Publications by authors named "Petr Martinek"

Article Synopsis
  • 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.
View Article and Find Full Text PDF

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.

View Article and Find Full Text PDF

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.

View Article and Find Full Text PDF
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
View Article and Find Full Text PDF
Article Synopsis
  • 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.
View Article and Find Full Text PDF

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).

View Article and Find Full Text PDF

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).

View Article and Find Full Text PDF

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.

View Article and Find Full Text PDF

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.

View Article and Find Full Text PDF

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.

View Article and Find Full Text PDF

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.

View Article and Find Full Text PDF

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.

View Article and Find Full Text PDF

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.

View Article and Find Full Text PDF
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.
View Article and Find Full Text PDF

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.

View Article and Find Full Text PDF

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.

View Article and Find Full Text PDF

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.

View Article and Find Full Text PDF

Placental mesenchymal dysplasia is a rare placental lesion characterized by placentomegaly, vascular abnormalities and formation of cystic structures in the placental parenchyma. It can be associated with various genetic abnormalities, fetal growth restriction or intrauterine fetal demise. Placental mesenchymal dysplasia needs to be distinguished from its main differential diagnosis, partial hydatidiform mole.

View Article and Find Full Text PDF

BAP1-inactivated melanocytic tumor (BIMT) is a group of melanocytic neoplasms with epithelioid cell morphology molecularly characterized by the loss of function of BAP1, a tumor suppressor gene located on chromosome 3p21, and a mutually exclusive mitogenic driver mutation, more commonly BRAF. BIMTs can occur as a sporadic lesion or, less commonly, in the setting of an autosomal dominant cancer susceptibility syndrome caused by a BAP1 germline inactivating mutation. Owing to the frequent identification of remnants of a conventional nevus, BIMTs are currently classified within the group of combined melanocytic nevi.

View Article and Find Full Text PDF

According to the disturbance-succession theory, natural disturbances support biodiversity and are expected to increase the complexity of food-webs in forest ecosystems by opening canopies and creating a heterogeneous environment. However, a limited number of studies have investigated the impact of disturbance by invasive pathogenic species and succession on arthropod predator-prey food-webs in forest ecosystems. Hymenoscyphus fraxineus is a pathogenic fungus of ash trees that is invasive in Europe and causes massive dieback, mainly of the common ash Fraxinus excelsior across its native range.

View Article and Find Full Text PDF

The fusion genes containing neuregulin-1 (NRG1) are newly described potentially actionable oncogenic drivers. Initial clinical trials have shown a positive response to targeted treatment in some cases of NRG1 rearranged lung adenocarcinoma, cholangiocarcinoma, and pancreatic carcinoma. The cost-effective large scale identification of NRG1 rearranged tumors is an open question.

View Article and Find Full Text PDF

Specific alterations involving MAPK genes (MAP3K8 fusions, MAP3K3 fusions) have been recently detected in a subgroup of spitzoid neoplasms that seem to constitute a distinctive clinicopathologic group, occur mostly in younger patients (median age 18 years) and present with atypical histologic features associated with frequent homozygous deletion of CDKN2A, qualifying a high proportion of them as Spitz melanoma (malignant Spitz tumor). Apart from lesions with spitzoid morphology harboring MAP3K8 or MAP3K3 fusion, a single case with MAP2K1 deletion has been identified. The authors report herein 4 melanocytic lesions with a MAP2K1 mutation, all showing similar microscopic appearances, including spitzoid cytology and dysplastic architectural features, resembling so-called SPARK nevus, suggesting that these lesions may represent another distinctive group.

View Article and Find Full Text PDF