Novel, clinically relevant genomic patterns identified by comprehensive genomic profiling in ATRX-deficient IDH-wildtype adult high-grade gliomas.

Glioblastomas are the most common IDH-wildtype adult high-grade gliomas, frequently harboring mutations in the TERT gene promoter (pTERT) and utilizing the subsequent telomerase overexpression for telomere length maintenance. However, some rare cases show loss of ATRX and use alternative mechanisms of telomere lengthening. In this study, we performed the first complex genomic analysis specifically concentrating on the latter subgroup. Comprehensive genomic profiling of 12 ATRX-deficient and 13 ATRX-intact IDH-wildtype adult high-grade gliomas revealed that ATRX and pTERT mutations are mutually exclusive. DNMT3A alterations were confined to ATRX-deficient, while PTEN mutations to ATRX-intact cases. RAS-MAPK pathway alterations, including NF1 mutations, were more characteristic in the ATRX-deficient group. Variants of genes related to homologous recombination repair showed different patterns of affected genes. Two ATRX-deficient tumors with high tumor mutational burden and mismatch repair deficiency were found. One of these contained a novel fusion involving the NTRK2 and LRRFIP2 genes, while the other showed loss of MSH2 and MSH6 without genetic alterations in the encoding genes suggesting an epigenetic background. Genetic characteristics of ATRX-deficient IDH-wildtype adult high-grade gliomas suggest that these tumors are particularly intriguing targets of potential future therapeutic interventions including immunotherapies combined with MAPK pathway inhibition and DNA repair inhibitors.

Artificial Intelligence-Based Colorectal Polyp Histology Prediction by Using Narrow-Band Image-Magnifying Colonoscopy.

BACKGROUND/AIMS: We have been developing artificial intelligence based polyp histology prediction (AIPHP) method to classify Narrow Band Imaging (NBI) magnifying colonoscopy images to predict the hyperplastic or neoplastic histology of polyps. Our aim was to analyze the accuracy of AIPHP and narrow-band imaging international colorectal endoscopic (NICE) classification based histology predictions and also to compare the results of the two methods. METHODS: We studied 373 colorectal polyp samples taken by polypectomy from 279 patients. The documented NBI still images were analyzed by the AIPHP method and by the NICE classification parallel. The AIPHP software was created by machine learning method. The software measures five geometrical and color features on the endoscopic image. RESULTS: The accuracy of AIPHP was 86.6% (323/373) in total of polyps. We compared the AIPHP accuracy results for diminutive and non-diminutive polyps (82.1% vs. 92.2%; p=0.0032). The accuracy of the hyperplastic histology prediction was significantly better by NICE compared to AIPHP method both in the diminutive polyps (n=207) (95.2% vs. 82.1%) (p<0.001) and also in all evaluated polyps (n=373) (97.1% vs. 86.6%) (p<0.001). CONCLUSION: Our artificial intelligence based polyp histology prediction software could predict histology with high accuracy only in the large size polyp subgroup.

Neuroendocrine Cancer of the Prostate.

Neuroendocrine cancer of the prostate is considered to be a rare entity with bad prognosis and limited therapeutic options. We performed a prospective analysis of the patients treated in our hospital for prostate cancer between 1st January 2015 and 31rd December 2018. Neuroendocrine phenomena were tested by immunohistochemistry and laboratory chemistry on the request of the clinicians in the cases when a positive diagnosis was suspected. Clinical tableaux of high suspicion of neuroendocrine cancer included radiological progression of a metastatic disease without PSA rise, relatively extended metastatic disease associated to a low PSA, disease with non-pulmonary visceral metastases. 10 patients were diagnosed with neuroendocrine tumour out of 521 prostate cancers. Half of the patients had a survival over a year. 3 patients received 3 lines of efficacious palliative chemotherapy. 1 patient underwent prostatectomy after neoadjuvant chemotherapy for a localised disease. The incidence of neuroendocrine tumours among prostate cancer patients was higher than expected. Some of the patients had a relatively good outcome.

[Effective palliative chemotherapy in a patient with collecting duct carcinoma of a unilateral kidney associated with anuria. Case report]. / Féloldali vese gyujtocsatornás daganatának eredményes palliatív kemoterápiás kezelése anuria mellett.

The case of a 54-year-old woman is presented. She underwent right sided unilateral nephrectomy for metastatic bilateral renal tumour of the Bellini collecting ducts. Progression of the contralateral tumour resulted in acute complete anuric renal failure. Haemodialysis was started along with palliative gemcitabine (1000 mg/m(2))-cisplatine (70 mg/m(2)) chemotherapy. In parallel, renal function was improving and dialysis could be stopped at the end of the chemotherapy line comprising 6 cycles. Half a year later the patient was lost of uncontrolled local and pulmonary progression. The potentially nephrotoxic cisplatine chemotherapy associated to complex supportive treatment improved the renal function by controlling diffusely infiltrative tumour growth and allowed a survival benefit over one year with active household keeping capacity.