Genetické nádorové predispoziční syndromy

MUDr. Viera Bajčiová, CSc.

Onkologie. 2023:17(5):299  

Extremely rare spinal tumor in Li-Fraumeni syndrome

Pavel Tinka, Zdeněk Pavelka, Klára Vejmělková, Marta Ježová

Onkologie. 2023:17(5):304-307 | DOI: 10.36290/xon.2023.056  

The aim of this article is to describe a case of the infrequent spinal adenoma in paediatric patient. This adenoma was resected with inoperable residuum and histology confirmed an extremely rare spinal adrenocortical adenoma. Tumor was was presented by symptoms of spinal compression and endocrinological signs of pseudopubertas praecox. There was not any other lesion found via PET/MRI examination. Tumor was not accidental, patient inherited pathological allele of the gene coding TP53 protein from the father line, where was frequent occurrence of malignancies in early age. Understanding principles of Li-Fraumeni syndrome is crucial to assess the effective...

Transient abnormal myelopoesis and acute leukemia in children with Down syndrome

Danica Zapletalová, Martin Baláž, Hana Bernatíková, Terézia Tureková

Onkologie. 2023:17(5):308-311 | DOI: 10.36290/xon.2023.057  

Down syndrome is one of the best known and most common chromosomal aberrations. The presence of excess genetic material of chromosome 21 causes multiorgan impairment. From an oncological point of view, the predisposition of these individuals to hematological malignancies in childhood is especially important. Trisomy of chromosome 21 itself leads to perturbed hematopoiesis and it is the first step in the development of transient abnormal myelopoesis, a unique clonal disease that occurs only in the presence of trisomy of chromosome 21. It is a preleukemic phase with variable clinical manifestations from a completely asymptomatic course to a life-threatening...

Risks of hemato-oncological diseases in Noonan syndrome

Terézia Tureková, Danica Zapletalová, Hana Bernatíková, Martin Baláž, Klára Drábová

Onkologie. 2023:17(5):312-315 | DOI: 10.36290/xon.2023.058  

Noonan syndrome is a common hereditary condition with a heterogeneous genetic background and great variability in clinical manifestations. In addition to various birth defects and abnormalities, the affected patients have also an increased risk of developing a malignant disease in childhood. In the following case reports, we present two typical hemato-oncological diagnoses associated with Noonan syndrome - transient myeloproliferative disorder and acute lymphoblastic leukemia. Differences in the case history, diagnostic process and the course of treatment led us to search for the genetic basis of the difficulties with the subsequent confirmation of...

Tinnitus - an initial symptom of synchronous occurence of paraganglioma and renal cell carcinoma in a germline mutation of the SDHB gene (PGL4 snydrome)

Martin Štěrba, Viera Bajčiová

Onkologie. 2023:17(5):316-318 | DOI: 10.36290/xon.2023.059  

Tinnitus is described as an unpleasant auditory sensation without an external source, it is a symptom, not a clinical diagnosis. It is a relatively common symptom and it is reported that up to 10% of the world's population suffers from chronic tinnitus, in the Czech Republic about 700,000 patients are complaining of tinnitus. The causes of tinnitus include mechanical damage to the hearing system, infections, neurological, metabolic and psychiatric diseases, hypertension and many others. Etiology of hypertension is especially in children mainly secondary and it is necessary to search for its underlying cause. One of them may be a secretory active tumour...

Hepatoblastoma in three siblings associated with familial adenomatous polyposis

Viera Bajčiová

Onkologie. 2023:17(5):319-322 | DOI: 10.36290/xon.2023.060  

Hepatoblastoma is the most common primary tumour of the liver in children. Genetic predisposition may be one of the causative factors. Approximately 14 % of hepatoblastomas occur as a result of familial adenomatous polyposis. We describe a case report of a family with a genetic predisposition - three out of four children tested positive for FAP, and the three children developed hepatoblastoma at a very early age. The presented family supports genetic screening of children from a FAP-positive family at the age of 6 months to 1 year with subsequent surveillance.

Fixed duration therapy in patients with chronic lymphocytic leukemia

Daniel Lysák

Onkologie. 2023:17(5):323-328 | DOI: 10.36290/xon.2023.061  

The availability of targeted molecules such as anti-apoptotic bcl-2 protein (BCL2i) or Bruton's tyrosine kinase (BTKi) inhibitors has revolutionized the treatment of chronic lymphocytic leukemia (CLL). Clinical studies have demonstrated the efficacy and safety of these molecules in the treatment of both newly diagnosed and relapsing/refractory disease. A number of treatment regimens are available that are based on either continuous long-term BTKi monotherapy or fixed duration treatment combining venetoclax with another drug. Some of the advantages offered by the fixed duration therapy are discussed in the context of deciding on the appropriate therapy...

Current treatment options for BRAF V600E mutant metastatic colorectal cancer

Marián Liberko, Renata Soumarová

Onkologie. 2023:17(5):329-334 | DOI: 10.36290/xon.2023.062  

Metastatic colorectal cancer (mCRC) is a heterogenous disease, in which prognosis of patients depends largely on presence/absence of specific prognostic and predictive markers. BRAF (v-raf murine sarcoma viral oncogene homolog B) V600E mCRC, relatively small subgroup of mCRC, is characterised by high biological aggressiveness and short term survival when compared to other subtypes of mCRC. Review provides an overview about biology of this subtype, treatment options and recent advancements in targeted therapy.

Trends in the treatment of metastatic castration-sensitive prostate cancer

Markéta Dvořáková, Tomáš Büchler

Onkologie. 2023:17(5):335-341 | DOI: 10.36290/xon.2023.063  

There has been significant progress in recent years in the treatment of patients with metastatic castration-sensitive prostate cancer (mCSPC). While for patients with less extensive or less aggressive disease, a combination of androgen deprivation (ADT) and hormonal agents aimed at inhibiting androgen receptor signaling (ARTA) is recommended, for patients in good overall condition with high-volume disease and especially synchronous metastases, the new standard of treatment is intensified initial therapy using a triplet of ADT+ARTA+docetaxel.

Lonsurf plus bevacizumab: A new standard in the third-line treatment of metastatic colorectal carcinoma

Tomáš Svoboda

Onkologie. 2023:17(5):342-345 | DOI: 10.36290/xon.2023.064  

Some patients still in a good performance status are able to undergo more lines of systemic treatment for metastatic colorectal cancer. Chemotherapy regimens based on fluoropyrimidine in combination with oxaliplatin or irinotecan (in highest risk group with both of them) and targeted treatment of antiangiogenic or antiEGFR drugs according to the RAS a BRAF status are long-term the choice of first and second line treatment reflected in all international and our guideline reccommendations. Multikinase inhibitor regorafenib, fluoropyrimidine or in selected population antiEGFR monotherapy can be used in the next third line of treatment today. However,...

Opioid treatment of cancer patients in 2023

Michal Kouba

Onkologie. 2023:17(5):346-352 | DOI: 10.36290/xon.2023.065  

Opioids are the mainstay of treatment for moderate (4-7/10 on a numerical scale) and severe (above 7/10) cancer-related pain. In most patients, they rapidly lead to noticeable and satisfactory relief; however, in a proportion of patients, a thorough search for the optimal regimen is required. As for the doctor, knowledge of this particular drug class, experience, patience, and communicative skills are all required. Based on the current literature, the review article describes the perception of opioid treatment by both professionals and lay people and summarizes ethical considerations. In addition to an overview of available opioids and their antagonists,...

Adjuvant treatment for colorectal cancer

Marián Liberko, Renata Soumarová

Onkologie. 2023:17(5):353-356 | DOI: 10.36290/xon.2023.066  

Adjuvant treatment aims to decrease risk of recurrence and prolong overal survival across malignancies. In stage II colorectal cancer patients, it is important to discuss option for adjuvant treatment with patient, because of limited benefit in general population. On the other hand, adjuvant treatment is long-term standard for patients with stage III disease. In the last few years, there is a trend to individualize treatment based on presence of risk factors. Review summarize up-to-date guidelines for adjuvant treatment in stage II and III colorectal cancer patients.

Cardiovascular side effects of signaling pathway inhibitors in chronic lymphocytic leukemia therapy

Peter Turcsányi, Eva Kriegová, Tomáš Papajík

Onkologie. 2023:17(5):357-362 | DOI: 10.36290/xon.2023.067  

Treatment of chronic lymphocytic leukemia (CLL) is becoming more targeted and effective due to signaling pathway inhibitors. Although many patients achieve excellent treatment responses, targeting the malignant cell is not absolute and a variety of side effects are encountered. With the introduction of the first-generation Bruton's tyrosine kinase inhibitors (BTKi), there has been increasing concern about the risk of cardiovascular (CV) side effects, including atrial fibrillation (AF), hypertension (HTN) and heart failure. With second and third generation BTKi, CV risks are lower, but data are limited by shorter observation. It has been shown that...

Hidradenitis suppurativa: a diagnostic dilemma in the oncologist's office

Barbara Ivanková, Zuzana Baranová, Tomáš Kampe, Janette Baloghová

Onkologie. 2023:17(5):363-368 | DOI: 10.36290/xon.2023.068  

Hidradenitis suppurativa (HS) is a chronic, immune-mediated, inflammatory skin disease characterized by follicular inflammation and occlusion as well as the formation of painful nodules, abscesses, and suppurative fistulas, with a predilection for intertriginous areas. In women, the breast area and submammary space are often affected, with the intermammary area being a rare phenotype of presentation of the disease. HS has a significant impact on the quality of life of patients; therefore, timely establishment of the correct diagnosis and initiation of treatment are crucial to substantially improve the course and prognosis of the disease, as well as...

Metastatic extragonadal choriocarcinoma associated with life - threatening complications in a young patient: a disease remission as a result of an intensive treatment

Martin Gryc, Michal Eid, Štěpán Tuček

Onkologie. 2023:17(5):369-372 | DOI: 10.36290/xon.2023.069  

Extragonadal germ cell tumors are uncommon but often agressive diseases, which require rapid diagnostics and intensive treatment. This group includes also extragonadal choriocarcinoma, known especially in women in pregnancy, but it may occur also in men. We report a case of a young patient with "high-volume" metastatic extragonadal choriocarcinoma. His disease is in remission after an intensive treatment despite live threatening complications.

Management of adverse reactions during treatment of anal cancer

Alžběta Hlodáková, Ondřej Kubeček, Jindřich Kopecký

Onkologie. 2023:17(5):373-378 | DOI: 10.36290/xon.2023.070  

Squamous cell carcinoma of the anus is a rare gastrointestinal tract disease. Due to the early presence of symptoms, which include bleeding, soreness and a feeling of resistance in the anus, this disease is usually diagnosed in its initial stages. The standard treatment consists of a multimodal approach combining radiotherapy and 5-fluorouracil-based chemotherapy with mitomycin or cisplatin. The prognosis is very favorable for most patients with the disease localized only to the anus, yet there are some risks associated with the treatment. This case report describes the management of a wide range of complications, including 5-fluorouracil-associated...