In addition to the histological diagnosis, grade and stage, predictive testing plays a crucial role in gastrointestinal tumours today. This is mainly used to identify molecular targets for modern cancer therapy. In esophageal and gastric cancers, HER2 expression and amplification, mismatch repair (MMR) system protein deficiency and PD-L1 expression are tested routinely. In colorectal cancer, it is namely detection of RAS (KRAS and NRAS) and BRAF mutations, as well as the assessment of microsatellite instability; targetable gene fusions are found rarely only. In pancreatic cancer, cases of MMR deficiency, BRCA1/2 mutations and other targetable aberrations can be identified quite rarely. In gallbladder and biliary tract cancers, we are mainly looking for IDH1 and IDH2 mutations, FGFR2 gene fusions and mutations, HER2 amplifications or mutations, as well as mutations of BRAF or BRCA1/2. All results should be discussed within the molecular tumor board.
- Klíčová slova
- Gastrointestinal tumors, driver mutations, immunotherapy, immunotherapy, molecular targeted therapy, next generation sequencing, predictive biomarkers, targeted therapy,
- MeSH
- gastrointestinální nádory * genetika diagnóza MeSH
- lidé MeSH
- nádorové biomarkery genetika MeSH
- Check Tag
- lidé MeSH
- Publikační typ
- časopisecké články MeSH
- přehledy MeSH
- Názvy látek
- nádorové biomarkery MeSH
This article summarises expert discussion on the management of patients with hepatocellular carcinoma (HCC), which took place during the 24th World Gastrointestinal Cancer Congress (WGICC) in Barcelona, July 2022. A multidisciplinary approach is mandatory to ensure an optimal diagnosis and staging of HCC, planning of curative and therapeutic options, including surgical, embolisation, ablative strategies, or systemic therapy. Furthermore, in many patients with HCC, underlying liver cirrhosis represents a challenge and influences the therapeutic options.
- Klíčová slova
- chemoembolisation, hepatocellular carcinoma, immunotherapy, liver transplantation, radioembolisation,
- MeSH
- gastrointestinální nádory * diagnóza terapie MeSH
- hepatocelulární karcinom * diagnóza terapie MeSH
- lidé MeSH
- nádory jater * diagnóza terapie MeSH
- směrnice pro lékařskou praxi jako téma MeSH
- Check Tag
- lidé MeSH
- Publikační typ
- časopisecké články MeSH
- přehledy MeSH
Recently, we have witnessed impressive diagnostic and therapeutic changes for gastrointestinal cancer patients. New challenges brought by the COVID-19 pandemic have led us to re-evaluate our work priorities. Thanks to the commendable resilience of both investigators and patients, however, clinical research never stopped. In addition to conducting cutting-edge research and serving patients' needs, as EORTC Gastrointestinal Tract Cancer Group, we are committed to pursuing educational initiatives beneficial to the entire European oncology community and beyond. In this regard, we have been providing critical discussions of new data from major international meetings. In this article, we discuss results of important selected studies presented at the 2022 ASCO Gastrointestinal Cancer Symposium, putting them in perspectives and highlighting potential implications for routine practice. With the number of in-person attendees and practice-changing/informing trials presented, this meeting represented a milestone in the return to normality as well as in the fight against cancer.
- Klíčová slova
- Clinical trials, Colorectal cancers, Esophago-gastric cancers, Hepato-pancreatico-biliary cancers, Meeting,
- MeSH
- COVID-19 * MeSH
- gastrointestinální nádory * diagnóza genetika terapie MeSH
- lékařská onkologie MeSH
- lidé MeSH
- pandemie MeSH
- Check Tag
- lidé MeSH
- Publikační typ
- časopisecké články MeSH
- práce podpořená grantem MeSH
- přehledy MeSH
We assessed the value of cytokeratin 17 (CK17) expression for the differential diagnosis between primary ovarian mucinous tumors and metastases from the gastrointestinal tract (GIT) and the significance of CK17 expression in a broad spectrum of primary ovarian tumors with respect to their prognosis. The sample set consisted of 554 primary ovarian tumors and 255 GIT tumors. In the primary ovarian tumors, a higher CK17 expression (in > 10% of tumors cells) was present only in 0-11.4% of all tumors (including mucinous tumors, micropapillary serous borderline tumors, clear cell, endometrioid, and high-grade serous carcinomas). The only exception was low-grade serous carcinoma, where higher CK17 expression was present in 24% of cases. Concerning GIT tumors, the higher levels of CK 17 expression (in > 10% of tumor cells) were observed in the upper GIT tumors (68.5% of pancreatic ductal adenocarcinoma, 61.6% of gallbladder adenocarcinoma, and 46% of gastric adenocarcinoma), which differs substantially not only from most of the primary ovarian tumors, but also from colorectal carcinoma (3.7%; p < 0.001). The results of our study suggest that expression of CK17 can potentially be used as an adjunct marker in differential diagnosis between primary ovarian mucinous tumors and metastases from the upper GIT, but not from colorectal carcinoma. However, in GIT tumors, CK17 can be used in the differential diagnosis between adenocarcinomas of the upper and lower GIT. Statistical analysis did not reveal strong association of CK17 expression with clinicopathological variables or patient outcomes in any primary ovarian tumors.
- Klíčová slova
- Cytokeratin 17, Differential diagnosis, Gastrointestinal tract tumors, Ovarian tumors,
- MeSH
- adenokarcinom * diagnóza MeSH
- diferenciální diagnóza MeSH
- gastrointestinální nádory * diagnóza MeSH
- imunohistochemie MeSH
- keratin-17 MeSH
- kolorektální nádory * diagnóza MeSH
- lidé MeSH
- nádorové biomarkery analýza MeSH
- nádory slinivky břišní * diagnóza MeSH
- nádory vaječníků * patologie MeSH
- Check Tag
- lidé MeSH
- ženské pohlaví MeSH
- Publikační typ
- časopisecké články MeSH
- Názvy látek
- keratin-17 MeSH
- nádorové biomarkery MeSH
- Klíčová slova
- GIST, clinical practice guidelines, gastrointestinal stromal tumour, surgery, tyrosine kinase inhibitor,
- MeSH
- gastrointestinální nádory * diagnóza epidemiologie terapie MeSH
- gastrointestinální stromální tumory * diagnóza epidemiologie terapie MeSH
- lidé MeSH
- následné studie MeSH
- sarkom * terapie MeSH
- Check Tag
- lidé MeSH
- Publikační typ
- časopisecké články MeSH
- práce podpořená grantem MeSH
- směrnice pro lékařskou praxi MeSH
Undifferentiated (sarcomatoid) carcinomas may closely mimic gastrointestinal stromal tumors (GISTs) due to possible histological and immunohistochemical overlap between these two entities. To avoid unnecessary employment of a wide spectrum of immunohistochemical stainings and molecular genetics and thus decrease costs, finding simple morphological features to target further investigation of such neoplasms of the gastrointestinal tract would be helpful. Five cases classified as undifferentiated (sarcomatoid) carcinomas with a definite proof of the diagnosis, i. e. the presence of a differentiated carcinomatous component, were retrieved from archives of several institutions. For comparison, 84 cases of GIST mutated in KIT or PDGFRA genes served as the control group. Hematoxylin and eosin stained slides were evaluated for the presence of patterns which might discriminate between sarcomatoid carcinoma and GIST. Lymphatic invasion and entrapment of fat tissue strongly favor the diagnosis of undifferentiated carcinoma, as it was found in all or almost all cases of undifferentiated carcinoma, but in no GIST. Alternation of low- and high- grade areas, formation of angiosarcomatous-like spaces, and the presence of yolk sac-like areas were also detected in all cases of undifferentiated carcinoma, but only in 1.2%, 2.4% and 7.2% of the GISTs, respectively. Furthermore, DOG1 was negative in all cases of undifferentiated carcinoma. According to this study, the presence of the histological findings listed above should prompt extensive tumor sampling in order to find a differentiated carcinomatous component. However, due to the small number of cases of undifferentiated carcinoma available for the study, a larger multi-institutional study is warranted.
- Klíčová slova
- Differential diagnostics, GIST, Gastrointestinal stromal tumor, Sarcomatoid carcinoma, Undifferentiated carcinoma,
- MeSH
- diferenciální diagnóza MeSH
- dospělí MeSH
- gastrointestinální nádory diagnóza patologie MeSH
- gastrointestinální stromální tumory diagnóza patologie MeSH
- karcinom diagnóza patologie MeSH
- lidé středního věku MeSH
- lidé MeSH
- nádorové biomarkery analýza MeSH
- senioři nad 80 let MeSH
- senioři MeSH
- Check Tag
- dospělí MeSH
- lidé středního věku MeSH
- lidé MeSH
- mužské pohlaví MeSH
- senioři nad 80 let MeSH
- senioři MeSH
- ženské pohlaví MeSH
- Publikační typ
- časopisecké články MeSH
- Názvy látek
- nádorové biomarkery MeSH
BACKGROUND: It is estimated that 5-10% of colorectal cancers arise due to a known genetic syndrome. Individuals with these cancer syndromes are also at risk of extracolonic cancers. Polyposis and nonpolyposis hereditary syndromes are generally recognized. Inclusion of next-generation sequencing technology, especially multiple-gene panel testing, in routine laboratory practice has made identifying the causes of these diseases significantly easier. PURPOSE: To summarize current knowledge of the causes, clinical manifestations, diagnostic criteria, and recommendations for presymptomatic screening of individuals at risk of hereditary gastrointestinal polyposis and colorectal cancer syndromes. We dicuss currently defined syndromes detected by multiple-gene panel next-generation sequencing; these include constitutional mismatch repair deficiency (biallelic MLH1, MSH2, MSH6, PMS2 gene mutations), gastric adenocarcinoma and proximal polyposis of the stomach (APC gene), NTHL1-associated polyposis, polymerase proofreading-associated polyposis (POLD1, POLE genes), juvenile polyposis (SMAD4, BMPR1A genes), and serrated polyposis syndromes. Another aim is to summarize recent knowledge about well-known syndromes, including hereditary nonpolyposis colon cancer (Lynch syndrome), familial adenomatous polyposis, MUTYH-associated polyposis, and Peutz-Jeghers and Cowden/PTEN hamartoma tumor syndromes. CONCLUSION: Awareness of hereditary polyposis/colon cancer syndromes enables early diagnosis and prevention of cancer in affected individuals and their relatives. Genetic counseling, presymptomatic testing of at-risk individuals, and efficient screening may be beneficial for affected families. Thank to Lenka Foretová, M.D., PhD, (Masaryk Memorial Cancer Institute, Brno) for a critical review of the manuscript and valuable advices. The author declares she has no potential conflicts 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: 6. 6. 2019.
- Klíčová slova
- colonic polyps, colorectal neoplasms, genes, polyps, secondary prevention, stomach,
- MeSH
- dědičné nádorové syndromy * diagnóza genetika prevence a kontrola MeSH
- gastrointestinální nádory * diagnóza genetika prevence a kontrola MeSH
- genetické testování MeSH
- lidé MeSH
- Check Tag
- lidé MeSH
- Publikační typ
- časopisecké články MeSH
- přehledy MeSH
Gastrointestinal polyposes and Lynch syndrome are a group of heterogenous hereditary tumor syndromes associated with an increased risk of developing colorectal carcinoma and other malignancies. Typical early manifestations of gastrointestinal polyposes include multiple polyps in the gastrointestinal tract. Early recognition of these syndromes enables patients carrying a pathogenic mutation to undergo screening and to instigate precautions to minimize the risk of developing tumors. In some cases, gastrointestinal lesions could be an early indicator of tumor syndrome and histopathologic examination could lead to a recommendation for genetic testing of patients and their families. Supported by Ministry of Health, Czech Republic - Conceptual Development of Research Organization (MMCI, 00209805). The authors declare they have no potential conflicts 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: 16. 4. 2019 Accepted: 6. 6. 2019.
- Klíčová slova
- Lynch syndrome, colorectal carcinoma, gastrointestinal polyposes,
- MeSH
- dědičné nádorové syndromy * diagnóza genetika patologie MeSH
- gastrointestinální nádory * diagnóza genetika patologie MeSH
- lidé MeSH
- mutace MeSH
- Check Tag
- lidé MeSH
- Publikační typ
- časopisecké články MeSH
BACKGROUND: Tumors arising from neuroendocrine cells are defined as epithelial neoplasms with predominantly neuroendocrine differentiation. They comprise a distinct group of tumors with a characteristic histological structure and functional properties that develop at various sites, particularly the gastrointestinal system (67%) and lungs (25%). Although such tumors are usually slow-growing and indolent, almost all have malignant potential and most can produce active hormones. Clinical signs vary, and many are dependent on the site at which the tumor develops. Although these tumors were identified more than 130 years, their classification remains unclear. PURPOSE: This review provides a comprehensive overview of the human neuroendocrine system and its neoplasms, from their discovery to current terminology and classifications. In addition, the clinical symptomatology and macroscopic/microscopic features of tumors arising from endocrine cells of the gastrointestinal tract are described, with an emphasis on their classification, diagnostic criteria for their grading and TNM (tumor, node, metastasis) staging, and how these tumors differ according to their localization in the gastrointestinal tract. CONCLUSION: Tumors arising from neuroendocrine cells are rare and can cause typical symptoms of carcinoid syndrome. However, most of these tumors are asymptomatic, which, together with their typical small size and localization in the gut, makes them difficult to access endoscopically and often leads to diagnosis at an advanced stage. To successfully diagnose and treat tumors arising from neuroendocrine cells, they should be assessed using a differential diagnostic procedure and be histopathologically classified, graded, and staged according to specified criteria and the latest classifications and guidelines. Although the terms "carcinoid", "neuroendocrine tumor", and "neuroendocrine carcinoma" are often used synonymously in the literature and by professionals, more precise terminology is required for nomenclature and classification. Key words: gastrointestinal neuroendocrine neoplasms - neuroendocrine tumors - neuroendocrine carcinomas - classification - NET - NEC The authors declare they have no potential conflicts 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: 21. 3. 2018 Accepted: 16. 4. 2018.
- MeSH
- gastrointestinální nádory klasifikace diagnóza patologie MeSH
- lidé MeSH
- neuroendokrinní nádory klasifikace diagnóza patologie MeSH
- Check Tag
- lidé MeSH
- Publikační typ
- časopisecké články MeSH
- přehledy MeSH
This article deals with a surgical approach to primary gastrointestinal lymphoma - a rare finding when compared to primary gastric carcinoma. The clinical findings, diagnosis and staging of the disease as well as various treatment methods and prognosis of the condition are discussed. As it is evident from the paper, the opinions of individual authors regarding this diagnosis may often differ considerably. Furthermore, this paper presents two separate case studies of surgical treatment for gastric lymphomas performed at our department in 2016. Case study 1 describes a surgical intervention for acute abdomen, where lymphoma was already diagnosed peroperatively. Case study 2 presents the case of a patient indicated for elective laparoscopic cholecystectomy with an unexpected finding of primary gallbladder lymphoma.Key words: primary gastrointestinal lymphoma - chemotherapy - surgical intervention - primary intestinal lymphoma - primary lymphoma of the gallbladder.
- MeSH
- cholecystektomie laparoskopická MeSH
- gastrointestinální nádory * diagnóza chirurgie MeSH
- lidé MeSH
- lymfom * diagnóza chirurgie MeSH
- nádory žlučníku * diagnóza chirurgie MeSH
- Check Tag
- lidé MeSH
- Publikační typ
- časopisecké články MeSH
- kazuistiky MeSH
