Bilateral pheochromocytoma and a tumor of the jejunum with neurofibromatosis of type 1
https://doi.org/10.35401/2500-0268-2019-16-4-55-61
Abstract
Neurofibromatosis type 1 (NF1) is a hereditary disease with the high frequency of neuroendocrine tumors. This article represents a clinical case of the diagnosed NF1 in a 40-year old patient with the history of bilateral pheocromocytoma and malignant gastrointestinal stromal tumor of the jejunum. Clinical diagnosis NF1 was suspected on the basis of the typical skin manifestations.The timely diagnosis of NF1 has practical significance as it enables physicians persistently search for neuroendocrine lesions in a such cohort of patients.
About the Authors
G. G. Petrik
Kuban State Medical University; Scientific Research Institute – Ochapovsky Regional Clinical Hospital no. 1
Russian Federation
Russian Federation
Petrik Galina G. – Cand. of Sci. (Med.), assistant professor of Department of Therapy no. 1; endocrinologist
Krasnodar
E. D. Kosmacheva
Kuban State Medical University; Scientific Research Institute – Ochapovsky Regional Clinical Hospital no. 1
Russian Federation
Russian Federation
Kosmacheva Elena D. – Head of Department of Therapy no. 1; Dr. of Sci. (Med.), Chief Medical Officer
Krasnodar
S. V. Butaeva
Scientific Research Institute – Ochapovsky Regional Clinical Hospital no. 1
Russian Federation
Russian Federation
Butaeva Svetlana V. – Head of Endocrinology Department
Krasnodar
M. I. Shevchenko
Scientific Research Institute – Ochapovsky Regional Clinical Hospital no. 1
Russian Federation
Russian Federation
Shevchenko Mariya I. – endocrinologist
Krasnodar, 1st May str., 167, 350086
D. V. Sokolova
Scientific Research Institute – Ochapovsky Regional Clinical Hospital no. 1
Russian Federation
Russian Federation
Sokolova Diana V. – endocrinologist
Krasnodar
A. S. Sokolova
Kuban State Medical University
Russian Federation
Russian Federation
Sokolova Anastasiya S. – 6th year student of the Faculty of Medicine
Krasnodar
References
1. Dasari A, Shen C, Halperin D, et al. Trends in the Incidence, Prevalence, and Survival Outcomes in Patients With Neuroendocrine Tumors in the United States. JАМАoncol. 2017;3(10):1335-1342.
2. Evans D.G, Howard E, Giblin C, et al. Birth incidence and prevalence of tumor-prone syndromes: estimates from a UK family genetic register service. Am J Med Genet A. 2010;152A (2):327-332.
3. Virginia C. Williams, John Lucas, Michael A. Babcock, et al. Neurofibromatosis Type 1 Revisited. Pediatrics. 2009;123:124-133.
4. Uusitalo E, Leppävirta J, Koffert A, et al. Incidence and mortality of neurofibromatosis: a total population study in Finland. J. Invest Dermatol. 2015;135(3):904-906.
5. Ferrari F, Masurel A, Olivier-Faivre L. et al., Juvenile xanthogranuloma and nevus anemicus in the diagnosis of neurofibromatosis type 1. JАМАdermatol. 2014;150(1):42-46.
6. Miller D.T., Freedenberg D., Schorry E, et al. Supervision for Children with Neurofibromatosis Type 1. Pediatrics. 2019;143(5):116.
7. Evans DG, Huson SM, Birch JM. Malignant peripheral nerve sheath tumours in inherited disease. Clin. Sarcoma Res. 2012;2(1):17.
8. Listernick R, Charrow J, Gutmann DH. Intracranial gliomas in neurofibromatosis type 1. Am J Med Genet. 1999;89(1):38-44.
9. Seminog OO, Goldacre MJ. Risk of benign tumours of nervous system, and of malignant neoplasms, in people with neurofibromatosis: population-based record-linkage study. Br J Cancer. 2013;108(1):193-198.
10. Rea D, Brandsema JF, Armstrong D, et al. Cerebral arteriopathy in children with neurofibromatosis type 1. Pediatrics. 2009;124(3):476-83.
11. Dubov T, Toledano-Alhadef H, Chernin G, et al. High prevalence of elevated blood pressure among children with neurofibromatosis type 1. Pediatr Nephrol. 2016;31(1):131–136. doi:10.1007/s00467-015-3191-6
12. Pasmant, E., Sabbagh, A., Spurlock, G., et al. NF1 microdeletions in neurofibromatosis type 1: from genotype to phenotype. Hum. Mutat. 2010;31:1506-1518.
13. Upadhyaya M, Huson SM, Davies M, et al. An absence of cutaneous neurofibromas associated with a 3-bp inframe deletion in exon 17 of the NF1 gene (c.2970-2972 delAAT): evidence of a clinically significant NF1 genotype-phenotype correlation. Am J Hum Genet.2007;80(1):140-151. doi:10.1086/510781
14. Rojnueangnit K, Xie J, Gomes A, et. al. High incidence of Noonan syndrome features including short stature and pulmonic stenosis in patients carrying NF1 missense mutations affecting p. Hum Mutat. 2015;36(11):1052-63. http//doi:10.1002/humu.22832
15. Ruggieri M., Polizzi A, Spalice, et al. The natural history of spinal neurofibromatosis: a crifical review of clinical and genetic features. Clin. Genet. 2015;87(5):401-410.
Review
For citations:
Petrik G.G., Kosmacheva E.D., Butaeva S.V., Shevchenko M.I., Sokolova D.V., Sokolova A.S. Bilateral pheochromocytoma and a tumor of the jejunum with neurofibromatosis of type 1. Innovative Medicine of Kuban. 2019;(4):55-61. (In Russ.) https://doi.org/10.35401/2500-0268-2019-16-4-55-61
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