Anaplastic PXA in adults: case series with clinicopathologic and molecular features
| Autor: | Denise Damek, Kevin O. Lillehei, Dara L. Aisner, Bette K. Kleinschmidt-DeMasters, Yao Schmidt |
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| Rok vydání: | 2012 |
| Předmět: |
Adult
Male Proto-Oncogene Proteins B-raf Cancer Research Pathology medicine.medical_specialty IDH1 Adolescent Green Fluorescent Proteins Biology Astrocytoma Polymerase Chain Reaction Article Immunoenzyme Techniques Young Adult medicine Carcinoma Humans Young adult Survival rate Aged Pleomorphic xanthoastrocytoma Brain Neoplasms Middle Aged medicine.disease Prognosis Survival Rate Neurology Oncology Mutation (genetic algorithm) Mutation Immunohistochemistry Female Neurology (clinical) Neoplasm Recurrence Local Follow-Up Studies |
| Zdroj: | Journal of neuro-oncology. 111(1) |
| ISSN: | 1573-7373 |
| Popis: | Pleomorphic xanthoastrocytomas with anaplastic features (PXA-As) are rare tumors about which little is known regarding clinicopathologic and molecular features. Several studies have identified BRAF V600E mutations in PXA-As, but the percentage with mutation may differ between adult and pediatric examples, and limited information exists about immunohistochemistry for isocitrate dehydrogenase 1 (IDH1). Ten cases of adult PXA-As seen at our institution since 2000 were assessed for BRAF V600E mutation by polymerase chain reaction testing (PCR) and IDH1 by immunohistochemistry. Patients ranged in age from 18–68 years; four PXA-As affected temporal lobe and two were cystic. Four patients underwent gross total resection and 9 of 10 patients received cranial irradiation and/or adjuvant chemotherapy. Five survived less than 5 years, although 2 of 5 patients died from non-tumor causes. Four long-term survivors are alive at 7.5, 9.8, 11.4, and 11.9 years post-diagnosis. Two of four long term survivors had BRAF V600E mutation: patients were ages 18 and 28 years. A 48-year-old male without BRAF mutation survives at 9.8 years, even with thalamic location; conversely a 68-year-old female with temporal lobe tumor and BRAF mutation survived 1.9 years after diagnosis. All tumors were IDH1 immunonegative. This case series details clinicopathologic features of a subset of rare PXA-As in adults. BRAF V600E mutation was identified in 50 % of these cases. |
| Databáze: | OpenAIRE |
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