Massive dissemination from spinal cord gangliogliomas negative for BRAF V600E: Report of two rare adult cases

American Journal of Clinical Pathology

Volumn 142, Issue 2, 2014, Pages 254-260

  Lummus, Seth C ^a   Aisner, Dara L ^a   Sams, Sharon B ^a   Foreman, Nicholas K ^b   Lillehei, Kevin O ^c   Kleinschmidt DeMasters, B K ^a,c  

^a UNIVERSITY OF COLORADO SCHOOL OF MEDICINE   (United States)

^b CHILDREN S HOSPITAL COLORADO   (United States)

^c UNIVERSITY OF COLORADO   (United States)

Author keywords

Bone marrow; BRAF V600E; Ganglioglioma; Intramedullary; Metastasis; Spinal cord; VE1

Indexed keywords

ANTINEOPLASTIC AGENT; B RAF KINASE; BRAF V600E; TUMOR MARKER;

ADULT; ASSAY; AUTOPSY; BRAIN VENTRICLE PERITONEUM SHUNT; CASE REPORT; CHEMORADIOTHERAPY; CONFERENCE PAPER; FEMALE; GLIOMA; HUMAN; HUMAN TISSUE; IMMUNOHISTOCHEMISTRY; MENINGEAL CYST; METASTASIS; MIDDLE AGED; PANCYTOPENIA; SEQUENCE ANALYSIS; SPINAL CORD GANGLIOGLIOMA; ARTICLE; BONE MARROW; GENETICS; INTRAMEDULLARY; METHODOLOGY; MUTATION; NUCLEOTIDE SEQUENCE; SPINAL CORD; SPINAL CORD TUMOR; VE1;

BONE MARROW; BRAF V600E; GANGLIOGLIOMA; INTRAMEDULLARY; METASTASIS; SPINAL CORD; VE1;

ADULT; DNA MUTATIONAL ANALYSIS; FEMALE; GANGLIOGLIOMA; HUMANS; MIDDLE AGED; MUTATION; PROTO-ONCOGENE PROTEINS B-RAF; SPINAL CORD NEOPLASMS; TUMOR MARKERS, BIOLOGICAL;

EID: 84907215364     PISSN: 00029173     EISSN: 19437722     Source Type: Journal    
DOI: 10.1309/AJCPIBSV67UVJRQV     Document Type: Conference Paper

References (25)

1. Koelsche C, Wöhrer A, Jeibmann A, et al. Mutant BRAF V600E protein in ganglioglioma is predominantly expressed by neuronal tumor cells. Acta Neuropathol. 2013;125:891-900.
2. Miller D. Surgical pathology of intramedullary spinal cord neoplasms. J Neurooncol. 2000;47:189-194.
3. Schindler G, Capper D, Meyer J, et al. 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.
4. Bevilacqua G, Sarnelli R. Ganglioglioma of the spinal cord: a case with a long survival. Acta Neuropathol. 1979;48:239-242.
5. Jallo GI, Freed D, Epstein FJ. Spinal cord gangliogliomas: a review of 56 patients. J Neurooncol. 2004;68:71-77.
6. Jay V, Squire J, Becker LE, et al. Malignant transformation in a ganglioglioma with anaplastic neuronal and astrocytic components: report of a case with flow cytometric and cytogenetic analysis. Cancer. 1994;73:2862-2868.
7. Kalyan-Raman UP, Olivero WC. Ganglioglioma: a correlative clinicopathological and radiological study of ten surgically treated cases with follow-up. Neurosurgery. 1987;20:428-433.
8. Kitano M, Takayama S, Nagao T, et al. Malignant ganglioglioma of the spinal cord. Acta Pathol Jpn. 1987;37:1009-1018.
9. Rodewald L, Miller DC, Sciorra L, et al. Central nervous system neoplasm in a young man with Martin-Bell syndrome - fra(X)-XLMR. Am J Med Genet. 1987;26:7-12.
10. Schneider C, Vosbeck J, Grotzer MA, et al. Anaplastic ganglioglioma: a very rare intramedullary spinal cord tumor. Pediatr Neurosurg. 2012;48:42-47.
11. Bell WO, Packer RJ, Seigel KR, et al. Leptomeningeal spread of intramedullary spinal cord tumors: report of three cases. J Neurosurg. 1988;69:295-300.
12. Hukin J, Siffert J, Velasquez L, et al. Leptomeningeal dissemination in children with progressive low-grade neuroepithelial tumors. Neuro Oncol. 2002;4:253-260.
13. Winograd E, Pencovich N, Yalon M, et al. Malignant transformation in pediatric spinal intramedullary tumors: case-based update. Childs Nerv Syst. 2012;10:1679-1686.
14. Dougherty MJ, Santi M, Brose MS, et al. Activating mutations in BRAF characterize a spectrum of pediatric low-grade gliomas. Neuro Oncol. 2010;12:621-630.
15. Dahiya S, Haydon DH, Alvarado D, et al. BRAF(V600E) mutation is a negative prognosticator in pediatric ganglioglioma. Acta Neuropathol. 2013;125:901-910.
16. Quinn B. Synaptophysin staining in normal brain: importance for diagnosis of ganglioglioma. Am J Surg Pathol. 1998;22:550-556.
17. Quinn B. Synaptophysin staining for ganglioglioma. AJNR Am J Neuroradiol. 1999;20:526-529.
18. Miller DC, Koslow M, Budzilovich GN, et al. Synaptophysin: a sensitive and specific marker for ganglion cells in central nervous system neoplasms. Hum Pathol. 1990;21:271-276.
19. Wei B, Ding T, Xing Y, et al. Invasive neuroendocrine carcinoma of the breast: a distinctive subtype of aggressive mammary carcinoma. Cancer. 2010;116:4463-4473.
20. Kleinschmidt-DeMasters BK, Aisner DL, Birks DK, et al. Epithelioid GBMs show a high percentage of BRAF V600E mutation. Am J Surg Pathol. 2013;37:685-698.
21. Schmidt Y, Kleinschmidt-DeMasters BK, Aisner DL, et al. Anaplastic PXA in adults: case series with clinicopathologic and molecular features. J Neurooncol. 2013;111:59-69.
22. Sequist LV, Heist RS, Shaw AT, et al. Implementing multiplexed genotyping of non-small-cell lung cancers into routine clinical practice. Ann Oncol. 2011;22:2616-2624.
23. Su Z, Dias-Santagata D, Duke M, et al. A platform for rapid detection of multiple oncogenic mutations with relevance to targeted therapy in non-small-cell lung cancer. J Mol Diagn. 2011;13:74-84.
24. Ellezam B, Theeler BK, Walbert T, et al. Low rate of R132H IDH1 mutation in infratentorial and spinal cord grade II and III diffuse gliomas. Acta Neuropathol. 2012;124:449-451.
25. Horbinski C. What do we know about IDH1/2 mutations so far, and how do we use it? Acta Neuropathol. 2013;125:621-636.