|
ИСТИНА |
Войти в систему Регистрация |
ИСТИНА ИНХС РАН |
||
Neurofibromatosis type 1 associated with pheochromocytoma: a case report with a brief review of the literatureстатья
Статья опубликована в журнале из списка RSCI Web of Science
Статья опубликована в журнале из перечня ВАКСтатья опубликована в журнале из списка Web of Science и/или Scopus
Дата последнего поиска статьи во внешних источниках: 5 июня 2024 г.
- Авторы: Lugovskaya A.Y., Britvin T.A., Gurevich L.E., Rog I.S., Nefedova L.N., Ilovayskaya I.A.
- Журнал: Проблемы Эндокринологии
- Том: 70
- Номер: 2
- Год издания: 2024
- Издательство: Медиа Сфера
- Местоположение издательства: М.
- Первая страница: 53
- Последняя страница: 64
- DOI: 10.14341/probl13345
- Аннотация: We presented the clinical case of neurofibromatosis type 1 (NF-1) associated with pheochromocytoma (PHEO) in a manunder 40 years old without family history. The diagnosis of NF-1 was established based on 4 signs of the disease (multiplecafé au lait macules, scoliotic changes in posture, the presence of multiple neurofibromas, Lisch nodules). Thediagnosis of PHEO was determined by a significant increase of free metanephrin/normethanephrin levels in daily urine,a malignant CT phenotype of the right adrenal tumor, and confirmed by pathomorphological study. Genetic tests revealeda new mutation in one of the alleles of NF1 gene, a deletion of a 566 bp gene fragment, including exon 19 witha size of 73 bp. This mutation leads to splicing of exons 18 and 20, frameshift, and termination of protein synthesis.A study of the level of transcription of the genes associated with PHEO (RET, TMEM127, MAX, FGFR, MET, MERTK, BRAF,NGFR, Pi3, AKT, MTOR, KRAS, MAPK) was conducted, a statistically significant decrease in the level of transcription ofthe KRAS and BRAF genes and increase in the level of transcription of the TMEM127 gene in comparison with controlsamples have been detected. This case demonstrates the need for timely recognition of NF-1 for further appropriatepatient’s follow up and show the effectiveness of a multidisciplinary approach to the diagnosis and treatmentof NF-1-associated catecholamine-secreting tumors.
- Добавил в систему: Нефедова Лидия Николаевна