Onkologija
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Klinični primer bolnika z razsejanim ploščatoceličnim karcinomom požiralnika
Get PDFThe incidence of oesophageal cancer has not changed in the last years, neither in the world nor in Slovenia. According to the 2012 Cancer Registry of Slovenia, a total of 87 patients were diagnosed with oesophageal cancer in 2009, of which 74 were males and 13 were females. The most common histological type was squamous cell carcinoma; in 2009, there were 60 such patients, while adenocarcinoma, which is the second most common type, was found in 19 patients. Patients with oesophageal cancer have a poor prognosis. A half of these patients have advanced disease already at diagnosis. Median survival with advanced disease is eight to ten months, while 5-year survival is merely 5-17%. When the disease is operable, patients are treated surgically, and if the disease is limited locoregionally, the patients are treated with pre-operative chemoradiotherapy and surgery. However, despite such primary treatment, the disease recurs in approximately 65% of patients in the first five years, either in a form of metastases or as a local recurrence (2, 3, 4, 5, 6). In this article, we present a patient with squamous cell carcinoma of the middle third of the oesophagus which has started to spread to the upper and lower thirds six months after primary treatment and effective first-line systemic treatment.Ni abstrakta
Vloga dermatologa pri zgodnjem odkrivanju in obravnavi bolnika z melanomom
No full textSkin melanoma is one of cancers with the largest annual increase both in the world and Slovenia. Alongside the rapidly increasing incidence, the epidemiological data show stable mortality in the last two decades and a constant share of fatty tumours in male patients aged over 60 years.
Melanoma is a result of a complex interaction between the genotype and environmental factors that also determine the phenotypic characteristics signalling an increased risk of the occurrence of melanoma in one’s life.
The role of a dermatologist is to detect melanoma at early stages of the disease, when it is still difficult to recognise it clinically and melanoma can be mistaken for melanocytic nevi or other skin lesions. Early diagnosis of melanoma is based on new diagnostic methods in dermatology, such as dermoscopy, confocal microscopy and teledermatology, as well as on well-organised work which allows identification and monitoring of individuals with an increased risk for developing melanoma. In thin melanomas, the dermatologist also performs the therapeutic part, namely tumour excision, while in invasive and metastatic forms of the disease, he decides on the patient’s interdisciplinary treatment. Due to an increased risk for the development of a new primary melanoma, management of patients following detection of melanoma also requires lifelong monitoring by the dermatologist. The dermatological associations design and implement primary and secondary prevention programmes aimed at reducing the risk factors and early detection of melanoma, as well as other forms of skin cancer.
New findings confirm the pathogenic diversity of melanoma, which indicates the need to implement changes and individualise measures aimed at primary and secondary prevention of skin melanoma.Kožna oblika melanoma sodi med rakava obolenja z največjim letnim prirastkom tako v svetu kot pri nas. Epidemiološki podatki ob hitro rastoči incidenci nakazujejo stabilno mortaliteto v zadnjih dveh desetletjih in konstantni delež debelih tumorjev za moške nad 60. letom starosti. Melanom je posledica kompleksne prepletenosti genotipa in dejavnikov iz okolja, ki določajo tudi fenotipske značilnosti, ki opozarjajo na povečano tveganje za pojav melanoma v življenju.
Vloga dermatologa je odkrivanje melanoma v zgodnjih stadijih bolezni, ko je klinično težje prepoznaven, zamenljiv z melanocitnimi nevusi ali drugimi lezijami na koži. Zgodnja diagnostika melanoma temelji na poznavanju novih diagnostičnih metod v dermatologiji, kot so dermoskopija, konfokalna mikroskopija in teledermatologija, kot tudi ustrezni organizaciji dela, ki omogoča prepoznavanje ter spremljanje posameznikov z večjim tveganjem za pojav melanoma. Pri tankih melanomih dermatolog opravi tudi terapevtski del, ekscizijo tumorja, medtem ko pri invazivnih in metastatskih oblikah bolezni predvidi interdisciplinarno zdravljenje pacienta.
Zaradi povečanega tveganja za razvoj novega primarnega melanoma je v obravnavi bolnikov po odkritem melanomu določena potreba po doživljenjskem spremljanju s strani dermatologa. Dermatološka zdrużenja oblikujejo in izvajajo programe primarne ter sekundarne preventive, katerih namen je zmanjševanje dejavnikov tveganja in zgodnje odkrivanje melanoma kot tudi drugih oblik kožnega raka.
Nova spoznanja potrjujejo patogenetsko raznolikost melanoma, kar kaže na potrebo po spremembah in individualizaciji ukrepov primarne ter sekundarne preventive kožnega melanoma
Kirurgija raka želodca
Get PDFAlthough the incidence of gastric cancer has been decreasing in the world and in Slovenia, it is still a major cause of cancer mortality. The prognosis is poor, since the disease is often detected at an advanced stage. Treatment results can be improved only by early detection. A multidisciplinary approach is a very important part of treatment, but the main role is still played by surgery. We describe the current principles of surgical treatment: the extent of resection in all three dimensions (on the organ itself, on neighbouring structures and organs or their parts), the extent of lymphadenectomy and the reconstruction methods.Čeprav incidenca raka želodca po svetu in pri nas upada, je še vedno pomemben vzrok umrljivosti zaradi raka. Prognoza je slaba, ker je bolezen odkrita pogosto v napredovalem stadiju. Rezultate zdravljenja je mogoče izboljšati le z zgodnejšim odkrivanjem. V zdravljenju je pomemben multidisciplinarni pristop. Glavno vlogo v zdravljenju ima še vedno kirurgija. Opisana so današnja načela kirurškega zdravljenja: obseg resekcije v vseh treh dimenzijah (na organu samem, sosednjih strukturah oziroma sosednjih organih ali njihovih delih), obseg limfadenektomije in načini rekonstrukcije
Ali imajo tarčna zdravila svoje mesto v radiokemoterapiji tumorjev prebavil?
Get PDFIn the last decade, we have been witnessing a rapid development of the understanding of tumour biology and immunology of gastrointestinal cancers. Simultaneously, there have been great improvements in radiation techniques, which have subsequently improved local disease control by enabling a larger dose on the tumour and reducing toxicity on healthy tissues. However, a high share of the occurrence of distant metastases remains of great concern, since it indicates the need for an even more aggressive multi-modal treatment. The expected benefit of target drugs in non-metastatic gastrointestinal cancers is still subject to clinical research. It is necessary to identify the right population of patients and include them in research, regardless of the histology or localisation of the tumours but based on specific molecular and genetic abnormalities, thus based on their specific genetic profile.V zadnjem desetletju smo priča hitremu napredku v razumevanju tumorske biologije in imunologije rakov prebavil. Sočasno je prišlo do izboljšav v tehnikah obsevanja, zaradi katerih je lokalna kontrola bolezni boljša, saj je lahko doza na tumor večja, toksičnost na zdrava tkiva pa manjša. Skrb zbujajoč pa ostaja visok delež pojava oddaljenih zasevkov, kar nakazuje na potrebo po še agresivnejšem multimodalnem zdravljenju. Pričakovana dobrobit tarčnih zdravil pri nemetastatskih rakih prebavil je še vedno stvar kliničnih raziskav. Nujna je prepoznava prave populacije bolnikov in vključitev v raziskave ne glede na histologijo ali lokalizacijo tumorjev, pač pa glede na specifične molekularne in genetske nenormalnosti, torej glede na njihov specifični genetski profil
Transplantacija srca 28 let po končanem zdravljenju ne-Hodgkinovega limfoma v otroštvu: prikaz primera
Get PDFIn patients, who have received cancer treatment in childhood, the damages of the cardiovascular system are among the primary causes for later mortality, which is seven times higher than in general population. The most frequent cause for heart complications in cancer patients are anthracycline, which are the most effective medications for neoplastic diseases. In our patient case report we wish to draw attention to the advanced heart muscle defect after treatment of non-Hodgkin’s lymphoma with chemotherapy, which included anthracyclines and alkaline agents, after 28 years resulted in heart failure and required a heart transplant. In patients treated with anthracyclines, lifetime active monitoring of their cardiac function is crucial, so that any heart disturbances (also clinically silent) are discovered as soon as possible and treated accordingly. Echocardiography is the most frequently used diagnostic method for heart function evaluation within the scope of monitoring subsequent consequences of cytostatic treatment and/or radiation. It is very important that any potential defects are discovered at a stage when the patient is still asymptomatic, because appropriate treatment (mainly ACE inhibitors and beta blockers), appropriate lifestyle, as well as minimising other risks for developing cardiovascular disease can prevent or delay the development of a life-threatening heart defect.Pri bolnikih, ki so se zdravili zaradi raka v otroštvu, so okvare kardiovaskularnega sistema med poglavitnimi vzroki pozne umrljivosti, ki je sedem-krat večja kot pri splošni populaciji. Najpogostejši vzrok komplikacij na srcu pri bolnikih z rakom so antraciklini ki sodijo med najučinkovitejša zdravila neoplastičnih bolezni. Pri opisu primera našega bolnika želimo opozoriti na napredujočo okvaro srčne mišice po zdravljenju ne-Hodgkinovega limfoma s kemoterapijo, ki je vsebovala antracikline in alkilirajoče agense, in je 28 let po končanem zdravljenju privedla do odpovedi srca, zaradi katere je bila potrebna transplantacija srca.
Pri bolnikih, zdravljenih z antracikini, je zelo pomembno doživljenjsko sledenje funkcije srca, da vsako motnjo (tudi klinično nemo) na srcu čim prej odkrijemo in ustrezno zdravimo. Ehokardiografija je najpogosteje uporabljena diagnostična metoda za ocenjevanje delovanja srca v okviru sledenja poznih posledic zdravljenja s citostatiki in/ali obsevanjem. Zelo pomembno je morebitne okvare najti v fazi, ko je bolnik še asimptomatski, saj lahko z ustreznim zdravljenjem (predvsem ACE inhibitorji in beta-blokatorji) in ustreznim načinom življenja in zmanjševanjem drugih dejavnikov tveganja za razvoj kardiovaskularnih obolenj preprečimo oz. upočasnimo razvoj življenje ogrožujoče okvare srca
Prikaz bolnika z zasevkom v telesu vretenca L1 nejasnega izvora
Get PDFMetastases of bone malignancies are much more common than primary neoplasms. The site of origin remains unknown in approximately 2% of metastases. We present a case of a 59-year-old patient referred to our Institute for pathological fracture of the L1 vertebral body. After removing the majority of the body, a detailed pathological examination and extensive diagnosis, the question of primary tumour origin still remains unsolved.Zasevki malignomov v kosti so znatno pogostejši od primarnih novotvorb. Približno 2 % zasevkov, kljub številnim opravljenim preiskavam, ostane brez jasnega mesta izvora. Predstavljeni 59-letni bolnik je bil sprejet zaradi patološkega preloma telesa vretenca L1. Po odstranitvi večine telesa, natančni patološki preiskavi in razširjeni diagnostiki, vprašanje glede izvora primarnega tumorja še vedno ostaja nerazrešeno. ; slv - slovensk
Tarčno zdravljenje slovenskih bolnikov z razsejanimi gastrointestinalnimi stromalnimi tumorji
Get PDFIn the last 30 years, major progress has been made in the classification, diagnosis and treatment of gastrointestinal stromal and mesenchymal neoplasms. Gastrointestinal stromal tumours (GIST) represent less than 1% of all malignant gastrointestinal tumours. The clinical picture depends on the site, size and malignant potential of the GIST. Metastatic GIST is a case of successful treatment, as the detection of KIT- and PDGFR-signalling pathways and kinase inhibitors, such as imatinib, mesylate and sunitinib, has significantly improved the prognosis of this disease. The treatment outcome in Slovenian patients with metastatic GIST is comparable to the treatment outcome observed in patients treated in major international clinical trials. We used the follow-up protocol which, besides contrast computed tomography of the abdomen, also included ultrasound of the abdomen. By doing so, along with comparable survival rates, we improved the quality of life of our patients and reduced the treatment costs.Klasifikacija, diagnostika in zdravljenje stromalnih ter mezenhimskih neoplazem prebavil je v zadnjih 30 letih doživela obsežen napredek. Gastrointestinalni stromalni tumorji (GIST) predstavljajo manj kot 1 % vseh malignih tumorjev prebavil.Klinična slika je odvisna od mesta, velikosti in malignega potenciala GIST. Razsejani GIST predstavlja primer uspešnega zdravljenja s tarčno terapijo, saj se je z odkritjem KIT in PDGFR signalne poti ter tirozin kinaznih inhibitorjev, kot staimatinib mesilat in sunitinib, prognoza te bolezni pomembno izboljšala. Izhod zdravljenja slovenskih bolnikov z razsejanim GIST je primerljiv z izhodom zdravljenja bolnikov, ki so bili zdravljeni v pomembnih večjih mednarodnih kliničnih raziskavah, srednji čas do progresa bolezni pri naših bolnikih je 52 mesecev in srednje preživetje 72 mesecev. Uporabljali smo protokol sledenja, ki je poleg kontrastne računalniške tomografije trebuha vključeval tudi preiskavo trebuha z ultrazvokom. S tem smo ob primerljivem preživetju izboljšali kakovost življenja naših bolnikov in zmanjšali stroške zdravljenja. ; slv - slovensk
15. svetovni kongres o raku prebavil
Get PDFThe 15th World Congress on Gastrointestinal Cancer took place from 3 to 6 July 2013 in Barcelona. This is a global event addressing individual types of gastrointestinal cancer in accordance with the latest recommendations and findings, from diagnosis to treatment. The focus is on individual management of each patient and the importance of a multidisciplinary approach, including the most recently discovered molecular mechanisms. Over 60 world-renowned lecturers, all experts in their fields, presented the latest findings and recommendations or lead small targeted groups of physicians who attended sessions on specific topics. At the Congress, the participants were also given the opportunity to present their research results, with their abstracts being published in the Annals of Oncology. Two Slovenian abstracts were presented, both from the field of postsurgical treatment of gastric cancer. In the following pages, we will present only some of the new findings and the outlines presented at the Congress.Ni abstrakta
Več obrazov sindroma Lynch: odkrivanje zarodnih mutacij v genu MSH6
Get PDFThe Department of Molecular Diagnostics at the Institute of Oncology Ljubljana has introduced testing of germ-line mutations in the MSH6 gene. Mutations in this gene are associated with the Lynch syndrome and represent an increased likelihood for the development of colorectal, endometrial, ovarian, and other cancers. The presence of mutations in the MSH6 gene is tested using the direct sequencing method and the MLPA multiplex ligation-dependent probe amplification) method. While sequencing allows us to detect point mutations and small deletions and insertions, the MLPA method is used to detect the presence of large deletions and insertions in the gene or a deletion of the entire gene. Mutations in the MSH6 gene are tested in persons who, in the process of genetic counselling, show an increased likelihood of developing Lynch syndrome. A timely detection of mutations in the genes associated with the development of cancer is important for the carriers of mutations, as a proven mutation is a reason for individualised clinical monitoring and/or preventive measures in mutation carriers.Na Oddelku za molekularno diagnostiko Onkološkega inštituta Ljubljana smo uvedli testiranje zarodnih mutacij vgenu MSH6. Mutacije v tem genu so povezane z Lynchevim sindromom in predstavljajo povečano verjetnost za nastanekraka na debelem črevesu in danki, raka maternične sluznice,raka jajčnikov in drugih vrst raka. Za testiranje prisotnosti mutacij v genu MSH6 uporabljamo metodo neposrednega sekvenciranja in metodo MLPA (ang. multiplex ligation-dependentprobe amplification). S sekvenciranjem odkrivamo točkovne mutacije in manjše delecije ter insercije. Z metodo MLPA pa prisotnost večjih delecij in insercij v genu, oziroma delecijo celotnega gena. Mutacije v genu MSH6 testiramo pri osebah, za katere se v postopku genetskega svetovanja pokaže večja verjetnost Lynchevega sindroma. Pravočasno odkrivanje mutacij v genih, povezanih z nastankom raka, je za nosilce mutacij pomembno, saj je dokazana mutacija razlog za prilagojeno klinično spremljanje in preventivne ukrepe pri nosilcih mutacije. ; slv - slovensk