Publications by authors named "Martinek P"

Article Synopsis
  • Adenoid cystic carcinomas (AdCC) of salivary gland origin are primarily defined by the presence of specific gene fusions, notably MYB::NFIB and MYBL1::NFIB, with sinonasal AdCC being particularly aggressive and lacking effective treatments.
  • Researchers conducted an extensive analysis of 88 sinonasal AdCC cases using various techniques like NGS and FISH to identify gene fusions and mutations, finding that the majority harbored canonical fusions while some had noncanonical ones, with a few tumors showing no fusions at all.
  • Mutational analysis revealed that about 68% of AdCCs tested (21 out of 31) had mutations in key oncogenes, highlighting potential areas for targeted
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Juxtaglomerular cell tumor (JxGCT) is a rare type of renal neoplasm demonstrating morphologic overlap with some mesenchymal tumors such as glomus tumor (GT) and solitary fibrous tumor (SFT). Its oncogenic drivers remain elusive, and only a few cases have been analyzed with modern molecular techniques. In prior studies, loss of chromosomes 9 and 11 appeared to be recurrent.

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This study provides a comprehensive proteomic and metabolomic analysis of novel anthocyanin- and carotenoid-rich wheat varieties to assess their immunogenicity in the context of Celiac Disease. Using (semi)-quantitative mass spectrometry, the research found that gliadin expression and peptide release, particularly those containing immunostimulatory γ-gliadin epitopes, vary significantly across different wheat varieties. While non-targeted mass spectrometry provided valuable insights, the study acknowledged potential methodological biases, such limitations of ion current intensity as a measure of peptide abundance.

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  • Succinate dehydrogenase-deficient renal cell carcinoma (SDH-deficient RCC) is a rare and aggressive subtype of kidney cancer mostly seen in younger patients, marked by mutations in SDHx genes, especially type B.
  • The tumors have unique histological characteristics, including eosinophilic cells in solid nests or microcysts that can trap normal kidney tubules.
  • In a study of three cases, all tumors showed a lack of SDHB expression and had pathogenic mutations, with two cases confirming the hereditary nature; diagnostic and treatment challenges arise due to overlapping features with other renal tumors.
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Malignant glomus tumors are rare tumors of pericytic origin with a propensity to develop in the upper gastrointestinal tract. Hereby we demonstrate a tumor of a 20-year-old man, who presented with dysphagia and an exophytic esophageal mass. Histologic examination of the resected mass revealed a multinodular tumor in the esophageal wall composed of epithelioid cells showing nesting and monomorphic atypia, staghorn vessels and scanty stroma.

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Integrating multiple data source technologies is essential for organizations to respond to highly dynamic market needs. Although physical data integration systems have been considered to have better query processing systems, they pose higher implementation and maintenance costs. Meanwhile, virtual data integration has become an alternative topic that is increasingly attracting the attention of researchers in the current era of big data.

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Endometrial carcinomas (EC) of no special molecular profile (NSMP) represent the largest molecular category of EC, comprising a mixture of tumors with different histology and molecular profiles. These facts likely point to different tumor biology, clinical outcomes, and targeted therapy responses within this molecular category. The PIK3CA is currently the only targetable kinase oncoprotein directly implicated in EC carcinogenesis.

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Adenoid cystic carcinoma (AdCC) is one of the most common salivary gland malignancies and occurs in all major and minor salivary gland and seromucous gland sites. AdCCs of salivary gland origin have long been categorized as fusion-defined carcinomas owing to the almost consistent presence of fusion genes MYB::NFIB, or less commonly MYBL1::NFIB. We collected a cohort of 95 cases of AdCC, which were largely characterized by canonical fusions MYB::NFIB (49 cases) or MYBL1::NFIB (9 cases).

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The accurate identification of the primary tumor origin in metastatic cancer cases is crucial for guiding treatment decisions and improving patient outcomes. Copy number alterations (CNAs) and copy number variation (CNV) have emerged as valuable genomic markers for predicting the origin of metastases. However, current models that predict cancer type based on CNV or CNA suffer from low AUC values.

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Article Synopsis
  • The PLAG1 gene fusions have been found in some uterine myxoid leiomyosarcomas (M-LMS), but there are cases of PLAG1-rearranged uterine sarcomas that do not resemble M-LMS or show smooth muscle markers.
  • A study involving 11 cases of these sarcomas showed diverse features, with patient ages ranging from 34 to 72 years and tumor sizes between 6.5 to 32 cm.
  • Follow-up data indicated varying outcomes; while some patients showed no disease evidence, others experienced disease progression or died within a few years, and the tumors displayed significant morphological diversity, including unusual characteristics like hyalinized stroma and adipocytic differentiation
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  • Chromophobe renal cell carcinoma (RCC) can display various morphological patterns, but a new subtype resembling upper urothelial tract micropapillary carcinoma (MPC) has been identified, marked by extensive stromal retraction.
  • A study reviewed 12 nephrectomies of MPC-like chromophobe RCC, predominantly affecting older men, with tumors averaging 6.4 cm, and a diverse range of pathological stages.
  • Molecular testing revealed a high prevalence of chromosomal losses and mutations in notable genes, yet follow-up indicated that patients generally showed no evidence of disease, emphasizing the importance of recognizing this variant to prevent misdiagnosis.
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Alterations in kinase genes such as NTRK1/2/3, RET, and BRAF underlie infantile fibrosarcoma (IFS), the emerging entity 'NTRK-rearranged spindle cell neoplasms' included in the latest WHO classification, and a growing set of tumors with overlapping clinical and pathological features. In this study, we conducted a comprehensive clinicopathological and molecular analysis of 22 cases of IFS and other kinase gene-altered spindle cell neoplasms affecting both pediatric and adult patients. Follow-up periods for 16 patients ranged in length from 10 to 130 months (mean 38 months).

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Pigmented wheat varieties (Triticum aestivum spp.) are getting increasingly popular in modern nutrition and thoroughly researched for their functional and nutraceutical value. The colour of these wheat grains is caused by the expression of natural pigments, including carotenoids and anthocyanins, that can be restricted to either the endosperm, pericarp and/or aleurone layers.

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Twelve pigmented wheat genotypes, one tritordeum, and one common wheat were grown in three field experiments under varying nitrogen (N) fertilization rates to investigate the contributions of genotype, environment, and fertilization on the levels of phenolic acids, anthocyanins, carotenoids and antioxidant capacity of the grains. Soluble phenolic acids increased significantly (+16%) in the environment with high soil N content, while bound phenolic acids and anthocyanins decreased (-16 and -57%). N fertilization affected the agronomic and qualitative traits but had limited effects on some bioactive compounds (bound phenolic acids and anthocyanins).

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Cutaneous tumors with melanocytic differentiation represent a broad group of neoplasms of both melanocytic and non-melanocytic origin. Besides traditional members such as clear-cell sarcoma (CCS) and PEComa, the latter group has recently expanded to also include MITF::CREM fusion-associated tumors, but the available data are limited. Herein, we present a third case of this rare neoplasm which occurred in the temporal region in a 1-year-old girl.

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Since the publication of the 2020 World Health Organization classification of soft tissue and bone tumors, the classification of "fibroblastic" tumors has expanded to include a novel subset of tumors characterized by PRRX1::NCOA1/2 gene fusions. These tumors defy conventional classification and are morphologically distinct, characterized by a multi-nodular growth of bland spindle cells suspended in a myxo-collagenous stroma with mild cytologic atypia, "staghorn-like" vessels, and variable perivascular hyalinization. Mitotic activity is rare, and necrosis is not identified.

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The objective of this study was to examine the rheological and fermentation behavior of doughs prepared from five different colored wheat varieties (black AF Zora, yellow KM 111-18, purple AF Jumiko, blue AF Oxana and red Vanessa - chosen as a standard), which contain polyphenolics in the outer layers of grains. Three wholemeal flour fractions (fine, semi-coarse and coarse) were used for each variety. The flour fractions differed in the particle size of the bran, the ash content and thus the phenolic compound content.

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Methylation silencing of certain cellular genes is a sign of carcinogenesis progression and therefore tests that detect methylation could be used in the diagnosis or staging of malignant diseases. In the diagnosis of squamous cell carcinomas of the cervix which are almost 100% caused by long-term infection with highrisk human papillomavirus (HR-HPV), methylation silencing of certain cellular genes is a highly specific marker of advanced dysplastic lesions and appears to result from aberrant activation of the methyltransferase DNMT1 by viral oncoproteins E6 and E7. A methylation test performed on a cervicovaginal cytology specimen allows to increase the diagnostic value of this non-invasive test and to select patients with severe squamous cell lesions for follow-up.

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Twelve L. spp. varieties with pigmented grain, namely one red, six purple, three blue, and two black, were grown in open fields over two consecutive years and screened to investigate their risk to the accumulation of multiple -related mycotoxins.

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Clear cell mesothelioma is uncommon and shows predominance of clear cells with resemblance to clear cell carcinomas. Clinicopathologic and molecular descriptions of clear cell mesothelioma remained limited. In this study, we identified an index patient with clear cell mesothelioma, confirmed by immunohistochemical and ultrastructural studies.

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Article Synopsis
  • HIV-positive men who have sex with men (MSM) in the Czech Republic show high rates of anal HPV infection (96.8%) and lower rates of oral HPV infection (23.6%), with HPV16 being the most common type found in anal samples.
  • The study analyzed samples from 205 HIV-positive MSM using PCR testing and examined correlations between HPV detection and various clinical factors through advanced statistical methods.
  • Findings indicate a significant relationship between multiple anal HPV infections, the presence of vaccine-targeted HPV types, and the risk of abnormalities in anal cytology, highlighting a concerning prevalence of HPV in this population.
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Stencil printing is the most crucial process in reflow soldering for the mass assembly of electronic circuits. This paper investigates different machine learning-based methods to predict the essential process characteristics of stencil printing: the area, thickness, and volume of deposited solder paste. The training dataset was obtained experimentally by varying the printing speed (from 20 to 120 mm/s), the size (area ratio from 0.

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Introduction: This study presents a novel molecular parameter potentially co-defining tumor biology-the total tumor suppressor gene (TSG) count at chromosomal loci harboring genes rearranged in fusion-defined tumors. It belongs to the family of molecular parameters created using a black-box approach.

Method: It is based on a public curated Texas TSG database.

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Background/aim: Gliomas are primary malignancies of the central nervous system (CNS). High-grade gliomas are associated with poor prognosis and modest survival rates despite intensive multimodal treatment strategies. Targeting gene fusions is an emerging therapeutic approach for gliomas that allows application of personalized medicine principles.

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Additive manufacturing (AM) becomes a more and more standard process in different fields of industry. There is still only limited knowledge of the relationship between measured material data and the overall behaviour of directed energy deposition (DED)-processed complex structures. The understanding of the structural performance, including flow curves and local damage properties of additively manufactured parts by DED, becomes increasingly important.

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