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Gorlin-Goltz syndrome (GGS) or nevoid basal cell carcinoma syndrome is a rare tumour-overgrowth syndrome associated with multiple developmental anomalies and a wide variety of tumours. Here, we describe a case of a man aged 23 years with GGS with bilateral giant tumours adjacent to both adrenals that raised the suspicion of malignancy on imaging. Histological analysis of both surgically resected tumours revealed perivascular epitheloid cell tumours (PEComas) that were independent of the adrenals. Exome sequencing of the patient’s blood sample revealed a novel germline heterozygous frameshift mutation in the PTCH1 gene. As a second hit, a somatic five nucleotide long deletion in the PTCH1 gene was demonstrated in the tumour DNA of both PEComas. To the best of our knowledge, this is the first report on PEComa in GGS, and this finding also raises the potential relevance of PTCH1 mutations and altered sonic hedgehog signalling in PEComa pathogenesis. The presence of the same somatic mutation in the bilateral tumours might indicate the possibility of a postzygotic somatic mutation that along with the germline mutation of the same gene could represent an intriguing genetic phenomenon (type 2 segmental mosaicism).

Hepatocellular carcinoma (HCC) is the leading primary liver tumor and a main indication for transplant. Transplant criteria are based on clinicopathologic features, meanwhile adequate downstaging and molecular mechanisms are getting more attention in evolving therapeutic algorithm of HCC. The aim of our study was to overview the results of the Hungarian Liver Transplant Program in the field of HCC and introduce new aspects of personalized treatment options.We performed retrospective analysis of survival and tumor recurrence of HCC-associated liver transplant recipients between October 2013 and December 2020. Patients were categorized in Milan criteria (MC), beyond MC but within University of California, San Francisco (UCSF), and beyond UCSF criteria groups after pathologic examination of the explanted liver. Demographic data and preoperative locoregional treatments were assessed.A total of 529 primer liver transplants were performed, 88 because of HCC. A total of 87 patients had underlying cirrhosis because of hepatitis C (54%), alcohol-related liver disease (33.7%), hepatitis B (4.5%), or unknown etiology. A total of 55.6% of the patients had at least one locoregional treatment. A total of 67.4% of the patients were within MC, 5.6% were within UCSF criteria, and 27% were beyond UCSF criteria. The 1-, 3-, and 5-year survival rates were 80%, 79%, and 75%. The outcome was better in early-stage tumors, but the difference was not significant (P = .745) CONCLUSIONS: The favorable survival in our department legitimates the strict transplant criteria of HCC. Adequate locoregional therapy as downstaging can expand recipient pool. Molecular tumor profiling may lead to personalized treatment of HCC.

Összefoglaló. A szerzők egy különleges pancreaselváltozás esetét ismertetik, melyben az acinusok neuroendokrin jellegű transzformációja diffúz, atípusos megjelenésű szigetsejtes hyperplasiával társult, valamint a pancreas mindhárom sejtvonalát (acinaris, ductalis, insularis) tartalmazó nodulusok képződtek. A komplex megjelenés ellenére a kórfolyamat nem járt endokrin tünetekkel. Esetünkben a kiváltó ok hátterében a struktúrák kóros progenitorsejt-differenciációja állhatott. Az irodalomban ilyen közlés eddig nem ismert. Orv Hetil. 2021; 162(6): 227–232. Summary. The authors present a case of a peculiar pancreatic lesion, in which the neuroendocrine transformation of the acini was associated with a diffuse, atypical insular hyperplasia, and micronodules exhibiting trilineage differentiation. Despite the complex alteration, no endocrine symptoms were noted. The case may represent the result of an abnormal pancreatic differentiation raising the possibility of reprogramming of the progenitor cells. To the best of our knowledge, this is the first report of such a lesion in the literature. Orv Hetil. 2021; 162(6): 227–232.

Background In the Eurotransplant, 12.6% of kidney transplantations are a repeat procedure. Third transplants are significantly more complex than first and second ones. We compared the results of first (PRT) versus third (TRT) transplantations. Methods Between 2011 and 2016, we performed 779 deceased donor adult kidney transplantations, 14.2% out of them were second, 2.6% (20) third, and 0.3% fourth. We compared the pre-, intra-, and postoperative data, kidney function, and survival rate. Results Recipients of TRT were younger (53.4 vs. 47.3 p = 0.02). HCV infection rate (20%, p = 0.00) is ten times higher. The operation time is longer (132 vs. 152 min, p = 0.02), and delayed graft function is much more frequent (22.4% vs. 60%, p = 0.00). Induction therapy was given to every TRT (7.9% vs.100%), but as a result, the rejection rate was the same (~ 15%). Hospital stay is a week longer. Patient’s survival at 1, 3, and 5 years for PRT is 96.4%, 93.9%, and 91.2% and for TRT is 90%, 85%, and 78.4%, respectively (p = 0.023). TRT’s odds ratio of fatal outcome is 4.35 (1.5–12.5). Graft survival at 1, 3, and 5 years for PRT is 93.1%, 91.4%, and 90.3% and for TRT is 75%, 75%, and 75%, respectively (p = 0.020). TRT’s odds ratio of graft loss is 3.14 (1.1–8.9). Of PRT 85.76%, out of PRT 85.76%, while out of TRT 60% live with a functioning graft, p=0.00149. Conclusion In a third transplant, both graft and patient survival are significantly inferior to primer ones. Careful selection is required to minimize the patient risk and graft loss.

Absztrakt: Bevezetés: A jóindulatú pajzsmirigygöbök gyakori elváltozások, kezelést azonban ritkán igényelnek. Panaszokat okozó, gyorsan növekvő, túlműködő göbök kezelésére a rádiófrekvenciás ablatio mint hőablatiós módszer hatékony alternatív lehetőség, melyet ezen indikációban hazánkban elsőként alkalmaztunk. Célkitűzés: Ismertetjük a jóindulatú pajzsmirigygöbök rádiófrekvenciás ablatiós kezelési sajátosságait, fontosságát, és értékeljük saját klinikai eredményeinket. Módszer: 2016. június és 2019. szeptember között 140 páciens 186 pajzsmirigygöbét kezeltük a páciensek kiválasztását követően. A beavatkozások előtt és után meghatároztuk a kezelt göbök térfogatát, legnagyobb átmérőjét és a térfogatcsökkenést a vizsgált időszakban. Betegeinket legalább fél évig utánkövettük, az átlagos követési idő 12,5 ± 5,9 hónap volt. Eredmények: A kontrollvizsgálatok során kapott eredmények alapján az elváltozások mérete és erezettsége csökkent. Az átlagos térfogatcsökkenés 44,7 ± 17,6% volt az első hónap végére és 72,9 ± 17,9% a hatodik hónap után. Összesen 3 minor szövődményt észleltünk. Következtetés: A rádiófrekvenciás ablatio a jóindulatú pajzsmirigygöbök kezelésére jól használható, hatékony eljárás, mely válogatott esetekben a sebészi kezelés értékes alternatívája. Orv Hetil. 2020; 161(27): 1131–1136.

Mitotane has been used for the treatment of adrenocortical cancer (ACC) for over 50 years. Despite its widespread use both in monotherapy and in combination with chemotherapeutics, our knowledge of its mechanism of action and therapeutic efficacy is scarce. The number of patients with advanced ACC who have achieved complete remission documented by detailed clinical data is below ten. We report a case of a 64-year-old woman with a non-functional ACC. Histological examination showed vascular invasion, Ki67 of 10% and a mitotic count of 3/10 high-power field. Immunohistochemistry revealed p53 positivity. Pathological TNM grade was reported as T2N0M0, ENSAT stage 2. Nine months after the initial diagnosis, re-staging CT revealed multiple peritoneal nodules, lymph node and kidney metastases confirmed by histologic examination. Mitotane monotherapy was started with a maintenance dose between 2.0 and 2.5 grams/day. Partial remission was established at six months. Subsequently, for another 12 months, each of the three-monthly CT scans confirmed complete remission. Nineteen months after the initiation of mitotane, an unexpected sudden death occurred. A detailed autopsy work-up, performed in the full awareness of oncological history, confirmed complete remission. The authors review the molecular biomarkers and clinical features reported as predictors of response to mitotane monotherapy.

Összefoglaló. A szerzők egy különleges pancreaselváltozás esetét ismertetik, melyben az acinusok neuroendokrin jellegű transzformációja diffúz, atípusos megjelenésű szigetsejtes hyperplasiával társult, valamint a pancreas mindhárom sejtvonalát (acinaris, ductalis, insularis) tartalmazó nodulusok képződtek. A komplex megjelenés ellenére a kórfolyamat nem járt endokrin tünetekkel. Esetünkben a kiváltó ok hátterében a struktúrák kóros progenitorsejt-differenciációja állhatott. Az irodalomban ilyen közlés eddig nem ismert. Orv Hetil. 2021; 162(6): 227-232. Summary. The authors present a case of a peculiar pancreatic lesion, in which the neuroendocrine transformation of the acini was associated with a diffuse, atypical insular hyperplasia, and micronodules exhibiting trilineage differentiation. Despite the complex alteration, no endocrine symptoms were noted. The case may represent the result of an abnormal pancreatic differentiation raising the possibility of reprogramming of the progenitor cells. To the best of our knowledge, this is the first report of such a lesion in the literature. Orv Hetil. 2021; 162(6): 227-232.

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Benign thyroid nodules are frequent findings in imaging studies, most of the time not requiring any intervention. Treatment is usually started when nodules increase in size, the patient becomes symptomatic or clinically relevant hyperthyroidism develops. Thermoablation is an effective alternative modality. In Hungary, our team has pioneered these interventions using radiofrequency ablation for decreasing the size of the nodules.We are presenting our results showing the effectiveness of this treatment after introducing the role, importance and technique of thermoablation in benign thyroid nodules.Between June of 2016 and September of 2019, 186 nodules of 140 patients were treated with radiofrequency ablation and had at least 6 months of follow up. The volume and diameter of all the ablated nodules were measured and calculated, then the decreases of these parameters were followed using ultrasonography. The mean follow-up time was 12.5 ± 5.9 months.The size measurements at the follow-up ultrasonography examinations showed a decrease in size and vascularity. The mean volume reduction was 44.7 ± 17.6% at one-month post-treatment and 72.9 ± 17.9% at 6 months. There were 3 minor complications.Radiofrequency ablation represents a feasible, effective, well tolerated method for outpatient treatment of benign thyroid nodules. This method is a valuable alternative to surgical treatments in selected cases. Orv Hetil. 2020; 161(27): 1131-1136.

Obturator hernia presenting in elderly women accompanies a high rate of bowel resection because of strangulation. Open laparotomy is usually indicated in general anesthesia. However, minimal invasive approaches would be advantageous unless resection is necessary. We aimed to determine clinical and radiological criteria for the selection of these patients.Preoperative clinical data from 23 cases and known signs of ischemia on CT examination were retrospectively compared to operative findings.Identification of patients having necrotic bowel was not possible by any clinical parameter or their combination. Patients with necrosis had longer history of symptoms, but acute onset less than 24 h does not exclude the need of resection (negative predictive value 83%). Impaired contrast enhancement was frequently seen on CTs independently from the onset of symptoms suggesting early vascular compromise (sensitivity 80%, specificity 22%), but not helping the differentiation. Signs of ischemia (bowel wall thickening and/or ascites) were present in every resected case while both were absent in 69% of patients having viable bowel.Absence of ischemic signs on nonenhanced CT may allow safe and more accurate selection of patients for minimal invasive surgery than any clinical or anamnestic parameter in obturator hernia.