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.
Subject(s)
Astrocytoma/diagnosis , Infratentorial Neoplasms/diagnosis , Neoplasm Recurrence, Local/diagnosis , Humans , Male , Middle Aged , Molecular Diagnostic TechniquesABSTRACT
INTRODUCTION: Smooth muscle tumors of the uterus are frequent. Most of them are benign. Some leiomyomas may have unusual morphologic features difficult to distinguish from leiomyosarcoma. These tumors are: cellular leiomyoma, atypical leiomyoma and mitotically active leiomyoma. OBJECTIVES: The purpose of our work is to study cases of leiomyosarcomas, cellular leiomyoma, atypical leiomyoma and mitotically active leiomyoma among a large series of uterine smooth muscle tumors. MATERIALS AND METHODS: We reviewed retrospectively 2760 uterine smooth muscle tumors. The slides were reviewed and the tumors reclassified according to the criteria of the WHO 2003 classification. Chi-square test or Fisher's exact were used for statistical analyses as appropriate. RESULTS: Review of the slides demonstrated: 12 mitotically active leiomyomas, 18 cellular leiomyomas, 20 atypical leiomyomas, 16 leiomysarcomas, only one case of smooth muscle tumor of uncertain malignant potential. The 2709 remaining tumors were all common leiomyomas. So mitotically active, cellular and atypical leiomyomas were as rare as the leiomyosarcomas. The average age of patients with leiomyomas was 39 years. That of patients with leiomyosarcomas was 54 years (p=0,000002). Average size of leiomyomas was 7.4cm. That of leiomyosarcomas was 10.2cm. The average age and size of the 3 studied variants of leiomyomas were identical to those of the common leiomyomas. Leiomyomas were unique in 60.9% of cases. On the other hand 87.5% of leiomyosarcomas had unique nodules (p=0,04).
