Adult with cerebellar anaplastic pilocytic astrocytoma associated with BRAF v600e mutation and p16 loss

Clinical Neuropathology

Volumn 32, Issue 3, 2013, Pages 159-164

  Yeo, Yee Hui ^a   Byrne, Nicholas P ^b   Counelis, George J ^c   Perry, Arie ^d  

^a NATIONAL DEFENSE MEDICAL CENTER   (Taiwan)

^b Contra Costa Pathology Associates ^*  (Taiwan)

^c John Muir Medical Center   (United States)

^d UNIVERSITY OF CALIFORNIA   (United States)

Author keywords

Anaplastic; BRAF; Genetics; Malignancy; p16; Pilocytic astrocytoma

Indexed keywords

B RAF KINASE; GLIAL FIBRILLARY ACIDIC PROTEIN; PROTEIN P16; SYNAPTOPHYSIN;

ADULT; ANAPLASTIC PILOCYTIC ASTROCYTOMA; ARTICLE; ATAXIA; BRAIN EDEMA; BRAIN FOURTH VENTRICLE; CASE REPORT; CRANIAL NERVE; DISEASE DURATION; FLUORESCENCE IN SITU HYBRIDIZATION; GENE MUTATION; GLIOBLASTOMA; HEADACHE; HISTOPATHOLOGY; HUMAN; MALE; MEDICAL HISTORY; MITOSIS RATE; NERVE FUNCTION; NEUROFILAMENT; NEUROIMAGING; NUCLEAR MAGNETIC RESONANCE IMAGING; PHYSICAL EXAMINATION; PILOCYTIC ASTROCYTOMA; PRIORITY JOURNAL; REAL TIME POLYMERASE CHAIN REACTION;

ADULT; ASTROCYTOMA; CEREBELLAR NEOPLASMS; CYCLIN-DEPENDENT KINASE INHIBITOR P16; GENES, P16; HUMANS; IMMUNOHISTOCHEMISTRY; IN SITU HYBRIDIZATION, FLUORESCENCE; MALE; MUTATION; PROTO-ONCOGENE PROTEINS B-RAF; TUMOR MARKERS, BIOLOGICAL;

EID: 84877809987     PISSN: 07225091     EISSN: None     Source Type: Journal    
DOI: 10.5414/NP300564     Document Type: Article

References (29)

1. CBTRUS. CBTRUS Statistical Report: Primary brain tumors in the United States, 2004-2008.: Hinsdale, IL: Central Brain Tumor Registry of the United States; 2012.
2. Louis DNOH, Wiestler OD, Cavenee WK. WHO classification of tumors of the central nervous system. IARC Press; 2007. p. 14-21.
3. Burkhard C, Di Patre PL, Schüler D, Schüler G, Yaşargil MG, Yonekawa Y, Lütolf UM, Kleihues P, Ohgaki H. A population-based study of the incidence and survival rates in patients with pilocytic astrocytoma. J Neurosurg. 2003; 98: 1170-1174.
4. Ohgaki HKP, Kleihues P. Population-based studies on incidence, survival rates, and genetic alterations in astrocytic and oligodendroglial gliomas. J Neuropathol Exp Neurol. 2005; 64: 479-489.
5. Tibbetts KM, Emnett RJ, Gao F, Perry A, Gutmann DH, Leonard JR. Histopathologic predictors of pilocytic astrocytoma event-free survival. Acta Neuropathol. 2009; 117: 657-665.
6. Privett BJ, Liubinas SV, Tsui A, Gonzales M, Lo P. Pilocytic astrocytoma with neoplastic gemistocytes undergoing spontaneous transformation to glioblastoma multiforme without prior radiotherapy. J Clin Neurosci. 2011; 18: 705-707.
7. Shibahara I, Kawaguchi T, Kanamori M, Yonezawa S, Takazawa H, Asano K, Ohkuma H, Kaimori M, Sasaki T, Nishijima M. Pilocytic astrocytoma with histological malignant features without previous radiation therapy - case report. Neurol Med Chir (Tokyo). 2011; 51: 144-147.
8. Rodriguez FJ, Scheithauer BW, Burger PC, Jenkins S, Giannini C. Anaplasia in pilocytic astrocytoma predicts aggressive behavior. Am J Surg Pathol. 2010; 34: 147-160.
9. van der Wal EJ, Azzarelli B, Edwards-Brown M. Malignant transformation of a chiasmatic pilocytic astrocytoma in a patient with diencephalic syndrome. Pediatr Radiol. 2003; 33: 207-210.
10. Tsuda K, Ishikawa E, Saito A, Satomi K, Sakata A, Takano S, Morishita Y, Noguchi M, Matsumura A. Primary cerebellar pilocytic astrocytoma with anaplastic features in a patient with neurofibromatosis type 1 - case report. Neurol Med Chir (Tokyo). 2011; 51: 315-318.
11. Hsieh MS, Ho JT, Lin LW, Tu PH, Perry A, Huang AP. Cerebellar anaplastic pilocytic astrocytoma in a patient of neurofibromatosis type-1: Case report and review of the literature. Clin Neurol Neurosurg. 2012; 114: 1027-1029.
12. Lach B, Al Shail E, Patay Z. Spontaneous anaplasia in pilocytic astrocytoma of cerebellum. Br J Neurosurg. 2003; 17: 250-252.
13. Tomlinson FH, Scheithauer BW, Hayostek CJ, Parisi JE, Meyer FB, Shaw EG, Weiland TL, Katzmann JA, Jack Jr CR. The significance of atypia and histologic malignancy in pilocytic astrocytoma of the cerebellum: a clinicopathologic and flow cytometric study. J Child Neurol. 1994; 9: 301-310.
14. Stüer C, Vilz B, Majores M, Becker A, Schramm J, Simon M. Frequent recurrence and progression in pilocytic astrocytoma in adults. Cancer. 2007; 110: 2799-2808.
15. Ellis JA, Waziri A, Balmaceda C, Canoll P, Bruce JN, Sisti MB. Rapid recurrence and malignant transformation of pilocytic astrocytoma in adult patients. J Neurooncol. 2009; 95: 377-382.
16. Azad A, Deb S, Cher L. Primary anaplastic pilocytic astrocytoma. J Clin Neurosci. 2009; 16: 1704-1706.
17. Parsa CF, Givrad S. Juvenile pilocytic astrocytomas do not undergo spontaneous malignant transformation: grounds for designation as hamartomas. Br J Ophthalmol. 2008; 92: 40-46.
18. Schindler G, Capper D, Meyer J, Janzarik W, Omran H, Herold-Mende C, Schmieder K, Wesseling P, Mawrin C, Hasselblatt M, Louis DN, Korshunov A, Pfister S, Hartmann C, Paulus W, Reifenberger G, von Deimling A. Analysis of BRAF V600E mutation in 1,320 nervous system tumors reveals high mutation frequencies in pleomorphic xanthoastrocytoma, ganglioglioma and extra-cerebellar pilocytic astrocytoma. Acta Neuropathol. 2011; 121: 397-405.
19. Badiali M, Gleize V, Paris S, Moi L, Elhouadani S, Arcella A, Morace R, Antonelli M, Buttarelli FR, Figarella-Branger D, Kim YH, Ohgaki H, Mokhtari K, Sanson M, Giangaspero F. KIAA1549-BRAF Fusions and IDH Mutations Can Coexist in Diffuse Gliomas of Adults. Brain Pathol. 2012.
20. Kim YH, Nonoguchi N, Paulus W, Brokinkel B, Keyvani K, Sure U, Wrede K, Mariani L, Giangaspero F, Tanaka Y, Nakazato Y, Vital A, Mittelbronn M, Perry A, Ohgaki H. Frequent BRAF Gain in Low-Grade Diffuse Gliomas with 1p/19q Loss. Brain Pathol. 2012.
21. Cheng Y, Pang JC, Ng HK, Ding M, Zhang SF, Zheng J, Liu DG, Poon WS. Pilocytic astrocytomas do not show most of the genetic changes commonly seen in diffuse astrocytomas. Histopathology. 2000; 37: 437-444.
22. Nishikawa R, Furnari FB, Lin H, Arap W, Berger MS, Cavenee WK, Su Huang HJ. Loss of P16INK4 expression is frequent in high grade gliomas. Cancer Res. 1995; 55: 1941-1945.
23. Schmidt EE, Ichimura K, Reifenberger G, Collins VP. CDKN2 (p16/MTS1) gene deletion or CDK4 amplification occurs in the majority of glioblastomas. Cancer Res. 1994; 54: 6321-6324.
24. Rodriguez EF, Scheithauer BW, Giannini C, Rynearson A, Cen L, Hoesley B, Gilmer-Flynn H, Sarkaria JN, Jenkins S, Long J, Rodriguez FJ. PI3K/AKT pathway alterations are associated with clinically aggressive and histologically anaplastic subsets of pilocytic astrocytoma. Acta Neuropathol. 2011; 121: 407-420.
25. Raabe EH, Lim KS, Kim JM, Meeker A, Mao XG, Nikkhah G, Maciaczyk J, Kahlert U, Jain D, Bar E, Cohen KJ, Eberhart CG. BRAF activation induces transformation and then senescence in human neural stem cells: a pilocytic astrocytoma model. Clinical cancer research: an official journal of the American Association for Cancer Research. 2011; 17: 3590-3599.
26. Jacob K, Quang-Khuong DA, Jones DT, Witt H, Lambert S, Albrecht S, Witt O, Vezina C, Shirinian M, Faury D, Garami M, Hauser P, Klekner A, Bognar L, Farmer JP, Montes JL, Atkinson J, Hawkins C, Korshunov A, Collins VP et al. Genetic aberrations leading to MAPK pathway activation mediate oncogene-induced senescence in sporadic pilocytic astrocytomas. Clinical cancer research: an official journal of the American Association for Cancer Research. 2011; 17: 4650-4660.http:// www.ncbi.nlm.nih.gov/pubmed/21610151
27. Horbinski C, Nikiforova MN, Hagenkord JM, Hamilton RL, Pollack IF. Interplay among BRAF, p16, p53, and MIB1 in pediatric l ow-grade gliomas. Neuro-oncol. 2012; 14: 777-789.
28. Lang FF, Miller DC, Pisharody S, Koslow M, Newcomb EW. High frequency of p53 protein accumulation without p53 gene mutation in human juvenile pilocytic, low grade and anaplastic astrocytomas. Oncogene. 1994; 9: 949-954.
29. Ishii N, Sawamura Y, Tada M, Daub DM, Janzer RC, Meagher-Villemure M, de Tribolet N, Van Meir EG. Absence of p53 gene mutations in a tumor panel representative of pilocytic astrocytoma diversity using a p53 functional assay. Int J Cancer. 1998; 76: 797-800.