Atypical teratoid/rhabdoid tumour with CDK6 amplification in a child: a case report and literature review
Atypical teratoid/rhabdoid tumours (AT/RTs) are rare central nervous system neoplasms that frequently occur in infants and children and have a very poor prognosis. In recent years, molecular analysis of AT/RTs has shown that biallelic inactivation of SMARCB1 (INI1, SNF5, BAF47) or SMARCA4 (BRG1) fre...
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| Format: | Article |
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Frontiers Media S.A.
2023-08-01
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| Series: | Frontiers in Pediatrics |
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| Online Access: | https://www.frontiersin.org/articles/10.3389/fped.2023.1237572/full |
| _version_ | 1797729021490888704 |
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| author | Zhibin Li Yubo Wang Yuanhao Liu Yining Jiang Xuefei Han Liyan Zhao Yunqian Li |
| author_facet | Zhibin Li Yubo Wang Yuanhao Liu Yining Jiang Xuefei Han Liyan Zhao Yunqian Li |
| author_sort | Zhibin Li |
| collection | DOAJ |
| description | Atypical teratoid/rhabdoid tumours (AT/RTs) are rare central nervous system neoplasms that frequently occur in infants and children and have a very poor prognosis. In recent years, molecular analysis of AT/RTs has shown that biallelic inactivation of SMARCB1 (INI1, SNF5, BAF47) or SMARCA4 (BRG1) frequently occurs. Here, we present a case of basal ganglia AT/RT with SMARCB1 gene deficiency and CDK6 gene amplification in a 5-year-old child. A 5-year-old boy was hospitalized due to a 1-week history of frontal and parietal headache. Magnetic resonance imaging (MRI) demonstrated a 3 cm × 2 cm × 1.5 cm heterogeneous enhanced mass located at the right basal ganglia that partially protruded into the right lateral ventricle. The lesion was successfully resected under electrophysiological monitoring and neuronavigation. The postoperative pathological examination implied an AT/RT diagnosis, with loss of SMARCB1 protein, SMARCB1 gene deficiency and CDK6 gene amplification. Unfortunately, the patient died due to respiratory and circulatory failure at 5 weeks after the operation. To date, standard regimens have not yet been established due to the lack of large-scale prospective studies for AT/RT. The p16-RB signalling pathway should be considered as a potential target for AT/RT treatment modalities. Apart from traditional regimens, targeted therapies, especially CDK4/6 inhibitors, are likely a promising therapeutic option for AT/RT treatment. |
| first_indexed | 2024-03-12T11:22:50Z |
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| id | doaj.art-4310f15b998742f18d1345d8aae6af94 |
| institution | Directory Open Access Journal |
| issn | 2296-2360 |
| language | English |
| last_indexed | 2024-03-12T11:22:50Z |
| publishDate | 2023-08-01 |
| publisher | Frontiers Media S.A. |
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| series | Frontiers in Pediatrics |
| spelling | doaj.art-4310f15b998742f18d1345d8aae6af942023-09-01T15:07:30ZengFrontiers Media S.A.Frontiers in Pediatrics2296-23602023-08-011110.3389/fped.2023.12375721237572Atypical teratoid/rhabdoid tumour with CDK6 amplification in a child: a case report and literature reviewZhibin Li0Yubo Wang1Yuanhao Liu2Yining Jiang3Xuefei Han4Liyan Zhao5Yunqian Li6Department of Neurosurgery, First Hospital of Jilin University, Changchun, ChinaDepartment of Neurosurgery, First Hospital of Jilin University, Changchun, ChinaDepartment of Neurosurgery, First Hospital of Jilin University, Changchun, ChinaDepartment of Neurosurgery, First Hospital of Jilin University, Changchun, ChinaDepartment of Neurosurgery, First Hospital of Jilin University, Changchun, ChinaDepartment of Clinical Laboratory, Second Hospital of Jilin University, Changchun, ChinaDepartment of Neurosurgery, First Hospital of Jilin University, Changchun, ChinaAtypical teratoid/rhabdoid tumours (AT/RTs) are rare central nervous system neoplasms that frequently occur in infants and children and have a very poor prognosis. In recent years, molecular analysis of AT/RTs has shown that biallelic inactivation of SMARCB1 (INI1, SNF5, BAF47) or SMARCA4 (BRG1) frequently occurs. Here, we present a case of basal ganglia AT/RT with SMARCB1 gene deficiency and CDK6 gene amplification in a 5-year-old child. A 5-year-old boy was hospitalized due to a 1-week history of frontal and parietal headache. Magnetic resonance imaging (MRI) demonstrated a 3 cm × 2 cm × 1.5 cm heterogeneous enhanced mass located at the right basal ganglia that partially protruded into the right lateral ventricle. The lesion was successfully resected under electrophysiological monitoring and neuronavigation. The postoperative pathological examination implied an AT/RT diagnosis, with loss of SMARCB1 protein, SMARCB1 gene deficiency and CDK6 gene amplification. Unfortunately, the patient died due to respiratory and circulatory failure at 5 weeks after the operation. To date, standard regimens have not yet been established due to the lack of large-scale prospective studies for AT/RT. The p16-RB signalling pathway should be considered as a potential target for AT/RT treatment modalities. Apart from traditional regimens, targeted therapies, especially CDK4/6 inhibitors, are likely a promising therapeutic option for AT/RT treatment.https://www.frontiersin.org/articles/10.3389/fped.2023.1237572/fullatypical teratoid/rhabdoid tumourcase reportcentral nervous system neoplasmsCDK6treatmentCDK4/6 inhibitors |
| spellingShingle | Zhibin Li Yubo Wang Yuanhao Liu Yining Jiang Xuefei Han Liyan Zhao Yunqian Li Atypical teratoid/rhabdoid tumour with CDK6 amplification in a child: a case report and literature review Frontiers in Pediatrics atypical teratoid/rhabdoid tumour case report central nervous system neoplasms CDK6 treatment CDK4/6 inhibitors |
| title | Atypical teratoid/rhabdoid tumour with CDK6 amplification in a child: a case report and literature review |
| title_full | Atypical teratoid/rhabdoid tumour with CDK6 amplification in a child: a case report and literature review |
| title_fullStr | Atypical teratoid/rhabdoid tumour with CDK6 amplification in a child: a case report and literature review |
| title_full_unstemmed | Atypical teratoid/rhabdoid tumour with CDK6 amplification in a child: a case report and literature review |
| title_short | Atypical teratoid/rhabdoid tumour with CDK6 amplification in a child: a case report and literature review |
| title_sort | atypical teratoid rhabdoid tumour with cdk6 amplification in a child a case report and literature review |
| topic | atypical teratoid/rhabdoid tumour case report central nervous system neoplasms CDK6 treatment CDK4/6 inhibitors |
| url | https://www.frontiersin.org/articles/10.3389/fped.2023.1237572/full |
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