Tuberous Sclerosis Complex Research

BACKGROUND: Interferon alfa is widely used for metastatic renal-cell carcinoma but has limited efficacy and tolerability. Temsirolimus, a specific inhibitor of the mammalian target of rapamycin kinase, may benefit patients with this disease. METHODS: In this multicenter, phase 3 trial, we randomly assigned 626 patient…

• ERHAN GÖKMEN

PURPOSE: Focal cortical dysplasias (FCD) are localized regions of malformed cerebral cortex and are very frequently associated with epilepsy in both children and adults. A broad spectrum of histopathology has been included in the diagnosis of FCD. An ILAE task force proposes an international consensus classification s…

• ÇİĞDEM ÖZKARA

PURPOSE: By incorporating major developments in genetics, ophthalmology, dermatology, and neuroimaging, to revise the diagnostic criteria for neurofibromatosis type 1 (NF1) and to establish diagnostic criteria for Legius syndrome (LGSS). METHODS: We used a multistep process, beginning with a Delphi method involving gl…

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• ALPER SOYLU

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• FATİH ÖZALTIN

Among tumors classified as pilocytic astrocytoma (PA) in the Johns Hopkins Hospital Department of Pathology files, we identified 18 cases with a distinctive monomorphous pilomyxoid histological pattern and a higher recurrence rate than that of PA with classical histological features (classical PA). The majority of the…

A unique renal neoplasm characterized by eosinophilic cytoplasm and solid and cystic growth was recently reported in patients with tuberous sclerosis complex (TSC). We searched multiple institutional archives and consult files in an attempt to identify a sporadic counterpart. We identified 16 morphologically identical…

• ASLI YILMAZ

OBJECTIVE: The purpose of this pictorial essay is to identify different types of liver lesions that contain fat. Cross-sectional imaging findings of fat- or lipid-containing lesions can help in characterizing focal liver lesions. We searched our archive retrospectively and reviewed the literature for fat-containing li…

Eosinophilic solid and cystic renal cell carcinoma (ESC RCC) has been recently described as a unique and indolent renal neoplasm, found in female patients with and without tuberous sclerosis complex. Although ESC RCC has a distinct morphology and frequent CK20 reactivity, its molecular karyotype has been previously st…

• ASLI YILMAZ

Lhermitte-Duclos disease (LDD) is a rare cerebellar tumor associated with Cowden disease (CD) and germline mutations in the PTEN gene. To further define these relationships, we reviewed clinical and pathologic findings in 31 LDD cases and analyzed the status of the PTEN pathway in 11 of them. We hypothesized that the…

PURPOSE: The detection of small renal masses is increasing with the use of cross-sectional imaging, although many incidental lesions have negligible metastatic potential. Among malignant masses clear cell renal cell carcinoma is the most prevalent and aggressive subtype. A method to identify such histology would aid i…

• ERSİN KÖSEOĞLU

AIM: To evaluate problematic diagnostic features in renal oncocytoma. METHODS AND RESULTS: One hundred and nine cases of oncocytoma were reviewed and the problematic gross and microscopic features recorded. Multifocal and bilateral neoplasms were found in 12 (11%) and five (4.6%) cases, respectively. Haemorrhage was s…

• ASLI YILMAZ