Atypical teratoid rhabdoid tumor arising in a pleomorphic xanthoastrocytoma: a rare entity.

Atypical teratoid rhabdoid tumor (AT/RT) is a rare and aggressive tumor usually occurring at younger ages. Pleomorphic xanthoastrocytomas (PXA) on the other hand are quiescent tumors with benign behavior. AT/RTs arising in the setting of PXA are exceptional. We present the case of a 23-year-old female patient, the fourth in the literature, speculated as having AT/RT arising within a PXA, as demonstrated by the presence of INI1 mutation. The patient presented with a short history of headache, which increased over time, and emerging seizures. She had a contrast-enhancing mass in the left temporal area demonstrated by MRI. Pathological examination demonstrated a dimorphic tumor containing a spindle-pleomorphic component reminiscent of PXA and a rhabdoid component with INI1 loss showing features of AT/RT. Both components shared the same BRAF mutation, supporting their common origin, and hence the case was speculated as an AT/RT arising in the setting of a PXA by secondary genetic change of inactivation of INI1. She had a poor outcome despite surgery and died 8 months after her diagnosis.
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Eculizumab therapy in a patient with dense-deposit disease associated with partial lipodystropy.

BACKGROUND: Dense deposit disease (DDD) (also known as membranoproliferative glomerulonephritis type II) in childhood is a rare glomerulonephritis with frequent progression to end-stage renal disease (ESRD) and a high recurrence after kidney transplantation. The pathophysiologic basis of DDD is associated with the uncontrolled systemic activation of the alternative pathway (AP) of the complement cascade. CASE-DIAGNOSIS/TREATMENT: A 14-year-old girl presented with edema and nephrotic range proteinuria. Blood tests showed hypoalbuminemia, nephrotic range proteinuria, normal renal function, and a low C3 level. Renal biopsy confirmed the diagnosis of crescentic DDD. Complement analysis revealed strong AP activation (low C3), positive C3 nephritic factor (C3NeF), and a decreased complement factor H (CFH) levels with CFH polymorphisms. Therapy with eculizumab was considered after the failure of corticosteroid and plasmapheresis to modulate the ongoing massive proteinuria and persistence of low serum C3 levels. There was a marked clinical and biochemical response following the administration of eculizumab. CONCLUSIONS: Our case emphasizes the efficacy of eculizumab in the management of crescentic DDD in a patient with a normal renal function, in a short follow-up period. Considering previously reported cases, it appears that eculizumab represents a promising new approach which may prevent progression to ESRD in a subset of patients with DDD.

Effect of free creatine therapy on cisplatin-induced renal damage.

Abstract Cisplatin is one of the commonly used anticancer drugs and nephrotoxicity limits its use. The aim of this study is to investigate the possible protective effect of creatine supplementation on cisplatin-induced nephrotoxicity. Sixty male Sprague-Dawley rats were divided into three groups: Group I: Cisplatin (n=20) (7 mg/kg cisplatin intraperitoneal (i.p.) single dose), group II: Cisplatin+creatine monohydrate (n=20) (7 mg/kg cisplatin i.p. single dose and 300 mg/kg creatine p.o. daily for 30 days starting on first day of cisplatin injection), group III: Control group (n=20) (Serum physiologic, 2.5 mL/kg i.p.). Sacrifications were performed at first week and 30th day. Blood urea nitrogen (BUN) and serum creatinine levels, histopathological evaluation, mitochondrial deoxyribonucleic acid (mtDNA) common deletion rates, and body weights of rats were evaluated. A significant decrease in body weight, higher values of kidney function tests, histopathological scores, and mtDNA deletion ratios were observed in group I compared to control group at days 7 and 30 (p<0.05). In group II, there was a slight decrease in body weight at same days (p=0.931 and 0.084, respectively). Kidney function tests, histopathological scores, and mtDNA common deletion ratios were statistically better in group II than group I at 7th and 30th day (p<0.05). Although creatine significantly reversed kidney functions and pathological findings, this improvement was not sufficient to reach normal control group's results at days 7 and 30. In conclusion, the present study demonstrates that creatine administration is a promising adjuvant protective drug for reducing nephrotoxic effect of cisplatin.

Evaluation of treatment response by multiparametric MR imaging in locally advanced rectal tumors following neoadjuvant chemotherapy.

PURPOSE: To investigate the effectiveness of multiparametric MRI examination in determining tumor response after neoadjuvant chemoradiotherapy (CRT) in locally advanced rectal tumors. METHODS: 46 patients with locally advanced rectal adenocarcinoma were included and were divided into two groups as complete responders and nonresponders based on Mandard score. On MRI, relative T2w signal intensity and ADC values obtained before and after treatment and tumour volumes in dynamic contrast enhanced images (DCI) were used to determine complete response to treatment. RESULTS: There were no significant differences between mean ADC values obtained by single slice ADC and three circular ROI methods. There were significant differences between two groups in terms of Post-CRT ADC value, ΔADC and %ΔADC obtained by whole tumour volume ADC method (p < 0.05). There were significant differences between Pre-CRT and Post-CRT volume values. ΔV DCI and %ΔV DCI, ΔV ADC and T2w volume values were significantly lower in complete responders (p < 0.05). In multivariate analysis, sensitivity and specificity were calculated as 88.9% and 91.9% (AUC = 0.943) when Post-CRT mean ADC value and Post-CRT DCI volume values were used together, and sensitivity and specificity were calculated as 88.9% and 94.6% (AUC = 0.949) when ΔADC and Post-CRT DCI volume values were used together. CONCLUSION: Whole tumour volume mean ADC value is the most useful method to determine treatment response. Post-CRT DCI volume measurement stands out as the most useful method in assessing complete response alone. The highest diagnostic values are achieved when the post-CRT DCI volume is combined with the ADC change value of the whole tumor volume.

A First Report of Synchronous Intracapsular and Extracapsular Hepatic Adenoma.

Although the gallbladder is the most common site of ectopic liver, it has been reported in many other organs, such as kidney, adrenal glands, pancreas, omentum, stomach, esophagus, mediastinum, lungs, and heart. Hepatocytes in an ectopic liver behave like normal hepatocytes; furthermore, they can be associated with the same pathological findings as those in the main liver. Ectopic liver in the gallbladder can undergo fatty change, hemosiderosis, cholestasis, cirrhosis, hemangioma, focal nodular hyperplasia, adenoma, and even carcinogenesis. The incidence of extracapsular hepatic adenoma is not known, but only two cases have been reported. Here, we provide the first case report of synchronous multiple intracapsular and extracapsular hepatic adenomas. A 60-year-old woman with multiple hepatic adenomas and one 7 × 5 × 5 cm ectopic hepatic adenoma attached to the gallbladder fundus complicated with abdominal pain is presented.

The risk of tumor cell dissemination in mediastinoscopy: a cytological study.

BACKGROUND/AIM: Mediastinoscopy is an invasive procedure that is used in the diagnosis of mediastinal diseases and in staging lung cancer. Tumor cell seeding during mediastinoscopy along the mediastinum and the incision line is a very rare complication. This study aimed to test the safety of mediastinoscopy in terms of tumor seeding by cytological evaluation of mediastinal lavage samples taken before and after biopsy. MATERIALS AND METHODS: The patients who underwent mediastinoscopy in our hospital between 2011 and 2014 were studied prospectively. Seventy-three patients with a diagnosis of lung or mediastinal malignancy were included in the study. All patients underwent classical cervical mediastinoscopy and mediastinal lavages were taken before and after the biopsy. Both lavage samples were sent to the pathology department in syringes for malignant cell cytology screening. RESULTS: The results of the histopathological examinations of lymph node biopsies were reactive in 25 patients and positive for malignancy in 48 patients. In 2 of 48 patients whose lymph nodes were reported to be positive for malignancy, the mediastinal lavage sample was reported to be positive for malignancy after biopsy, although it was negative preoperatively. In two patients, both the pre- and postbiopsy lavage samples were reported to be positive for malignancy. CONCLUSION: While performing dissection and biopsy during mediastinoscopy, tumor seeding into the mediastinum may occur. Long follow-up periods and large patient series are needed to determine how cytopathological examination of both fluids would affect the prognosis.