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Dergiler / The Journal of Pediatric Research / 2018 / Cilt: 5 - Sayı: 1

Early-Onset Isolated Bilateral Pheochromocytoma As a Major Clinical Manifestation of von-Hippel Lindau Syndrome Type 2C

Sezer ACAR
HALE ÜNVER TUHAN
KORCAN DEMİR
AYÇA AYKUT
ASUDE DURMAZ
Ünal Utku KARAARSLAN
Gözde İNCİ
Oğuz Ateş Ece BÖBER
AYHAN ABACI
Sayfa
48–51
DOI
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⚡ TL;DR(1 Cümlede Hızlı Çıkarım)

We aimed to emphasize that this rarely reported mutation is associated with VHL Type 2C that classically manifests with early-onset isolated bilateral pheochromocytoma.

📌 3 Maddede Bu Makale

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Amaç & Hipotez:Pheochromocytoma is a rare disease that is characterized by the increased production and secretion of catecholamines from the adrenal medulla.
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Temel Bulgular & Veri:VHL syndrome is clinically characterized with hemangioblastomas of the central nervous system and retina, renal cell carcinoma, and pheochromocytoma, and has been demonstrated to have a strong genotype-phenotype correlation.
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Sonuç & Katkı:We aimed to emphasize that this rarely reported mutation is associated with VHL Type 2C that classically manifests with early-onset isolated bilateral pheochromocytoma.
🔬Tür:Araştırma Makalesi
📍Kapsam:Genişletilmiş Akademik Örneklem
⚙️Değişkenler:Alan Parametreleri

Abstract

Pheochromocytoma is a rare disease that is characterized by the increased production and secretion of catecholamines from the adrenal medulla. The disease is autosomal dominant, and frequently sporadic and unilateral. Pheochromocytoma, which is diagnosed during childhood, mostly arises as a part of cancer susceptibility syndromes. Among these syndromes, von-Hippel Lindau (VHL) syndrome is dominantly inherited, and is frequently identified in childhood pheochromocytoma. VHL syndrome is clinically characterized with hemangioblastomas of the central nervous system and retina, renal cell carcinoma, and pheochromocytoma, and has been demonstrated to have a strong genotype-phenotype correlation. In this case report, we presented an 11-year-old male who was found to have early-onset isolated bilateral pheochromocytoma and V84L mutation in VHL. We aimed to emphasize that this rarely reported mutation is associated with VHL Type 2C that classically manifests with early-onset isolated bilateral pheochromocytoma.

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Bu Makaleye Atıf Yap

ACAR, S., TUHAN, H. Ü., DEMİR, K., AYKUT, A., DURMAZ, A., KARAARSLAN, Ü. U., İNCİ, G., BÖBER, O. A. E., ABACI, A. (2018). Early-Onset Isolated Bilateral Pheochromocytoma As a Major Clinical Manifestation of von-Hippel Lindau Syndrome Type 2C. The Journal of Pediatric Research, Cilt: 5 - Sayı: 1, 48–51. https://ajindex.com/articles/362781

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Kaynakça (11)

  1. Lenders JW, Eisonhofer G, Mannelli M, Pacak K. Phaeochromocytoma. Lancet 2005;7:665-75
  2. Bausch B, Wellner U, Bausch D, et al. Long-term prognosis of patients with pediatric pheochromocytoma. Endocr Relat Cancer 2014;21:17-25
  3. Miller WL, Achermann JC, Fluck CE. Pheochromocytoma and multiple endocrine neoplasia syndromes. In: Sperling MA (ed). Pediatric Endocrinology. 3th ed. Philadelphia, WB Saunders Elsevier, 2008;534-42
  4. Luchetti A, Walsh D, Rodger F, et al. Profiling of somatic mutations in pheochromocytoma and paraganglioma by targeted next generation sequencing analysis. Int J Endocrinol 2015;138573
  5. Neuman HP, Bausch B, McWhinneys SR, et al. Germ-line mutations in nonsyndromic pheochromocytoma. N Eng J Med 2002;346:1459-66
  6. Abbot MA, Nathanson KL, Nightingale S, Maher ER, Greenstein RM. The von-Hippel Lindau (VHL) germline mutation V84L manifests as early-onset bilateral pheocromocytoma. Am J Med Genet 2006;140:685-90
  7. Opocher G, Conton P, Schiavi F, Macino B, Mantero F. Pheochromocytoma in von Hippel-Lindau disease and neurofibromatosis type 1. Fam Cancer 2005;4:13-6
  8. Schreinemakers JM, Zonnenberg BA, Höppener JW, Hes FJ, Rinkes IH, Lips CJ. A patient with bilateral pheochromocytoma as part of a Von Hippel-Lindau (VHL) syndrome type 2C. World J Surg Oncol 2007;5:112-7
  9. Gomy I, Molfetta GA, de Andrade Barreto E, et al. Clinical and molecular characterization of Brazilian families with von Hippel-Lindau disease: a need for delineating genotypephenotype correlation. Fam Cancer 2010;9:635-42
  10. Iliopoulos O, Kibel A, Gray S, Kaelin WG Jr. Tumour suppression by the human von Hippel-Lindau gene product. Nat Med 1995;1:822-6
  11. Woodrum DT, Kheterpal S. Anesthetic management of phechromocytoma. World Journal of Endocrine 2010;2:111- 7.