A novel TP53 somatic mutation involved in the pathogenesis of pediatric choroid plexus carcinoma
| Autor: | Sheng-Qing Lv, Hai-Feng Shu, Jian-Ping Xu, Zheng Zhou, Ning An, Qi-Lin Huang, Ye-Chun Song, Hui Yang |
|---|---|
| Jazyk: | angličtina |
| Rok vydání: | 2012 |
| Předmět: |
Male
Pathology medicine.medical_specialty Choroid Plexus Neoplasms Central nervous system macromolecular substances immunohistochemical stain (IHC) Biology Pathogenesis Cerebrospinal fluid Germline mutation Fatal Outcome medicine Neoplasm Humans somatic mutation TP53 Germ-Line Mutation Case Study General Medicine Choroid plexus carcinoma medicine.disease Genes p53 Immunohistochemistry medicine.anatomical_structure choroid plexus carcinoma (CPC) Child Preschool Choroid Plexus Neoplasm |
| Zdroj: | Medical Science Monitor : International Medical Journal of Experimental and Clinical Research |
| ISSN: | 1643-3750 1234-1010 |
| Popis: | Summary Background Choroid plexus carcinoma (CPC) is an uncommon, aggressive, malignant, central nervous system neoplasm that typically occurs in children, presenting with the signs and symptoms of intracranial hypertension and cerebrospinal fluid obstruction. Case Report We report the case of a 2.5-year-old girl with CPC. The tumor was subtotally removed by microsurgery, followed by gamma knife radiosurgery for the residual lesion. H&E staining indicated that this was a rare case of CPC. Neuropathological studies, assayed by immunohistochemical staining, showed that the tumor sample was positive to antibodies against S-100, CgA, AE1/AE3 (cytokeratin), Ki-67, INI1 and TP53, and was negative to antibodies against Nestin, GFAP, CD133, EMA and AFP. Moreover, stainings for transthyretin and vimentin were focally positive. Interestingly, direct DNA sequencing of the paraffin-embedded tumor sample identified a novel R248Q mutation in the TP53 gene. In contrast to previous reports suggesting that TP53 germline mutations were associated with the pathogenesis of CPC, here we provide a rare case of CPC with TP53 somatic mutation, as evidence that the peritumoral tissue possesses the non-mutant TP53 allele. Conclusions Our finding suggests that TP53 somatic mutations, in addition to its germline mutations, may also be involved in the pathogenesis of pediatric CPC. |
| Databáze: | OpenAIRE |
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