Unique association of non-functioning pheochromocytoma, ganglioneuroma, adrenal cortical adenoma, hepatic and vertebral hemangiomas in a patient with a new intronic variant in the VHL gene

Journal of Endocrinological Investigation

Volumn 28, Issue 2, 2005, Pages 1032-1037

  Bernini, G P ^a   Moretti, A ^a   Mannelli, M ^b   Ercolino, T ^b   Bardini, M ^a   Caramella, D ^a   Taurino, C ^a   Salvetti, A ^a  

^a UNIVERSITY OF PISA   (Italy)

^b UNIVERSITY OF FLORENCE   (Italy)

Author keywords

Ganglioneuroma; Hepatic and vertebral hemangiomas; Pheochromocytoma; VHL

Indexed keywords

ANDROGEN; CATECHOLAMINE; CD34 ANTIGEN; CHROMOGRANIN; GLUCOCORTICOID; MINERALOCORTICOID; NEURON SPECIFIC ENOLASE; SYNAPTOPHYSIN; VASCULOTROPIN; VON HIPPEL LINDAU PROTEIN;

ADRENAL CORTEX ADENOMA; AGED; ARTICLE; CASE REPORT; COMPUTER ASSISTED TOMOGRAPHY; DISEASE ASSOCIATION; ENDOCRINE SURGERY; FEMALE; GANGLIONEUROMA; HORMONE RELEASE; HUMAN; LIVER HEMANGIOMA; MIXED TUMOR; PHEOCHROMOCYTOMA; PROTEIN SECRETION; SPINE TUMOR;

EID: 33144471916     PISSN: 03914097     EISSN: None     Source Type: Journal    
DOI: 10.1007/bf03345345     Document Type: Article

References (28)

1. Linnoila RI, Keiser HR, Steinberg SM, Lack EE. Histopathology of benign versus malignant sympathoadrenal paragangliomas: clinicopathologic study of 120 cases including unusual histologic features. Hum Pathol 1990, 21: 1168-80.
2. Solcia E, Kloppel G, Sobin LH. Histological typing of endocrine tumours. WHO international histological classification of tumours. Berlin: Springer-Verlag. 2000, 15-9.
3. Contreras LN, Budd D, Yen TS, Thomas C, Tyrrell JB. Adrenal ganglioneuroma-pheochromocytoma secreting vasoactive intestinal polypeptide. West J Med 1991, 154: 334-7.
4. Kimura N, Watanabe T, Fukase M, Wakita A, Noshiro T, Kimura I. Neurofibromin and NF1 gene analysis in composite pheochromocytoma and tumors associated with von Recklinghausen's disease. Mod Pathol 2002, 15: 183-8.
5. King-Yin L, Chung-Yau L. Composite pheocromocytoma-ganglioneuroma of the adrenal gland: an uncommon entity with distinctive clinicopathologic features. Endocr Pathol 1999, 10: 343-52.
6. Nakagawara A, Ikeda K, Tsuneyoshi M, Daimaru Y, Enjoji M. Malignant pheochromocytoma with ganglioneuroblastoma elements in a patient with von Recklinghausen's disease. Cancer 1985, 55: 2794-8.
7. Franquemont DW, Mills SE, Lack EE. Immunohistochemical detection of neuroblastomatous foci in composite adrenal pheochromocytoma-neuroblastoma. Am J Clin Pathol 1994, 102: 163-70.
8. Candanedo-Gonzalez FA, Alvarado-Cabrero I, Gamboa-Dominguez A, et al. Sporadic type composite pheochromocytoma with neuroblastoma: clinicomorphologic, DNA content and ret gene analysis. Endocr Pathol 2001, 12: 343-50.
9. Miettinen M, Saari A. Pheochromocytoma combined with malignant schwannoma: unusual neoplasm of the adrenal medulla. Ultrastruct Pathol 1988, 12: 513-27.
10. Juarez D, Brown RW, Ostrowski M, Reardon MJ, Lechago J, Truong LD. Pheochromocytoma associated with neuroendocrine carcinoma. A new type of composite pheochromocytoma. Arch Pathol Lab Med 1999, 123: 1274-9.
11. Pathmanathan N, Murali R. Composite phaeochromocytoma with intratumoural metastatic squamous cell carcinoma. Pathology 2003, 35: 263-5.
12. Inoue J, Oishi S, Naomi S, Umeda T, Sato T. Pheochromocytoma associated with adrenocortical adenoma: case report and literature review. Endocrinol Jpn 1986, 33: 67-74.
13. Morimoto S, Sasaki S, Moriguchi J, et al. Unique association of pheochromocytoma with contralateral nonfunctioning adrenal cortical adenoma. Am J Hypertens 1998, 11: 117-21.
14. Harach HR, Laidler P. Combined spindle cell sarcoma/phaeochromocytoma of the adrenal. Histopathology 1993, 23: 567-9.
15. Satake H, Inoue K, Kamada M, Watanabe H, Furihata M, Shuin T. Malignant composite pheochromocytoma of the adrenal gland in a patient with von Recklinghausen's disease. J Urol 2001, 165: 1199-200.
16. Brady S, Lechan RM, Schwaitzberg SD, Dayal Y, Ziar J, Tischler AS. Composite pheochromocytoma/ganglioneuroma of the adrenal gland associated with multiple endocrine neoplasia 2A: case report with immunohistochemical analysis. Am J Surg Pathol 1997, 21: 102-8.
17. Matias-Guiu X, Garrastazu MT. Composite phaeochromocytoma- ganglioneuroblastoma in a patient with multiple endocrine neoplasia type IIA. Histopathology 1998, 32: 281-2.
18. Lonser RR, Glenn GM, Walther M, et al. von Hippel-Lindau disease. Lancet 2003, 361: 2059-67.
19. Trump DL, Livingston JN, Baylin SB. Watery diarrhea syndrome in an adult with ganglioneuroma-pheochromocytoma: identification of vasoactive intestinal peptide, calcitonin, and catecholamines and assessment of their biologic activity. Cancer 1977, 40: 1526-32.
20. Kloos RT, Gross MD, Francis IR, Korobkin M, Shapiro B. Incidentally discovered adrenal masses. Endocr Rev 1995, 16: 460-84.
21. Bernini GP, Argenio GF, Vivaldi MS, et al. Utility of plasma dehydroepiandrosterone sulphate determination in adrenal incidentalomas. J Endocrinol Invest 1998, 21: 365-71.
22. Aiba M, Hirayama A, Ito Y, et al. A compound adrenal medullary tumor (pheochromocytoma and ganglioneuroma) and a cortical adenoma in the ipsilateral adrenal gland. A case report with enzyme histochemical and immunohistochemical studies. Am J Surg Pathol 1988, 12: 559-66.
23. Mantero F, Terzolo M, Arnaldi G, Ali A, et al. A survey on adrenal incidentaloma in Italy. Study Group on Adrenal Tumors of the Italian Society of Endocrinology. J Clin Endocrinol Metab 2000, 85: 637-44.
24. Rojiani AM, Owen DA, Berry K, et al. Hepatic hemangioblastoma. An unusual presentation in a patient with von Hippel-Lindau disease. Am J Surg Pathol 1991, 15: 81-6.
25. Hayasaka K, Tanaka Y, Satoh T, Mutoh H. Hepatic hemangioblastoma: an unusual presentation of von Hippel-Lindau disease. J Comput Assist Tomogr 1999, 23: 565-6.
26. Haase VH, Glickman JN, Socolovsky M, Jaenisch R. Vascular tumors in livers with targeted inactivation of the von Hippel-Lindau tumor suppressor. Proc Natl Acad Sci U S A 2001, 98: 1583-8.
27. Ma W, Tessarollo L, Hong SB, et al. Hepatic vascular tumors, angiectasis in multiple organs, and impaired spermatogenesis in mice with conditional inactivation of the VHL gene. Cancer Res 2003, 63: 5320-8.
28. Ang SO, Chen H, Hirota K, et al. Disruption of oxygen homeostasis underlies congenital Chuvash polycythemia. Nat Genet 2002, 32: 614-21.