Pheochromocytoma pathophysiology

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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Ahmad Al Maradni, M.D. [2] Mohammed Abdelwahed M.D[3]

Overview

Pheochromocytoma arises from chromaffin cells of the adrenal medulla. On gross pathology, pheochromocytoma has a multinodular and a multicentric pattern of growth. On microscopic histopathological analysis, nesting (Zellballen) pattern composed of well-defined clusters of tumor cells separated by fibrovascular stroma may be seen. It may be benign, malignant, familial (multiple endocrine neoplasia 1 and type 2B) or sporadic. All of these forms have genetic origin depending on a large number of genes, for example, VHL, SDH, NF1, RET genes.

Pathophysiology

The pathophysiology associated with pheochromocytoma is as follow:[1] [2][3]

Effects of adrenergic stimulation by pheochromocytoma

Genetics

  • 60-65 percent of pheochromocytomas are sporadic.[4][5]
Familial pheocromocytoma
Cluster 1 (Noradrenergic) Cluster 2 (Adrenergic)

Associated conditions

MEN 1 MEN 2

Gross Pathology

Microscopic Pathology

On microscopic pathology, Pheochromocytoma typically demonstrates a nesting (Zellballen) pattern on microscopy. This pattern is composed of well-defined clusters of tumor cells containing eosinophilic cytoplasm separated by fibrovascular stroma.

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References

  1. Goldstein RE, O'Neill JA, Holcomb GW, Morgan WM, Neblett WW, Oates JA; et al. (1999). "Clinical experience over 48 years with pheochromocytoma.". Ann Surg. 229 (6): 755–64; discussion 764–6. PMC 1420821Freely accessible. PMID 10363888. 
  2. Raz I, Katz A, Spencer MK (1991). "Epinephrine inhibits insulin-mediated glycogenesis but enhances glycolysis in human skeletal muscle.". Am J Physiol. 260 (3 Pt 1): E430–5. PMID 1900669. 
  3. Arnall DA, Marker JC, Conlee RK, Winder WW (1986). "Effect of infusing epinephrine on liver and muscle glycogenolysis during exercise in rats.". Am J Physiol. 250 (6 Pt 1): E641–9. PMID 3521311. 
  4. Webb TA, Sheps SG, Carney JA (1980). "Differences between sporadic pheochromocytoma and pheochromocytoma in multiple endocrime neoplasia, type 2". Am. J. Surg. Pathol. 4 (2): 121–6. PMID 6103678. 
  5. Yee JK, Moores JC, Jolly DJ, Wolff JA, Respess JG, Friedmann T (1987). "Gene expression from transcriptionally disabled retroviral vectors". Proc. Natl. Acad. Sci. U.S.A. 84 (15): 5197–201. PMC 298821Freely accessible. PMID 3474647. 
  6. Shuch B, Ricketts CJ, Metwalli AR, Pacak K, Linehan WM (2014). "The genetic basis of pheochromocytoma and paraganglioma: implications for management.". Urology. 83 (6): 1225–32. PMC 4572836Freely accessible. PMID 24642075. doi:10.1016/j.urology.2014.01.007. 
  7. King KS, Pacak K (2014). "Familial pheochromocytomas and paragangliomas.". Mol Cell Endocrinol. 386 (1-2): 92–100. PMC 3917973Freely accessible. PMID 23933153. doi:10.1016/j.mce.2013.07.032. 
  8. Neumann HP, Pawlu C, Peczkowska M, Bausch B, McWhinney SR, Muresan M; et al. (2004). "Distinct clinical features of paraganglioma syndromes associated with SDHB and SDHD gene mutations.". JAMA. 292 (8): 943–51. PMID 15328326. doi:10.1001/jama.292.8.943. 
  9. Kaelin WG (2002). "Molecular basis of the VHL hereditary cancer syndrome.". Nat Rev Cancer. 2 (9): 673–82. PMID 12209156. doi:10.1038/nrc885. 
  10. Barry RE, Krek W (2004). "The von Hippel-Lindau tumour suppressor: a multi-faceted inhibitor of tumourigenesis.". Trends Mol Med. 10 (9): 466–72. PMID 15350900. doi:10.1016/j.molmed.2004.07.008. 
  11. Neumann HP, Bender BU (1998). "Genotype-phenotype correlations in von Hippel-Lindau disease.". J Intern Med. 243 (6): 541–5. PMID 9681856. 
  12. Maher ER, Webster AR, Richards FM, Green JS, Crossey PA, Payne SJ; et al. (1996). "Phenotypic expression in von Hippel-Lindau disease: correlations with germline VHL gene mutations.". J Med Genet. 33 (4): 328–32. PMC 1050584Freely accessible. PMID 8730290. 
  13. Mulligan LM, Eng C, Healey CS, Clayton D, Kwok JB, Gardner E; et al. (1994). "Specific mutations of the RET proto-oncogene are related to disease phenotype in MEN 2A and FMTC.". Nat Genet. 6 (1): 70–4. PMID 7907913. doi:10.1038/ng0194-70. 
  14. Hansford JR, Mulligan LM (2000). "Multiple endocrine neoplasia type 2 and RET: from neoplasia to neurogenesis.". J Med Genet. 37 (11): 817–27. PMC 1734482Freely accessible. PMID 11073534. 
  15. Asai N, Iwashita T, Matsuyama M, Takahashi M (1995). "Mechanism of activation of the ret proto-oncogene by multiple endocrine neoplasia 2A mutations.". Mol Cell Biol. 15 (3): 1613–9. PMC 230385Freely accessible. PMID 7532281. 
  16. Lantieri F, Griseri P, Ceccherini I (2006). "Molecular mechanisms of RET-induced Hirschsprung pathogenesis.". Ann Med. 38 (1): 11–9. PMID 16448984. doi:10.1080/07853890500442758. 
  17. Brannan CI, Perkins AS, Vogel KS, Ratner N, Nordlund ML, Reid SW; et al. (1994). "Targeted disruption of the neurofibromatosis type-1 gene leads to developmental abnormalities in heart and various neural crest-derived tissues.". Genes Dev. 8 (9): 1019–29. PMID 7926784. 
  18. Shen MH, Harper PS, Upadhyaya M (1996). "Molecular genetics of neurofibromatosis type 1 (NF1).". J Med Genet. 33 (1): 2–17. PMC 1051805Freely accessible. PMID 8825042. 
  19. Gutmann DH, Cole JL, Stone WJ, Ponder BA, Collins FS (1994). "Loss of neurofibromin in adrenal gland tumors from patients with neurofibromatosis type I.". Genes Chromosomes Cancer. 10 (1): 55–8. PMID 7519874. 
  20. Bausch B, Borozdin W, Mautner VF, Hoffmann MM, Boehm D, Robledo M; et al. (2007). "Germline NF1 mutational spectra and loss-of-heterozygosity analyses in patients with pheochromocytoma and neurofibromatosis type 1.". J Clin Endocrinol Metab. 92 (7): 2784–92. PMID 17426081. doi:10.1210/jc.2006-2833. 
  21. Sajjanar AB, Athanikar VS, Dinesh US, Nanjappa B, Patil PB (2015). "Non Functional Unilateral Adrenal Myelolipoma, A Case Report.". J Clin Diagn Res. 9 (6): ED03–4. PMC 4525519Freely accessible. PMID 26266130. doi:10.7860/JCDR/2015/13209.6070. 

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