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2014 ; 16
(6
): 841-7
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Adult pilocytic astrocytomas: clinical features and molecular analysis
#MMPMID24470550
Theeler BJ
; Ellezam B
; Sadighi ZS
; Mehta V
; Tran MD
; Adesina AM
; Bruner JM
; Puduvalli VK
Neuro Oncol
2014[Jun]; 16
(6
): 841-7
PMID24470550
show ga
BACKGROUND: Adult pilocytic astrocytomas (PAs) are rare and have an aggressive
clinical course compared with pediatric patients. Constitutive Ras/RAF/MAPK
signaling appears to be an important oncogenic event in sporadic PA. We evaluated
clinical data and molecular profiles of adult PAs at our institution. METHODS: We
identified 127 adult PAs in our institutional database. Cases with available
tissue were tested for BRAF-KIAA1549 fusion/duplication (B-K fusion) by
fluorescence in situ hybridization and submitted for mutation profiling using the
Sequenom mutation profiling panel. Subgroup analyses were performed based on
clinical and molecular data. RESULTS: The majority of adult PAs are
supratentorial. Twenty-two percent of cases had an initial pathologic diagnosis
discordant with the diagnosis made at our institution. Recurrence was seen in 42%
of cases, and 13% of patients died during follow-up. Adjuvant radiotherapy
following surgical resection was associated with a statistically significant
decrease in progression-free survival (P = .004). B-K fusion was identified in
20% (9 of 45) of patients but was not associated with outcome. No BRAF V600E
mutations (0 of 40 tested) were found. CONCLUSION: This was the largest single
institution series of adult PA. A significant proportion of adult PAs follow an
aggressive clinical course. Our results support a period of observation following
biopsy or surgical resection. B-K fusion in adult PA does not influence outcome,
and BRAF V600E mutation appears to be a very rare event. Further study of tumor
biology and optimal treatment is needed, given a more aggressive clinical
behavior.