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A novel TP53 somatic mutation involved in the pathogenesis of pediatric choroid plexus carcinoma
Sheng-Qing Lv1, Ye-Chun Song, Jian-Ping Xu
1Department of Neurosurgery, Xinqiao Hospital, Third Military Medical University, Chongqing, China. lvsq0518@yahoo.com.cn
Insights
This study reports a rare pediatric choroid plexus carcinoma (CPC) case with a TP53 somatic mutation, suggesting this genetic alteration may contribute to CPC development.
Area of Science:
- Neuro-oncology
- Pediatric oncology
- Molecular genetics
Background:
- Choroid plexus carcinoma (CPC) is a rare and aggressive central nervous system neoplasm primarily affecting children.
- CPC often presents with symptoms of increased intracranial pressure and cerebrospinal fluid obstruction.
Observation:
- A case of CPC in a 2.5-year-old girl is presented.
- The tumor showed characteristic histopathological and immunohistochemical features.
- Genetic analysis revealed a novel R248Q mutation in the TP53 gene within the tumor sample.
Findings:
- The identified TP53 mutation was somatic, originating in the tumor cells, not inherited.
- Peritumoral tissue lacked the TP53 mutation, confirming its somatic nature.
- This contrasts with previous literature often linking germline TP53 mutations to CPC pathogenesis.
Implications:
- TP53 somatic mutations may play a role in the development of pediatric choroid plexus carcinoma.
- This finding expands the understanding of the genetic landscape of CPC.
- Further research into TP53 mutations in CPC is warranted.
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.
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