S Trabelsi1, N Mama2, M Ladib3, S Popov4, A Burford4, M Mokni5, K Tlili2, H Krifa3, M Varella-Garcia6, C Jones4, M Tahar Yacoubi5, A Saad7, D H'mida Ben Brahim7. 1. Department of Cytogenetics, Molecular genetics and Reproductive Biology, Farhat Hached University Hospital, Street Ibn Eljazzar, 4000 Sousse, Tunisia. Electronic address: tsaoussen@yahoo.fr. 2. Department of Imagery, Sahloul University Hospital, Sousse, Tunisia. 3. Department of Neurosurgery, Sahloul University Hospital, Sousse, Tunisia. 4. Divisions of Molecular Pathology and Cancer Therapeutics, the Institute of Cancer Research, Sutton, United Kingdom. 5. Department of Cytopathology, Farhat Hached University Hospital, Sousse, Tunisia. 6. University of Colorado Denver School of Medicine, Division of Medical Oncology, Colorado, USA. 7. Department of Cytogenetics, Molecular genetics and Reproductive Biology, Farhat Hached University Hospital, Street Ibn Eljazzar, 4000 Sousse, Tunisia.
Abstract
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.
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.