Abstract
The occurrence of cerebral pleomorphic xanthoastrocytoma (PXA) in individuals with neurofibromatosis type 1 (NF1) is very rare. We present a 10-year-old Nigerian boy with NF1 who was found to harbor a thalamic-lateral ventricular solid mass lesion whose histologic and immunohistochemical findings were in keeping with PXA. We also carried out an updated review of the PXA-NF1 literature and found only eight previous reports of this clinical disease association. These reports have been limited to only certain regions of the world, with none yet reported from Africa, South America, Australia, and Eastern Europe. As far as we know, this might be the first such report from Africa. The case we present, in addition, demonstrated some other unique clinical, radiological, and histopathologic characteristics which have been highlighted in this review.
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Jens Schittenhelm, Tuebingen, Germany
Astrocytomas comprise a heterogenous group of tumors, of which pleomorphic astrocytomas (PXA) are one of the rarest tumors encountered in pathology practice. The WHO classification of brain tumors separates PXA from diffuse astrocytomas, pilocytic astrocytomas, and the tuberous sclerosis complex-associated subependymal giant cell astrocytoma. The recent detection of BRAF V600E point mutations in pleomorphic xanthoastrocytomas confirmed that these tumors not only contain an unusual histological appearance but also are genetically distinct from the other astrocytomas [1]. Interestingly, both tumor entities—the pilocytic astrocytoma and PXA—not only share mutations of the BRAF gene but also are known to appear in the setting of neurofibromatosis type 1. This points towards a common role of a disturbed mitogen-activated protein kinase pathway in both entities [2]. Therefore, a detailed genetic analysis of tumor tissue from cases such as the one reported above might be helpful to further clarify the functional role of NF1 mutations in these unusual tumors.
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2. Jacob K, Quang-Khuong DA, Jones DT, Witt H, Lambert S, Albrecht S, Witt O, Vezina C, Shirinian M, Faury D, Garami M, Hauser P, Klekner A, Bognar L, Farmer JP, Montes JL, Atkinson J, Hawkins C, Korshunov A, Collins VP, Pfister SM, Tabori U, Jabado N. Genetic aberrations leading to MAPK pathway activation mediateoncogene—induced senescence in sporadicpilocyticastrocytomas. Clin Cancer Res. 2011 Jul 15; 17(14):4650–60.
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Adeleye, A.O., Okolo, C.A., Akang, E.E. et al. Cerebral pleomorphic xanthoastrocytoma associated with NF1: an updated review with a rare atypical case from Africa. Neurosurg Rev 35, 313–319 (2012). https://doi.org/10.1007/s10143-011-0362-1
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DOI: https://doi.org/10.1007/s10143-011-0362-1