Onkologija
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Mutacije RET proto-onkogena v slovenski populaciji bolnikov z medularnim rakom ščitnice
Get PDFBackground. Medullary thyroid cancer (MTC) is a rare, endocrine tumour that occurs as part of hereditary cancer syndrome in approximately 25% of cases and develops as a sporadic form in 75%. The aim of the study was to evaluate the frequency and type of RET mutation occurrence in the Slovenian population between 1995 and 2015.Methods. A retrospective analysis of the National Cancer Registry of the Republic of Slovenia and the Registry of Patients with MTC of the Institute of Oncology in Ljubljana between 1995 and 2015 was made. The data of 143 patients with confirmed MTC and 43 healthy relatives referred to genetic counselling and testing was analyzed. Genomic DNA was isolated from peripheral blood leukocytes. Exons 10, 11, 13, 14, 15 and 16 of the RET proto-oncogene were amplified in the polymerase chain reaction (PCR). Point mutations of the RET gene were detected by single strand confirmation analysis (SSCA) and DNA sequencing. Detected mutations were confirmed by restriction enzymes.Results. A germline mutation in the RET proto-oncogene was identified in 51 individuals, 37 among them were patients with MTC, which accounts for 25.9% of all patients with MTC. Eight different germline RET mutations were found. Codons 634 and 618 were the most frequently altered codons, followed by codon 790, codon 804 and codon 918. The average crude incidence rate of MTC (between 1995 and 2015) is 0.34 per 100,000.Conclusions. We estimated that the crude incidence rate of MTC in Slovenia is 0.34 per 100,000. We discovered that 25.9% of Slovenian patients with MTC are RET mutation carriers. The most common mutations were found on codons 634 and 618.Izhodišča. Medularni rak ščitnice (MRŠ) je redek endokrini tumor, ki se v približno 25 % primerov pojavlja v družinski obliki bolezni v sklopu multiple endokrine neoplazije tipa 2, v 75 % pa je bolezen sporadična. Namen dela je bil oceniti incidenco MRŠ ter pogostost in vrsto RET-mutacij v slovenski populaciji bolnikov med letoma 1995 in 2015.Metode. Retrospektivno smo analizirali podatke Registra raka Republike Slovenije in Registra bolnikov z MRŠ Onkološkega Inštituta v Ljubljani, zbrane med letoma 1995 in 2015. Vključili smo 143 bolnikov s potrjenim MRŠ in 43 njihovih zdravih sorodnikov, ki so bili napoteni na genetsko svetovanje in testiranje. Genomsko DNK smo izolirali iz levkocitov periferne krvi. Eksone 10, 11, 13, 14, 15 in 16 RET protoonkogena smo pomnožili z verižno reakcijo s polimerazo. Točkovne mutacije RET protoonkogena smo odkrili z metodo SSCA in DNA-sekvenciranjem. Zaznane mutacije so bile potrjene z restrikcijskimi encimi.Rezultati. Zarodno mutacijo RET protoonkogena smo odkrili pri 51 osebah; med njimi je bilo 37 bolnikov z MRŠ, kar predstavlja 25,9 % vseh bolnikov z MRŠ. Odkrili smo osem različnih mutacij RET protoonkogena. Najpogosteje smo potrdili mutacijo v kodonih 634 in 618, sledili so kodoni 790, 804 in 918. Povprečna groba letna incidenčna stopnja MRŠ v Sloveniji za opazovano obdobje znaša 0,34/100.000 prebivalcev.Zaključek. Ocenjena povprečna groba letna incidenčna stopnja MRŠ v Sloveniji je bila 0,34/100.000. Poleg tega smo ugotovili, da se RET-mutacija pojavlja v naši populaciji bolnikov v 25,9 % ter da najpogosteje prizadene kodona 634 in 618
Deset let Državnega presejalnega programa za raka dojk DORA
Get PDFIn 2003, European Commission issued recommendations for breast cancer screening programme implementation and called upon member states to establish it untill 2008.
Slovenian national breast cancer screening programme DORA started inviting women in 2008 and finished national implementation in 2017. Women aged 50 to 69 are invited to attend screening mammography every 2 years. Mammography can show clinically occult impalpable breast lesions. In case of positive mammography test, women are invited for further assessment of lesions, and treated in case of a breast cancer diagnosis. Since 2018, screening mammographies are performed on 21 mammographic machines at 16 stationary and in 3 mobile screening centres. Additionally, further assessment and screen-detected cancer treatment take place at two screening and diagnostic centres at the Institute of Oncology Ljubljana and at the Maribor University Medical Centre.
DORA programme follows European guidelines for quality control in screening from the very beginning and provides equal care for all invited women in all DORA screening units throughout Slovenia. The aim of the screening programme is to decrease breast cancer mortality rates in the target population by 25-30%, with precondition of 70% uptake. Slovenian programme effectiveness is proven by acceptable performance indicators' results.
Characteristics of Slovenian organized breast cancer screening are: centralized population-based programme, invitations with prefixed appointment for eligible women, double reading, consensus conference, further assessment is managed by screening programme, multidisciplinary meetings, screening registry with a special computer software for registration of all screening and assessment activities, quality assurance for radiologists and radiographers, regular quality control for programme providers, yearly monitoring of screening performance indicators.Priporočila za vzpostavitev presejalnih programov za raka dojk je leta 2003 izdala Evropska komisija in države članice Evropske zveze pozvala, da jih organizirajo do leta 2008.
V Sloveniji od leta 2008 deluje Državni program za raka dojk DORA, ki je konec leta 2017 vključeval vse slovenske ženske z ciljne skupine. Ženske v starosti 50–69 let so vsaki dve leti pisno povabljene na presejalni pregled z mamografijo, ki omogoča odkritje še netipnih sprememb v dojki. V primeru sumljivih sprememb na mamografiji so ženske povabljene na nadaljnjo obravnavo, če je odkrit rak dojke, pa tudi na zdravljenje. Od 2018 v okviru programa deluje 21 mamografov v 16 stacionarnih in 3 mobilnih presejalnih enotah, kjer se opravljajo presejalne mamografije, in 2 presejalno-diagnostična centra za nadaljnjo obravnavo žensk in zdravljenje v presejanju odkritih rakov.
Program DORA deluje v skladu z visokimi standardi Evropskih smernic za zagotavljanje kakovosti presejanja za raka dojk in zagotavlja enako obravnavo za vse udeleženke v katerikoli presejalni enoti v Sloveniji. Cilj presejalnega programa je ob vsaj 70-odstotni udeležbi žensk doseči znižanje umrljivosti za rakom dojk v ciljni populaciji za 25–30 %. Letno merjeni kazalniki kakovosti programa kažejo, da je program učinkovit in vodi k omenjenemu cilju.
Posebnosti slovenskega organiziranega programa so: centraliziran populacijski program, vabljenje žensk z vnaprej določenim terminom slikanja, dvojno odčitavanje, konsenz konferenca, nadaljnja obravnava je del presejalnega postopka, multidisciplinarni sestanki, presejalni register z enotno aplikacijo za vnašanje vseh presejalnih korakov – od vabila do mamografij in nadaljnje obravnave, nadzor kakovosti dela radioloških inženirjev in radiologov, stalen strokovni nadzor nad izvajalci programa in letno merjenje kazalnikov kakovosti programa
Pogledi bolnikov in onkologov na uvajanje telemedicine v času epidemije COVID-19
Get PDFIntroduction: Due to epidemiologic measures, especially physical distancing, the novel coronavirus disease 2019 (COVID-19) pandemic has accelerated the implementation of telemedicine into clinical practice. Therefore, we aimed to gather oncology patients’ and oncologists’ perspectives on the value of telemedicine in oncology care.Methods: Between May 27 and June 11 2020, we have invited oncology patients to respond to our online quantitative questionnaire with the help of patients’ organization ONKO NET. Oncologists were invited via email to respond to a separate questionnaire. Additionally, a cross-sectional day has been selected to include patients, currently undergoing radiotherapy at the Institute of Oncology Ljubljana.Results: We have gathered responses from 475 patients, out of which 310 (65,3%) were undergoing active oncology treatment and 132 (27,8%) were in follow-up care. Almost half of the patients (48,4 %) were patients with breast cancer. One tenth of the patients (11,3 %) were thinking of skipping their doctor's appointment due to pandemic situation. Approximately three thirds of patients (72,4%) reported owning smartphone or tablet and 30% would be willing to use telemedicine more often. Out of 168 invited oncologists, 101 responded (60%) and estimated that tlemedicine would be suitable for 21% of their services (0–80 %). More than half of them would be willing to use telemedicine if they would be patients themselves (54,5%).Conclusion: Acknowledging the limitations, wider implementation of telemedicine into oncology care would be acceptable to an important part of oncology patients and oncologists.Izhodišča: Pandemija koronavirusne bolezni 2019 (COVID-19) je zaradi epidemioloških ukrepov, zlasti spodbujanja fizičnega distanciranja, marsikje po svetu spodbudila uvajanje telemedicine v klinično prakso, zato smo želeli pridobiti stališča onkoloških bolnikov in zdravnikov do tovrstne obravnave v onkologiji.Metode: K izpolnjevanju dveh ločenih kvantitativnih vprašalnikov smo v obdobju med 27. majem in 11. junijem 2020 prek elektronske pošte ter s pomočjo Slovenskega združenja organizacij bolnikov z rakom (ONKO NET) povabili bolnike z rakom, ki so bili bodisi na aktivnem zdravljenju, bodisi na sledenju po zaključenem zdravljenju in zdravnike onkologe. Dodatno je bil v Sektorju radioterapije Onkološkega inštituta Ljubljana izveden presečni dan za bolnike med obsevanjem.Rezultati: Na spletni ali natisnjen vprašalnik za bolnike je odgovorilo 475 bolnikov, od tega 310 (65,3 %) na aktivnem onkološkem zdravljenju in 132 (27,8 %) v fazi sledenja. Skoraj polovica bolnikov (48,4 %) je kot svojo primarno diagnozo opredelilo rak dojk. Več kot desetina vseh (11,3 %) je zaradi pandemije želelo opustiti zdravniški pregled. V zasebnem življenju jih pametni telefon ali tablico uporablja 72,4 % in vsaj 30 % bolnikov bi bilo pripravljenih v bodoče pogosteje uporabljati telemedicinske storitve. Od 168 povabljenih zdravnikov jih je na vprašalnik odgovorilo 101 (60 %) in ocenilo, da bi s pomočjo telemedicine lahko opravili 21 % (0–80 %) vseh svojih storitev. Če bi se sami znašli v vlogi bolnika, bi se bila pripravljena telemedicine poslužiti dobra polovica sodelujočih (54,5 %).Zaključki: Uporaba telemedicine v onkologiji bi bila ob upoštevanju nekaterih omejitev sprejemljiva za pomemben del bolnikov in zdravnikov
Obsevanje bolnikov z vstavljenim srčnim spodbujevalnikom ali defibrilatorjem
Get PDFIonizing radiation can damage an inserted electronic device, such as a pacemaker (PM) or implantable cardioverter defibrillator (ICD), if it lies in the irradiation field. Recent findings reported a possible failure of an electronic device, which lies outside the irradiation field due to scattered radiation or the production of secondary neutrons, especially when using higher photon beam energies. For this reason, new recommendations for irradiation of patients with inserted pacemakers or cardioverter-defibrillators were made.Znano je, da ionizirajoče sevanje lahko okvari vstavljeno elektronsko napravo, kot je srčni spodbujevalnik (angl. pacemaker, PM) ali kardioverter-defibrilator (angl. implantable cardioverter defibrillator, ICD), če leži v obsevalnem polju. Nedavna odkritja pa navajajo tudi možno okvaro elektronske naprave, ki leži izven obsevalnega polja, zaradi sipanega sevanja oz. nastanka sekundarnih nevtronov, predvsem pri uporabi višjih energij fotonskega snopa. Iz tega razloga so bila izdelana nova priporočila obsevanja bolnikov z vstavljenimi srčnimi spodbujevalniki ali kardioverterji-defibrilatorji
Postiradiacijska morfea – redek pozni zaplet obsevanja po ohranitveni operaciji raka dojk: prikaz primera
Get PDFWe present a case report of radiation-induced morphea (PIM) or circumscribed localized scleroderma that most often occurs following radiation therapy of the breast. PIM is a rare and underrecognized local side-effect of radiation therapy. Typically, the symptoms of PIM manifest following a variable period of asymptomatic latency, lasting from few months to few years. The etiopathogenesis is unclear. PIM is a clinical diagnosis of exclusion. Differential diagnoses include inflammatory breast cancer, cellulitis or mastitis, breast lymphedema, other dermatological or autoimmune disorders and post-irradiation fibrosis. Careful patient assessment with thorough medical history, physical examination, laboratory tests and surgical biopsy of the affected area is needed to confirm PIM. Early recognition of the acute inflammatory phase is crucial to subsequent disease management in order to prevent late irreversible fibrosis and poor cosmetic outcome of the treated breast.V prispevku opisujemo primer bolnice z lokalizirano morfeo ali sklerodermo (angl. post-irradiation morphea, PIM), ki je redek in slabo prepoznan pozni zaplet obsevanja. Najpogosteje se pojavi po obsevanju dojke. PIM se pojavi po obdobju brez težav, ki lahko traja od nekaj mesecev do več let. Etiopatogeneza ni pojasnjena. Diagnozo lahko postavimo šele, ko smo izključili druge bolezni, ki jo lahko posnemajo. Diferencialno diagnostično v poštev prihaja vnetni rak dojk, okužbe (predvsem v zgodnji fazi PIM), limfedem, druge dermatološke ali avtoimune bolezni ter postiradiacijska fibroza. Za izključitev ostalih bolezni so potrebni natančna anamneza, ustrezne slikovne in laboratorijske preiskave in biopsija prizadetega mesta, s katero lahko, ob ustrezni klinični sliki, diagnozo morfee tudi potrdimo. Zdravljenje PIM je najbolj uspešno, če bolezen pravočasno prepoznamo še v akutni fazi, ko lahko upočasnimo ali ustavimo prehod v fibrozo in tako preprečimo slab kozmetski rezultat lokalnega zdravljenja dojke
Vrednotenje zadovoljstva bolnikov z radioterapevtskimi storitvami na Onkološkem inštitutu Ljubljana
Get PDFIntroduction: In patient-friendly medical organizations, patient satisfaction is the key factor in the planning and provision of services. Patient satisfaction analyses aid the medical staff in finding the drawbacks of patient treatment, in determining the need for further training, and in rewarding and strengthening the medical staff’s work motivation. The purpose of the research is to determine the degree of patient satisfaction at the Department of Teleradiotherapy (TRT) at the Institute of Oncology in Ljubljana. Methods: The empirical part of the research makes use of the quantitative method and data collection by means of a questionnaire, which is based on a five-point Likert scale of satisfaction. A one-day cross-sectional study was conducted on November 2015 and June 2017. Included in the study were all the patients who on that day underwent irradiation and were willing to participate. In the data analysis, a correlation model and a multiple linear regression model were used. Results and discussion: Participating in the analysis were 282 and 269 patients respectively. On average, they gave good ratings (above 4 – satisfied) in the analysis of the performed services. A very strong correlation coefficient (i.e. a correlation coefficient whose value exceeds 0.600) was found in relation to the satisfaction with the operation of the radiotherapy department, namely in terms of work and the provision of information by engineers of radiologic technology and doctors’ work and kindness. All the correlations obtained were statistically significant in terms of risk (1 %). The main findings of multiple linear regression models show, that patients were most satisfied with information provided by receptors, the kindness of nurses and with the work of engineers of radiologic technology and doctors radiotherapists oncologists. Conclusion: Patient satisfaction is created by patients’ wishes and needs with constant upgrades of the medical services provided, and also with continuous improvements in the relationships between the medical staff and their patients. Research shows that overall patient satisfaction is greater if they are satisfied with communication, information and care provided by doctors and medical staff. The same results have been reached in our study.Uvod: Bolniku prijazne zdravstvene organizacije razumejo zadovoljstvo svojih bolnikov kot ključno pri načrtovanju in izvajanju zdravstvenih storitev. Analize o zadovoljstvu bolnikov so zdravstvenemu osebju v pomoč pri odkrivanju pomanjkljivosti pri zdravstveni oskrbi bolnika, ugotavljanju izobraževalnih potreb ter nagrajevanju in krepitvi delovne motivacije osebja. Namen raziskave je ugotoviti zadovoljstvo bolnikov na teleradioterapevtskem oddelku na Onkološkem inštitutu Ljubljana z ocenjevanjem različnih poklicnih profilov (medicinske sestre, radiološki inženirji, zdravniki radioterapevti onkologi) in celotne zdravstvene oskrbe. Metode: Empirični del raziskave je obsegal kvantitativno metodo in zbiranje podatkov z anketnim vprašalnikom z Likertovo petstopenjsko lestvico zadovoljstva. Enodnevna presečna raziskava se je izvajala novembra 2015 in junija 2017. Vključeni so bili tisti dan obsevani bolniki, ki so bili pripravljeni sodelovati. Pri analizi podatkov sta se uporabila korelacijski model in model multiple linearne regresije. Rezultati in razprava: V analizi je sodelovalo 282 oz. 269 bolnikov. V povprečju so podajali visoke ocene zadovoljstva (nad stopnjo 4 – zadovoljen) pri analizi opravljenih storitev. Zelo močne pozitivne povezave (tj. korelacijski koeficient presega vrednost 0,600) so bile na ravni zadovoljstva z delovanjem radioterapevtskega oddelka, pri delu radioloških inženirjev in njihovem nudenju informacij ter delu in prijaznosti zdravnikov. Vse dobljene korelacije so bile statistično značilne na ravni tveganja 1 %. Glavne ugotovitve modelov multiple linearne regresije kažejo, da k zadovoljstvu bolnikov z delovanjem teleradioterapevtskega oddelka v največji meri prispevajo nudenje informacij s strani receptork, prijaznost medicinskih sester in delo radioloških inženirjev ter zdravnikov radioterapevtov onkologov. Zaključek: Zadovoljstvo bolnikov se ustvari s kombinacijo njihovih želja in potreb ter nenehnimi izboljšavami zdravstvenih storitev in boljših odnosov med zdravstvenim osebjem in bolniki. Raziskave kažejo, da je splošno zadovoljstvo bolnikov večje, če so zadovoljni s komunikacijo, pridobljenimi informacijami in oskrbo s strani zdravnikov in medicinskega osebja. Podobne rezultate lahko potrdimo v svoji raziskavi