Adult recurrent pilocytic astrocytoma: Clinical, histopathological and molecular study
| Autor: | Tahar Yacoubi, D. H’mida Ben Brahim, Saoussen Trabelsi, Ali Saad, Chris Jones, Kalthoum Tlili, Nadia Mama, M. Mokni, H. Krifa, Sergey Popov, Anna Burford, Marileila Varella-Garcia, Mohamed Ladib |
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| Rok vydání: | 2015 |
| Předmět: |
Male
Pathology medicine.medical_specialty medicine.diagnostic_test Pilocytic astrocytoma business.industry Astrocytoma Infratentorial Neoplasms Glial tumor Middle Aged medicine.disease Molecular Diagnostic Techniques Glioma Infratentorial Neoplasm medicine Immunohistochemistry Humans Surgery Neurology (clinical) Multiplex ligation-dependent probe amplification Neoplasm Recurrence Local business Fluorescence in situ hybridization |
| Zdroj: | Neuro-Chirurgie. 61(6) |
| ISSN: | 1773-0619 |
| Popis: | 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. |
| Databáze: | OpenAIRE |
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