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Background <p>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 <i>CREBBP</i> and <i>EP300</i> genes is recognized as a genetic etiology of RSTS. However, the association between <i>CREBBP</i> 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 <i>CREBBP</i> variants in the context of RSTS by presenting a case of ganglioneuroblastoma (GNB) in a patient diagnosed with RSTS.</p> Case presentation <p>We describe a 9-month-old male patient exhibiting distinctive facial features, enorchia, and GDD. Whole exome sequencing (WES) revealed a <i>de novo</i> pathogenic variant in NM_004380 (<i>CREBBP</i>): 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.</p> Conclusions <p>We report a case of RSTS co-morbid with GNB and conduct phenotypic and genotypic analyses of 43 individuals with documented <i>CREBBP</i> 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 <i>CREBBP</i> variants and specific tumor types. Further research is required to clarify the role of <i>CREBBP</i> variants in tumorigenesis.</p>

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Rubinstein-Taybi syndrome with ganglioneuroblastoma: a case report and literature review

  • 期刊论文

  • 出版模式：

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  • 发表日期：

    2025年3月31日

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  • Jiaji Zhou,
  • Tang Dan,
  • Lan Zeng,
  • Fu Xiong,
  • Guanghuan Pi,
  • Ai Chen,
  • Haiting Liu,
  • Shuyao Zhu

摘要

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.