Neurofibromatosis 1-related tumors in pediatric patients
https://doi.org/10.14341/probl13607
Abstract
Neurofibromatosis type 1 (NF1) is a multisystem genetic disorder associated with a lifelong increased risk of tumor development. Comprehensive monitoring of patients with NF1, involving a multidisciplinary team of specialists and the implementation of screening programs, is crucial for the early detection of associated pathological conditions that contribute to disability and reduced life expectancy. This article presents a clinical case of an adolescent female patient with tumor manifestations of NF1, in whom both diagnosed neoplasms — plexiform neurofibroma and pheochromocytoma, had a symptomatic course, significantly affecting her physical health and quality of life. A multidisciplinary approach and correct treatment led to favorable outcomes, enabling the patient to resume a normal lifestyle, despite the continuation of targeted therapy.
About the Authors
V. S. DeryuginaRussian Federation
Valeria S. Deryugina, resident doctor
2 Litovskaya street, 194100, St. Petersburg
Y. K. Toshina
Russian Federation
Yulia K. Toshina
St. Petersburg
I. L. Nikitina
Russian Federation
Irina L. Nikitina, Dr. Sci. (Med.), Professor
St. Petersburg
A. M. Todieva
Russian Federation
Anastasia M. Todieva, MD, PhD
St. Petersburg
N. S. Dekhtyareva
Russian Federation
Nadezhda S. Dekhtyareva, resident doctor
St. Petersburg
Y. V. Dinikina
Russian Federation
Yulia V. Dinikina, Cand. Sci. (Med.
St. Petersburg
References
1. Lee T-SJ, Chopra M, Kim RH, Parkin PC, Barnett-Tapia C. Incidence and prevalence of neurofibromatosis type 1 and 2: a systematic review and meta-analysis. Orphanet J Rare Dis. 2023;18(1):292. doi: https://doi.org/10.1186/s13023-023-02911-2
2. Peduto C, Zanobio M, Nigro V, Perrotta S, Piluso G, Santoro C. Neurofibromatosis Type 1: Pediatric Aspects and Review of Genotype-Phenotype Correlations. Cancers (Basel). 2023;15(4):1217. doi: https://doi.org/10.3390/cancers15041217
3. Poredska K, Kunovsky L, Prochazka V, Dolina J, Chovancova M, et al. Triple malignancy (NET, GIST and pheochromocytoma) as a first manifestation of neurofibromatosis type1 in an adult patient. Diagn Pathol. 2019;14(1):77. doi: https://doi.org/10.1186/s13000-019-0848-7
4. Tachibana A, Iida K, Itami Y, Hashimura M, Hosokawa Y, Fujimoto K. Composite pheochromocytoma associated with neurofibromatosis type 1. IJU Case Rep. 2023;6(5):278-281. doi: https://doi.org/10.1002/iju5.12603
5. Yukina MYu, Avsievich ES, Pushkareva AS, Nuralieva NF, Bondarenko EV, et al. Atypical and typical course of neurofibromatosis type 1 in combination with pheochromocytoma. Endocrine Surgery. 2021;15(3):30-40. (In Russ.) doi: https://doi.org/10.14341/serg12730
6. Leguis E, Messiaen L, Wolkenstein P, Pancza P, Avery R, et al. Revised diagnostic criteria for neurofibromatosis type 1 and Legius syndrome: an international consensus recommendation. Genetics in Medicine. 2021;23:1506-1513. doi: https://doi.org/10.1038/s41436-021-01170-5
7. Carton C, Evans DG, Blanco I, Friedrich RE, Ferner RE, et al.; ERN GENTURIS NF1 Tumour Management Guideline Group. ERN GENTURIS tumour surveillance guidelines for individuals with neurofibromatosis type 1. EClinicalMedicine. 2023;13(56):101818. doi: https://doi.org/10.1016/j.eclinm.2022.101818
8. Miller DT, Freedenberg D, Schorry E, et al. Health Supervision for Children With Neurofibromatosis Type 1. Pediatrics. 2019;143(5). doi: https://doi.org/10.1542/peds.2019-0660
9. Karwacki MW, Wysocki M, Perek-Polnik M, Jatczak-Gaca A. Coordinated medical care for children with neurofibromatosis type 1 and related RASopathies in Poland. Arch Med Sci. 2019;17(5):1221-1231. doi: https://doi.org/10.5114/aoms.2019.85143
10. Zografos GN, Vasiliadis GK, Zagouri F, et al. Pheochromocytoma associated with neurofibromatosis type 1: concepts and current trends. World J Surg Oncol. 2010;8(1):14. doi: https://doi.org/10.1186/1477-7819-8-14
11. Al-Sharefi A, Javaid U, Perros P, Ealing J, Truran P, et al. Clinical Presentation and Outcomes of Phaeochromocytomas/ Paragangliomas in Neurofibromatosis Type 1. Eur Endocrinol. 2019;15(2):95-100. doi: https://doi.org/10.17925/EE.2019.15.2.95
12. Képénékian L, Mognetti T, Lifante JC, et al. Interest of systematic screening of Pheochromocytoma in patients with neurofibromatosis type 1. Eur J Endocrinol. 2016. doi: https://doi.org/10.1530/EJE-16-0233
13. Björklund P, Pacak K, Crona J. Precision medicine in pheochromocytoma and paraganglioma: current and future concepts. J Intern Med. 2016;280(6):559-573. doi: https://doi.org/10.1111/joim.12507
14. Lima JV Júnior, Kater CE. The Pheochromocytoma/ Paraganglioma syndrome: an overview on mechanisms, diagnosis and management. Int Braz J Urol. 2023;49(3):307-319. doi: https://doi.org/10.1590/S1677-5538.IBJU.2023.0038
15. Garg MK, Kharb S, Brar KS, Gundgurthi A, Mittal R. Medical management of pheochromocytoma: Role of the endocrinologist. Indian J Endocrinol Metab. 2011;15 Suppl 4(Suppl4):S329-36. doi: https://doi.org/10.4103/2230-8210.86976
16. Pacak K. Preoperative management of the pheochromocytoma patient. J Clin Endocrinol Metab. 2007;92:4069–79. doi: https://doi.org/10.1210/jc.2007-1720
17. Mannelli M. Management and treatment of pheochromocytomas and paragangliomas. Ann N Y Acad Sci. 2006;1073:405–16. doi: https://doi.org/10.1196/annals.1353.044
18. Amodru V, Guerin C, Delcourt S, Romanet P, Loundou A, et al. Quantitative 18F-DOPA PET/CT in pheochromocytoma: the relationship between tumor secretion and its biochemical phenotype. Eur J Nucl Med Mol Imaging. 2018;45(2):278-282. doi: https://doi.org/10.1007/s00259-017-3833-y
19. Agcaoglu O, Aliyev S, Karabulut K, Mitchell J, Siperstein A, Berber E. Robotic versus laparoscopic resection of large adrenal tumors. Ann Surg Oncol. 2012;19(7):2288-94. doi: https://doi.org/10.1245/s10434-012-2296-4
20. Isiktas G, Akgun E, Berber E. Laporoscopic versus robotic lateral transabdominal adrenalectomy. J Surg Oncol. 2024;129(2):224-227. doi: https://doi.org/10.1002/jso.27493
21. Vatansever S, Nordenström E, Raffaelli M, Brunaud L, Makay O., Eurocrine Council. Robot-assisted versus conventional laparoscopic adrenalectomy: results from the Eurocrine Surgical Registry. Surgery. 2022;171(5):1224-1230. doi: https://doi.org/10.1016/j.surg.2021.12.003
Supplementary files
Review
For citations:
Deryugina V.S., Toshina Y.K., Nikitina I.L., Todieva A.M., Dekhtyareva N.S., Dinikina Y.V. Neurofibromatosis 1-related tumors in pediatric patients. Problems of Endocrinology. 2025;71(5):75-81. (In Russ.) https://doi.org/10.14341/probl13607
This work is licensed under a Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 International License (CC BY-NC-ND 4.0).




































.jpg)

