التفاصيل البيبلوغرافية
| العنوان: |
Concurrent mutations of germline GPR101 and somatic USP8 in a pediatric giant pituitary ACTH adenoma: a case report |
| المؤلفون: |
Bao, Xu-dong, Lu, Lin, Zhu, Hui-juan, Yao, Yong, Feng, Ming, Wang, Ren-zhi, Zhai, Xiao, Fu, Yong, Gong, Feng-ying, Lu, Zhao-lin |
| المساهمون: |
The National Key Research and Development Program of China, CAMS Innovation Fund for Medical Science |
| المصدر: |
BMC Endocrine Disorders ; volume 22, issue 1 ; ISSN 1472-6823 |
| بيانات النشر: |
Springer Science and Business Media LLC |
| سنة النشر: |
2022 |
| مصطلحات موضوعية: |
General Medicine, Endocrinology, Diabetes and Metabolism |
| الوصف: |
Background Cushing’s disease (CD) is rare in pediatric patients. It is characterized by elevated plasma adrenocorticotropic hormone (ACTH) from pituitary adenomas, with damage to multiple systems and development. In recent years, genetic studies have shed light on the etiology and several mutations have been identified in patients with CD. Case presentation A girl presented at the age of 10 years and 9 months with facial plethora, hirsutism and acne. Her vision and eye movements were impaired. A quick weight gain and slow growth were also observed. Physical examination revealed central obesity, moon face, buffalo hump, supra-clavicular fat pads and bruising. Her plasma ACTH level ranged between 118 and 151 pg/ml, and sella enhanced MRI showed a giant pituitary tumor of 51.8 × 29.3 × 14.0 mm. Transsphenoidal pituitary debulk adenomectomy was performed and immunohistochemical staining confirmed an ACTH-secreting adenoma. Genetic analysis identified a novel germline GPR101 (p.G169R) and a somatic USP8 (p. S719del) mutation. They were hypothesized to impact tumor growth and function, respectively. Conclusions We reported a rare case of pediatric giant pituitary ACTH adenoma and pointed out that unusual concurrent mutations might contribute to its early onset and large volume. |
| نوع الوثيقة: |
article in journal/newspaper |
| اللغة: |
English |
| DOI: |
10.1186/s12902-022-01058-8 |
| DOI: |
10.1186/s12902-022-01058-8.pdf |
| DOI: |
10.1186/s12902-022-01058-8/fulltext.html |
| الإتاحة: |
https://doi.org/10.1186/s12902-022-01058-8Test |
| حقوق: |
https://creativecommons.org/licenses/by/4.0Test ; https://creativecommons.org/licenses/by/4.0Test |
| رقم الانضمام: |
edsbas.F104FA6A |
| قاعدة البيانات: |
BASE |
