Pheochromocytoma associated with neurofibromatosis type 1: a clinical case

Енисеева, Е. С.; Протасов, К. В.; Власюк, Татьяна Петровна; Токарева, Н. П.; Белых, Д. В.

doi:10.15829/1560-4071-2019-9-61-63

Russ J Cardiol

2019

DOI: 10.15829/1560-4071-2019-9-61-63

|View full text |Cite

Pheochromocytoma associated with neurofibromatosis type 1: a clinical case

Е. С. Енисеева

К. В. Протасов

Татьяна Петровна Власюк

et al.

Abstract: A clinical case of pheochromocytoma in combination with neurofibromatosis type 1 is presented in a man admitted to the cardiology department with acute coronary syndrome on the background of hypertensive crisis. The crisis was complicated by myocardial ischemia, myeloid leukemoid reaction, hyperglycemia and acute renal damage. Pheochromocytoma was verified by blood metabolites of catecholamines test and histological method. Surgical adrenalectomy was performed.

Help me understand this report

Search citation statements

Order By: Relevance

Paper Sections

Select...

Citation Types

Supporting

Mentioning

Contrasting

Year Published

2023

Publication Types

Select...

Article1

Relationship

Self Cite0

Independent1

Authors

Journals

Cited by 1 publication

References 6 publications

(10 reference statements)

Supporting

Mentioning

Contrasting

Order By: Relevance

Neurofibromatosis type 1 associated with pheochromocytoma: a case report with a brief review of the literature

Lugovskaya,

Britvin,

Gurevich

et al. 2023

Probl Endokrinol (Mosk)

View full text Add to dashboard Cite

We presented the clinical case of neurofibromatosis type 1 (NF-1) associated with pheochromocytoma (PHEO) in a man under 40 years old without family history. The diagnosis of NF-1 was established based on 4 signs of the disease (multiple café au lait macules, scoliotic changes in posture, the presence of multiple neurofibromas, Lisch nodules). The diagnosis 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 revealed a new mutation in one of the alleles of NF1 gene, a deletion of a 566 bp gene fragment, including exon 19 with a 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 of the KRAS and BRAF genes and increase in the level of transcription of the TMEM127 gene in comparison with control samples have been detected. This case demonstrates the need for timely recognition of NF-1 for further appropriate patient’s follow up and show the effectiveness of a multidisciplinary approach to the diagnosis and treatment of NF-1-associated catecholamine-secreting tumors.

show abstract

Neurofibromatosis type 1 associated with pheochromocytoma: a case report with a brief review of the literature

Lugovskaya,

Britvin,

Gurevich

et al. 2023

Probl Endokrinol (Mosk)

View full text Add to dashboard Cite

show abstract

scite is a Brooklyn-based organization that helps researchers better discover and understand research articles through Smart Citations–citations that display the context of the citation and describe whether the article provides supporting or contrasting evidence. scite is used by students and researchers from around the world and is funded in part by the National Science Foundation and the National Institute on Drug Abuse of the National Institutes of Health.

Contact Info

hi@scite.ai

10624 S. Eastern Ave., Ste. A-614

Henderson, NV 89052, USA

Blog Terms and Conditions API Terms Privacy Policy Contact Cookie Preferences Do Not Sell or Share My Personal Information

Made with 💙 for researchers

Part of the Research Solutions Family.

Pheochromocytoma associated with neurofibromatosis type 1: a clinical case

Cited by 1 publication

References 6 publications

Neurofibromatosis type 1 associated with pheochromocytoma: a case report with a brief review of the literature

Neurofibromatosis type 1 associated with pheochromocytoma: a case report with a brief review of the literature

Contact Info

Product

Resources

About