Rhabdoid glioblastoma is distinguishable from classical glioblastoma by cytogenetics and molecular genetics

作者: Sun-Ju Byeon , Hwa Jin Cho , Hae Woon Baek , Chul-Kee Park , Seung-Hong Choi

DOI: 10.1016/J.HUMPATH.2013.08.024

关键词:

摘要: Summary The clinicopathologic and molecular genetic features of 5 cases rhabdoid glioblastoma, an extremely rare variant glioblastoma that tends to affect patients at a young age, were investigated by immunohistochemical analysis focused studies including array-based comparative genomic hybridization. All had supratentorial tumors revealed be robustly positive for epithelial membrane antigen, vimentin, p53, PDGFR α (platelet-derived growth factor receptor, alpha polypeptide) but only focally glial fibrillary acidic protein. Although complete retention SMARCB1 ( INI1 ) was observed in all cases, epidermal receptor EGFR amplification, PTEN (phosphatase tensin homolog) loss, homozygous deletion cyclin-dependent kinase inhibitor 2A, 1p/19q codeletion, isocitrate dehydrogenase 1 R132/ IDH2 R172 mutation not any case, although high level polysomy detected recurrent tumor. c-MET (MET protein) expression focal 3 met proto-oncogene MET fluorescence situ hybridization low amplification. MGMT (O-6-methylguanine-DNA methyl-40 transferase) methylation–specific polymerase chain reaction methylation case. Furthermore, gain chromosome 7 loss 1p, 6, 8p, 11, 13q, 18q no 22. In contrast the classical subtype primary studied here characterized absence 9p overexpression , c-MET, suggesting they can classified as proneural or mesenchymal benefit from intensive therapy includes temozolomide.

参考文章(31)
C. Walker, K. A. Joyce, G. S. Rutherfoord, D. G. Du Plessis, Phenotypic and genotypic characterization of glioblastoma multiforme with epithelial differentiation and adenoid formations. Clinical Neuropathology. ,vol. 23, pp. 141- 148 ,(2004)
Ranjith Babu, Jeffrey Hatef, Roger E. McLendon, Thomas J. Cummings, John H. Sampson, Allan H. Friedman, Cory Adamson, Clinicopathological characteristics and treatment of rhabdoid glioblastoma. Journal of Neurosurgery. ,vol. 119, pp. 412- 419 ,(2013) , 10.3171/2013.3.JNS121773
Miao-Xia He, Jian-Jun Wang, Rhabdoid glioblastoma: case report and literature review. Neuropathology. ,vol. 31, pp. 421- 426 ,(2011) , 10.1111/J.1440-1789.2010.01166.X
Sun-ju Byeon, Jae Kyung Myung, Se Hoon Kim, Seung-Ki Kim, Ji Hoon Phi, Sung-Hye Park, Distinct genetic alterations in pediatric glioblastomas Childs Nervous System. ,vol. 28, pp. 1025- 1032 ,(2012) , 10.1007/S00381-012-1773-1
Ji Yeoun Lee, In-Kyeong Kim, Ji Hoon Phi, Kyu-Chang Wang, Byung-Kyu Cho, Sung-Hye Park, Hyo Seop Ahn, Il Han Kim, Seung-Ki Kim, None, Atypical teratoid/rhabdoid tumors: the need for more active therapeutic measures in younger patients Journal of Neuro-oncology. ,vol. 107, pp. 413- 419 ,(2012) , 10.1007/S11060-011-0769-0
Mee Joo, Sung-Hye Park, Sun Hee Chang, Hanseong Kim, Chan-Young Choi, Chae-Heuck Lee, Byung Hoon Lee, Yoon Joon Hwang, Cytogenetic and molecular genetic study on granular cell glioblastoma: a case report Human Pathology. ,vol. 44, pp. 282- 288 ,(2013) , 10.1016/J.HUMPATH.2012.07.022
Bomi Kim, Jae Kyung Myung, Ja Hee Seo, Chul-Kee Park, Sun Ha Paek, Dong Gyu Kim, Hee-Won Jung, Sung-Hye Park, The clinicopathologic values of the molecules associated with the main pathogenesis of the glioblastoma. Journal of the Neurological Sciences. ,vol. 294, pp. 112- 118 ,(2010) , 10.1016/J.JNS.2010.03.019
Bette Kay Kleinschmidt-DeMasters, Ali H. Alassiri, Diane K. Birks, Kathy L. Newell, Wayne Moore, Kevin O. Lillehei, Epithelioid versus rhabdoid glioblastomas are distinguished by monosomy 22 and immunohistochemical expression of INI-1 but not claudin 6. The American Journal of Surgical Pathology. ,vol. 34, pp. 341- 354 ,(2010) , 10.1097/PAS.0B013E3181CE107B
Min-Cheol Lee, Seung-Kyu Park, Joon-Sup Lim, Shin Jung, Jae-Hyoo Kim, Young-Jong Woo, Ji-Shin Lee, Hyung-Ihl Kim, Myung-Ja Jeong, Ha-Young Choi, Atypical teratoid/rhabdoid tumor of the central nervous system: clinico-pathological study. Neuropathology. ,vol. 22, pp. 252- 260 ,(2002) , 10.1046/J.1440-1789.2002.00458.X
Hiroyuki Momota, Kenichiro Iwami, Masazumi Fujii, Kazuya Motomura, Atsushi Natsume, Jiro Ogino, Tadashi Hasegawa, Toshihiko Wakabayashi, Rhabdoid glioblastoma in a child: case report and literature review. Brain Tumor Pathology. ,vol. 28, pp. 65- 70 ,(2011) , 10.1007/S10014-010-0010-4