Colonic tubular adenoma with clear cell change – case report with whole exome sequencing and updated review of the literature : [case report]

Introduction: Colorectal tubular adenomas displaying clear cell change are rare entities, with unknown clinical relevance, prognosis, immunohistochemical, and molecular features. Case presentation: Hereby we report a case of a 43-year-old female patient with a rectosigmoid polyp. Histologically, conventional dysplasia was visible with scattered areas displaying clear cell change. Whole exome sequencing (WES) was carried out and revealed high tumour mutation burden, and 7 pathogenic mutations, including TP53, APC, FGFR4, EHBP1, IL4R, TYR, and ACTN3.Conclusion: Clear cell change may only be present in less than 0,1% of adenomas. Aetiology is not well understood, additionally, few authors suggest autolysis or fixation problems. Our WES resulted in newly found pathogenic mutations, and high mutation burden, proving the lesion’s neoplastic origin. Hitherto, neither special stainings, nor immunohistochemical markers proved to be useful in the diagnostic process. From a differential diagnostic perspective, enteroblastic differentiation, primary and secondary clear cell adenocarcinoma has to be excluded

Hirtelen szívhalál sarcoidosis következtében [Sudden cardiac death due to sarcoidosis]: case report

Sarcoidosis is a systemic granulomatous disease of unknown aetiology, which is characterized by bilateral hilar lymphadenopathy and pulmonary disease. Clinically detected cardiac involvement occurs in 5% of sarcoid patients, although cardiac manifestations are discovered in 25% of the cases at autopsy. Sarcoid heart disease frequently causes atrioventricular block. The authors present the case of a 44-year-old man with bradycardia. On admission, second degree Mobitz II, then third degree atrioventricular block was diagnosed. Coronarography showed normal coronary arteries. 2.5 years following artificial Biotronik Entovis DR type pacemaker implantation, sudden cardiac death occurred. Autopsy revealed sarcoidosis with cardiac, pulmonary, splenic, renal and lymph node involvement. In case of young or middle-aged patients with atrioventricular block, it is best to search for other causes if the most common coronary origin can be excluded. Orv Hetil. 2017; 158(27): 1067-1070

Elastic staining does not assist detection of venous invasion in cutaneous melanoma

The aim of the present study was to determine the benefit of orcein elastic staining of primary cutaneous melanoma specimens in detecting venous invasion. Primary cutaneous melanomas in vertical growth phase were assessed for vascular invasion. All tumour blocks were stained with haematoxylin and eosin (H&E) and orcein. The cases were reviewed by two pathologists. Vascular invasion was not identified more frequently on orcein stained slides than on H&E stained ones. Elastosis and periappendiceal elastic fibres interfered with vascular invasion detection with elastic staining. Based on our study, we conclude that elastic stains such as orcein do not improve the detection rate of venous invasion in primary cutaneous melanomas

The Petersen prognostic index revisited in Dukes B colon cancer - Inter-institutional differences

A prognostic index (Petersen index, PI) was created for patients with pT3-4 pN0 M0 (Stage II, Dukes' B) colon cancers to distinguish between patients with better and worse outcome, and to help in recommending adjuvant chemotherapy for high risk patients in this stage. The prognostic value of the PI was evaluated in two independent retrospective series of stage II (Dukes' B) colon cancer patients. The parameters defining the PI (venous invasion, peritoneal involvement, circumferential margin involvement, perforation through the tumour) and performance of the PI were compared in two institutions. The two series of patients consisted of 127 and 87 patients. Venous invasion was more frequently detected at one of the centres (p<0.01) and tumour perforation was more frequent at the other (p<0.01). There were no significant differences in the 5-year survival estimates of all patients (p=0.19), and of either the low PI value groups (p=0.52) or that of the high PI value groups (p=0.99) between the two sites. In contrast, there were significant differences in the survival estimates between patients of the low PI category and those of the high PI category altogether (p<0.01) and in either centre. Although, it was expected that differences in the frequency of the parameters involved in the PI would influence its performance, this was not confirmed by the data. Our results suggest that using the PI may be of value in prognostic factor based therapy selection of colon carcinoma patients