Rubinstein-Taybi syndrome with ganglioneuroblastoma: a case report and literature review
Abstract Background Rubinstein-Taybi syndrome (RSTS) is a rare genetic disorder characterized by severe global developmental delay (GDD) and distinctive facial grimacing. The loss of function of the CREBBP and EP300 genes is recognized as a genetic etiology of RSTS. However, the association between...
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2025-03-01
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| author | Jiaji Zhou Tang Dan Lan Zeng Fu Xiong Guanghuan Pi Ai Chen Haiting Liu Shuyao Zhu |
| author_facet | Jiaji Zhou Tang Dan Lan Zeng Fu Xiong Guanghuan Pi Ai Chen Haiting Liu Shuyao Zhu |
| author_sort | Jiaji Zhou |
| collection | DOAJ |
| description | Abstract Background Rubinstein-Taybi syndrome (RSTS) is a rare genetic disorder characterized by severe global developmental delay (GDD) and distinctive facial grimacing. The loss of function of the CREBBP and EP300 genes is recognized as a genetic etiology of RSTS. However, the association between CREBBP variants and an increased risk of tumors remains unknown, despite multiple reports of tumor comorbidities related to RSTS. The aim of this study is to elucidate the tumors associated with CREBBP variants in the context of RSTS by presenting a case of ganglioneuroblastoma (GNB) in a patient diagnosed with RSTS. Case presentation We describe a 9-month-old male patient exhibiting distinctive facial features, enorchia, and GDD. Whole exome sequencing (WES) revealed a de novo pathogenic variant in NM_004380 (CREBBP): c.1068del (p.Gln356Hisfs*33). At one year of age, the patient experienced an unexplained fever lasting for two months, and the definitive diagnosis of GNB was established. Conclusions We report a case of RSTS co-morbid with GNB and conduct phenotypic and genotypic analyses of 43 individuals with documented CREBBP variants and associated tumors in the literature. We observed that frameshift variations are common in malignancies among the individuals studied, while more microdeletions were noted in patients with benign tumors. Currently, there is insufficient evidence to support a correlation between the types of CREBBP variants and specific tumor types. Further research is required to clarify the role of CREBBP variants in tumorigenesis. |
| format | Article |
| id | doaj-art-702600f3ebfb46e6bcd3d40ffcfab2cb |
| institution | DOAJ |
| issn | 1471-2431 |
| language | English |
| publishDate | 2025-03-01 |
| publisher | BMC |
| record_format | Article |
| series | BMC Pediatrics |
| spelling | doaj-art-702600f3ebfb46e6bcd3d40ffcfab2cb2025-08-20T03:07:41ZengBMCBMC Pediatrics1471-24312025-03-012511910.1186/s12887-025-05608-6Rubinstein-Taybi syndrome with ganglioneuroblastoma: a case report and literature reviewJiaji Zhou0Tang Dan1Lan Zeng2Fu Xiong3Guanghuan Pi4Ai Chen5Haiting Liu6Shuyao Zhu7Department of Pediatrics, Sichuan Provincial Maternity and Child Health Care HospitalDepartment of Children’s Health Care Sichuan, Provincial Maternity and Child Health Care HospitalDepartment of Children’s Health Care Sichuan, Provincial Maternity and Child Health Care HospitalDepartment of Pediatrics, Sichuan Provincial Maternity and Child Health Care HospitalDepartment of Pediatrics, Sichuan Provincial Maternity and Child Health Care HospitalDepartment of Pediatrics, The Second People’s Hospital of Chengdu CityDepartment of Neonatology, West China Second University Hospital, Sichuan University, West China Women’s and Children’s HospitalDepartment of Pediatrics, Sichuan Provincial Maternity and Child Health Care HospitalAbstract Background Rubinstein-Taybi syndrome (RSTS) is a rare genetic disorder characterized by severe global developmental delay (GDD) and distinctive facial grimacing. The loss of function of the CREBBP and EP300 genes is recognized as a genetic etiology of RSTS. However, the association between CREBBP variants and an increased risk of tumors remains unknown, despite multiple reports of tumor comorbidities related to RSTS. The aim of this study is to elucidate the tumors associated with CREBBP variants in the context of RSTS by presenting a case of ganglioneuroblastoma (GNB) in a patient diagnosed with RSTS. Case presentation We describe a 9-month-old male patient exhibiting distinctive facial features, enorchia, and GDD. Whole exome sequencing (WES) revealed a de novo pathogenic variant in NM_004380 (CREBBP): c.1068del (p.Gln356Hisfs*33). At one year of age, the patient experienced an unexplained fever lasting for two months, and the definitive diagnosis of GNB was established. Conclusions We report a case of RSTS co-morbid with GNB and conduct phenotypic and genotypic analyses of 43 individuals with documented CREBBP variants and associated tumors in the literature. We observed that frameshift variations are common in malignancies among the individuals studied, while more microdeletions were noted in patients with benign tumors. Currently, there is insufficient evidence to support a correlation between the types of CREBBP variants and specific tumor types. Further research is required to clarify the role of CREBBP variants in tumorigenesis.https://doi.org/10.1186/s12887-025-05608-6CREBBPRubinstein-Taybi syndromeGanglioneuroblastoma |
| spellingShingle | Jiaji Zhou Tang Dan Lan Zeng Fu Xiong Guanghuan Pi Ai Chen Haiting Liu Shuyao Zhu Rubinstein-Taybi syndrome with ganglioneuroblastoma: a case report and literature review BMC Pediatrics CREBBP Rubinstein-Taybi syndrome Ganglioneuroblastoma |
| title | Rubinstein-Taybi syndrome with ganglioneuroblastoma: a case report and literature review |
| title_full | Rubinstein-Taybi syndrome with ganglioneuroblastoma: a case report and literature review |
| title_fullStr | Rubinstein-Taybi syndrome with ganglioneuroblastoma: a case report and literature review |
| title_full_unstemmed | Rubinstein-Taybi syndrome with ganglioneuroblastoma: a case report and literature review |
| title_short | Rubinstein-Taybi syndrome with ganglioneuroblastoma: a case report and literature review |
| title_sort | rubinstein taybi syndrome with ganglioneuroblastoma a case report and literature review |
| topic | CREBBP Rubinstein-Taybi syndrome Ganglioneuroblastoma |
| url | https://doi.org/10.1186/s12887-025-05608-6 |
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