PMID- 26597605 OWN - NLM STAT- MEDLINE DCOM- 20160929 LR - 20151218 IS - 1773-0619 (Electronic) IS - 0028-3770 (Linking) VI - 61 IP - 6 DP - 2015 Dec TI - Adult recurrent pilocytic astrocytoma: Clinical, histopathological and molecular study. PG - 392-7 LID - S0028-3770(15)00246-5 [pii] LID - 10.1016/j.neuchi.2015.07.002 [doi] AB - BACKGROUND: PA is a grade I glial tumor that mostly occurs in children. However, although apparently similar to paediatric PA, adult PA presents a different clinical follow-up that could arise from specific molecular alterations. A variety of genetic alterations have been identified as diagnostic or prognostic glioma molecular markers. MATERIAL AND METHODS: We describe a right infratentorial tumor that occurred in a 58-year-old man. Neuroimaging and neuropathological examination suggested PA as an initial diagnosis. The tumor was completely resected. Unexpectedly, two years later, a rapidly growing tumor on the operative site was observed with a second location in the pineal region. Immunohistochemical reactions (IHC), Multiplex ligation probe amplification (MLPA) and fluorescence in situ hybridization (FISH) was performed in both primary and relapse tumor. RESULTS: Neuroimaging and neuropathological examinations suggested an unusual diagnosis for adult patients: a recurrent PA. Both MLPA and FISH analysis contribute to diagnostic confirmation by KIAA1549: BRAF fusion detection. Additional genetic results revealed interesting findings that justified the tumor aggressivity. CONCLUSION: Molecular analysis of adult PA cases should be routinely combined with histopathological and neuroimaging examination to further refine prognostic diagnoses. CI - Copyright (c) 2015 Elsevier Masson SAS. All rights reserved. FAU - Trabelsi, S AU - Trabelsi S AD - Department of Cytogenetics, Molecular genetics and Reproductive Biology, Farhat Hached University Hospital, Street Ibn Eljazzar, 4000 Sousse, Tunisia. Electronic address: tsaoussen@yahoo.fr. FAU - Mama, N AU - Mama N AD - Department of Imagery, Sahloul University Hospital, Sousse, Tunisia. FAU - Ladib, M AU - Ladib M AD - Department of Neurosurgery, Sahloul University Hospital, Sousse, Tunisia. FAU - Popov, S AU - Popov S AD - Divisions of Molecular Pathology and Cancer Therapeutics, the Institute of Cancer Research, Sutton, United Kingdom. FAU - Burford, A AU - Burford A AD - Divisions of Molecular Pathology and Cancer Therapeutics, the Institute of Cancer Research, Sutton, United Kingdom. FAU - Mokni, M AU - Mokni M AD - Department of Cytopathology, Farhat Hached University Hospital, Sousse, Tunisia. FAU - Tlili, K AU - Tlili K AD - Department of Imagery, Sahloul University Hospital, Sousse, Tunisia. FAU - Krifa, H AU - Krifa H AD - Department of Neurosurgery, Sahloul University Hospital, Sousse, Tunisia. FAU - Varella-Garcia, M AU - Varella-Garcia M AD - University of Colorado Denver School of Medicine, Division of Medical Oncology, Colorado, USA. FAU - Jones, C AU - Jones C AD - Divisions of Molecular Pathology and Cancer Therapeutics, the Institute of Cancer Research, Sutton, United Kingdom. FAU - Tahar Yacoubi, M AU - Tahar Yacoubi M AD - Department of Cytopathology, Farhat Hached University Hospital, Sousse, Tunisia. FAU - Saad, A AU - Saad A AD - Department of Cytogenetics, Molecular genetics and Reproductive Biology, Farhat Hached University Hospital, Street Ibn Eljazzar, 4000 Sousse, Tunisia. FAU - H'mida Ben Brahim, D AU - H'mida Ben Brahim D AD - Department of Cytogenetics, Molecular genetics and Reproductive Biology, Farhat Hached University Hospital, Street Ibn Eljazzar, 4000 Sousse, Tunisia. LA - eng PT - Case Reports PT - Journal Article DEP - 20151117 PL - France TA - Neurochirurgie JT - Neuro-Chirurgie JID - 0401057 SB - IM MH - Astrocytoma/*diagnosis MH - Humans MH - Infratentorial Neoplasms/*diagnosis MH - Male MH - Middle Aged MH - Molecular Diagnostic Techniques MH - Neoplasm Recurrence, Local/*diagnosis OTO - NOTNLM OT - Adult OT - Adulte OT - Astrocytome pilocytique OT - Gene de fusion KIAA1549:BRAF OT - KIAA1549:BRAF fusion OT - Pilocytic astrocytoma OT - Recurrence OT - Recidive EDAT- 2015/11/26 06:00 MHDA- 2016/09/30 06:00 CRDT- 2015/11/25 06:00 PHST- 2015/03/14 00:00 [received] PHST- 2015/06/09 00:00 [revised] PHST- 2015/07/29 00:00 [accepted] PHST- 2015/11/25 06:00 [entrez] PHST- 2015/11/26 06:00 [pubmed] PHST- 2016/09/30 06:00 [medline] AID - S0028-3770(15)00246-5 [pii] AID - 10.1016/j.neuchi.2015.07.002 [doi] PST - ppublish SO - Neurochirurgie. 2015 Dec;61(6):392-7. doi: 10.1016/j.neuchi.2015.07.002. Epub 2015 Nov 17.