH-activated MB (4 patients, 19%) and the least represented subgroup was WNT-activated MB (3 patients, 14%). Results of molecular subgroup classification of MBs were successfully correlated with histopathological findings and other molecular-genetic examinations. CONCLUSION: Molecular classification of MBs has been established in our institution allowing better understanding of this heterogeneous disease and helping clinicians in therapeutic planning in affected patients. This work was supported by the Czech Ministry of Health grant No. 16-33209A. All rights reserved. he authors declare they have no potential confl icts of interest concerning drugs, products, or services used in the study. The Editorial Board declares that the manuscript met the ICMJE recommendation for biomedical papers. Submitted: 1. 3. 2019 Accepted: 4. 3. 2019.

• Klíčová slova
• gene expression profiling, medulloblastoma, pediatric oncology, precision medicine,
• MeSH
• dítě MeSH
• genom lidský * MeSH
• lidé MeSH
• meduloblastom klasifikace   genetika   patologie   MeSH
• nádorové biomarkery genetika   MeSH
• nádory mozečku klasifikace   genetika   patologie   MeSH
• prognóza MeSH
• stanovení celkové genové exprese * MeSH
• výpočetní biologie metody   MeSH
• Check Tag
• dítě MeSH
• lidé MeSH
• ženské pohlaví MeSH
• Publikační typ
• časopisecké články MeSH
• Geografické názvy
• Česká republika MeSH
• Názvy látek
• nádorové biomarkery MeSH

Molecular classification of endometrial carcinomas (EC) divides these neoplasms into four distinct subgroups based on their molecular background. Given its clinical significance, genetic examination is becoming integral to the diagnostic process. This study aims to share our experience with the molecular classification of EC using immunohistochemistry (IHC) and next-generation sequencing (NGS). We included all ECs diagnosed at two institutions from 2020 to the present. All cases were prospectively examined by IHC for MMR proteins and p53, followed by NGS using a customized panel covering 18 genes, based on which ECs were classified into four molecular subgroups: POLE mutated, hypermutated (MMR deficient), no specific molecular profile (NSMP), and TP53 mutated. The cohort comprised 270 molecularly classified ECs: 18 (6.6%) POLE mutated, 85 (31.5%) hypermutated, 137 (50.7%) NSMP, and 30 (11.1%) TP53 mutated. Twelve cases (4.4%) were classified as 'multiple classifier' EC. Notably, most of these cases with available follow-up (6/9) behaved aggressively. Within the POLEmut EC group, 3/4 cases had advanced tumors, including one patient who died of the disease. Similarly, in the MMRd/TP53mut group, 3/5 patients with available follow-up had metastatic disease, leading to death of the patient in 1 case. ECs of NSMP showed multiple genetic alterations, with the most common mutations being PTEN (44% within the group of NSMP), followed by PIK3CA (30%), ARID1A (21%), and KRAS (9%). Our findings suggest that combining immunohistochemistry with NGS offers a more reliable classification of ECs, including 'multiple classifier' cases, which, based on our observations, tend to exhibit aggressive behavior. Additionally, our data highlight the complex genetic background of NSMP ECs, which can facilitate further stratification of tumors within this group and potentially help select patients for dedicated clinical trials.

• Klíčová slova
• Endometrial carcinoma, Molecular classification, Multiple classifier, Next-generation sequencing,
• Publikační typ
• časopisecké články MeSH

Zoraptera is a small and predominantly tropical insect order with an unresolved higher classification due to the extremely uniform external body morphology. We, therefore, conducted a multigene molecular phylogeny of extant Zoraptera and critically re-evaluated their morphological characters in order to propose a natural infraordinal classification. We recovered a highly-resolved phylogeny with two main clades representing major evolutionary lineages in Zoraptera, for which we propose family ranks. The two families exhibit striking differences in male genitalia and reproductive strategies. Each family contains two subclades (subfamilies) supported by several morphological synapomorphies including the relative lengths of the basal antennomeres, the number and position of metatibial spurs, and the structure of male genitalia. The newly proposed higher classification of Zoraptera includes the family Zorotypidae stat. revid. with Zorotypinae Silvestri, 1913 (Zorotypus stat. revid., Usazoros Kukalova-Peck and Peck, 1993 stat. restit.) and Spermozorinae subfam. nov. (Spermozoros gen. nov.), and Spriralizoridae fam. nov. with Spiralizorinae subfam. nov. (Spiralizoros gen. nov., Scapulizoros gen. nov., Cordezoros gen. nov., Centrozoros Kukalova-Peck and Peck, 1993, stat. restit., Brazilozoros Kukalova-Peck and Peck, 1993, stat. restit.), and Latinozorinae subfam. nov. (Latinozoros Kukalova-Peck and Peck, 1993, stat. restit.). An identification key and morphological diagnoses for all supraspecific taxa are provided.

• Klíčová slova
• Polyneoptera, angel insects, diversity, evolution, morphology,
• Publikační typ
• časopisecké články MeSH

Primitive neuroectodermal tumors of the central nervous system (CNS-PNETs) are highly aggressive, poorly differentiated embryonal tumors occurring predominantly in young children but also affecting adolescents and adults. Herein, we demonstrate that a significant proportion of institutionally diagnosed CNS-PNETs display molecular profiles indistinguishable from those of various other well-defined CNS tumor entities, facilitating diagnosis and appropriate therapy for patients with these tumors. From the remaining fraction of CNS-PNETs, we identify four new CNS tumor entities, each associated with a recurrent genetic alteration and distinct histopathological and clinical features. These new molecular entities, designated "CNS neuroblastoma with FOXR2 activation (CNS NB-FOXR2)," "CNS Ewing sarcoma family tumor with CIC alteration (CNS EFT-CIC)," "CNS high-grade neuroepithelial tumor with MN1 alteration (CNS HGNET-MN1)," and "CNS high-grade neuroepithelial tumor with BCOR alteration (CNS HGNET-BCOR)," will enable meaningful clinical trials and the development of therapeutic strategies for patients affected by poorly differentiated CNS tumors.

• MeSH
• dítě MeSH
• forkhead transkripční faktory genetika   MeSH
• lidé MeSH
• metylace DNA * MeSH
• molekulární sekvence - údaje MeSH
• nádorové supresorové proteiny genetika   MeSH
• nádory centrálního nervového systému klasifikace   diagnóza   genetika   patologie   MeSH
• neuroektodermové nádory klasifikace   diagnóza   genetika   patologie   MeSH
• protoonkogenní proteiny chemie   genetika   MeSH
• regulace genové exprese u nádorů MeSH
• represorové proteiny chemie   genetika   MeSH
• sekvence aminokyselin MeSH
• signální transdukce MeSH
• stanovení celkové genové exprese MeSH
• trans-aktivátory MeSH
• Check Tag
• dítě MeSH
• lidé MeSH
• Publikační typ
• časopisecké články MeSH
• práce podpořená grantem MeSH
• Research Support, N.I.H., Extramural MeSH
• Názvy látek
• BCOR protein, human MeSH Prohlížeč
• CIC protein, human MeSH Prohlížeč
• forkhead transkripční faktory MeSH
• FOXR2 protein, human MeSH Prohlížeč
• MN1 protein, human MeSH Prohlížeč
• nádorové supresorové proteiny MeSH
• protoonkogenní proteiny MeSH
• represorové proteiny MeSH
• trans-aktivátory MeSH

David P. Mindell assumes that incorporation of the holobionts (evolutionarily stable symbiotic complexes) and hybrids into phylogenetic trees necessarily distorts the hierarchical structure of cladistic classification, and must lead to reformulation of some basic cladistic concepts (BioSystems, 27, 53-62, 1992). He does not regard the Eukarya and Eubacteria as monophyletic taxa, the former being 'polyphyletic', the latter 'paraphyletic'. We attempt to show that the existence of holobionts/hybrids is not a cladistic problem. Cladistics is a systematic methodology, not a system of evolutionary hypotheses; cladograms are statements about distribution of shared characters (synapomorphies) and, consequently, the cladograms are always branching and hierarchically structured. A taxon is monophyletic if it has a single root in the cladogram, not a single ancestor 'in reality'. Cladistic methodology does not provide a clue for distinguishing whether a conflicting distribution of the potential synapomorphies is due to reticulation (e.g., symbiogenesis) or convergent evolution. Consequently, both Eubacteria and Eukarya either are or are not monophyletic taxa if they are or are not determined to be so during cladistic analysis.

• MeSH
• biologická evoluce MeSH
• fylogeneze * MeSH
• hybridizace genetická MeSH
• klasifikace MeSH
• modely genetické MeSH
• symbióza genetika   MeSH
• Publikační typ
• časopisecké články MeSH