WOS
Permanent URI for this collectionhttps://hdl.handle.net/11443/932
Browse
3 results
Search Results
Item High-resolution Whole-Genome Analysis of Skull Base Chordomas Implicates FHIT Loss in Chordoma Pathogenesis(NEOPLASIA PRESS, 2012-01-01) Diaz, Roberto Jose; Guduk, Mustafa; Romagnuolo, Rocco; Smith, Christian A.; Northcott, Paul; Shih, David; Berisha, Fitim; Flanagan, Adrienne; Munoz, David G.; Cusimano, Michael D.; Pamir, M. Necmettin; Rutka, James T.Chordoma is a rare tumor arising in the sacrum, clivus, or vertebrae. It is often not completely resectable and shows a high incidence of recurrence and progression with shortened patient survival and impaired quality of life. Chemo-therapeutic options are limited to investigational therapies at present. Therefore, adjuvant therapy for control of tumor recurrence and progression is of great interest, especially in skull base lesions where complete tumor resection is often not possible because of the proximity of cranial nerves. To understand the extent of genetic instability and associated chromosomal and gene losses or gains in skull base chordoma, we undertook whole-genome single-nucleotide polymorphism microarray analysis of flash frozen surgical chordoma specimens, 21 from the clivus and 1 from C1 to C2 vertebrae. We confirm the presence of a deletion at 9p involving CDKN2A, CDKN2B, and MTAP but at a much lower rate (22\%) than previously reported for sacral chordoma. At a similar frequency (21\%), we found aneuploidy of chromosome 3. Tissue microarray immunohistochemistry demonstrated absent or reduced fragile histidine triad (FHIT) protein expression in 98\% of sacral chordomas and 67\% of skull base chordomas. Our data suggest that chromosome 3 aneuploidy and epigenetic regulation of FHIT contribute to loss of the FHIT tumor suppressor in chordoma. The finding that FHIT is lost in a majority of chordomas provides new insight into chordoma pathogenesis and points to a potential new therapeutic target for this challenging neoplasm. Neoplasia (2012) 14, 788-798Item Microsurgical and Functional Linguistic Anatomy of Cerebral Basal Ganglia(GALENOS PUBL HOUSE, 2020-01-01) Guduk, Mustafa; Cirak, Musa; Bozkurt, Baran; Yagmurlu, KaanIntroduction: The central core of the cerebral hemispheres is located on the medial side of the insular cortex. It is made up of basal ganglia and white matter tracts. The basal ganglia and their white matter connections serve important motor, sensorial, psychological, endocrinological and cognitive functions. Insular gliomas and other deeply located lesions can cause severe morbidity by affecting the basal ganglia and their connections. Hence, a thorough understanding of the anatomy of that area is needed for surgical planning on the insular area. Methods: We dissected and photographed the insular cortex and basal ganglia in five human cadavers via white matter dissection techniques from lateral to medial side. Results: The structures and connections of the insular cortex and basal ganglia are documented and presented with their functional correlations during the dissections. Conclusion: Our results will guide the strategy and planning of surgery for the insula and basal ganglia. Additionally, they will be helpful in the follow-up and prediction of morbidities of lesions located in that area.Item Pituitary Colloid Cyst(LIPPINCOTT WILLIAMS \& WILKINS, 2017-01-01) Guduk, Mustafa; Sun, Halil Ibrahim; Sav, Murat Aydin; Berkman, ZaferColloid cysts appear most commonly in the third ventricle, their occurrence in the sellar region is uncommon. The authors report a female patient with a pituitary colloid cyst. She was diagnosed incidentally with a sellar lesion by a routine paranasal computed tomography examination performed for planning of a dental implant surgery. Radiologic examinations revealed a pituitary lesion that was removed by transnasal transsphenoidal route. Her pathologic examination revealed that the lesion was a colloid cyst. Although rare, colloid cysts should be considered in the differential diagnosis of pituitary lesions