A case of malignant pheochromocytoma with Holt-Oram syndrome

Endocrine Journal

Volumn 55, Issue 1, 2008, Pages 153-159

  Yoshihara, Ai ^a   Tanabe, Akiyo ^a   Saito, Hiroshi ^a   Hizuka, Naomi ^a   Ishizawa, Akira ^b   Horikawa, Reiko ^b   Takano, Kazue ^a  

^a TOKYO WOMEN'S MEDICAL UNIVERSITY   (Japan)

^b NATIONAL CENTER FOR CHILD HEALTH AND DEVELOPMENT   (Japan)

Author keywords

Holt Oram syndrome; Malignant pheochromocytoma

Indexed keywords

ALPHA ADRENERGIC RECEPTOR BLOCKING AGENT; BETA ADRENERGIC RECEPTOR BLOCKING AGENT; CARVEDILOL; CATECHOLAMINE; CYCLOPHOSPHAMIDE; DACARBAZINE; DOXAZOSIN; NORADRENALIN; VINCRISTINE;

ADULT; ALOPECIA; ANOREXIA; ARTICLE; CASE REPORT; CLINICAL FEATURE; CONGENITAL HEART DISEASE; DISEASE COURSE; DISEASE SEVERITY; DRUG DOSE INCREASE; FEMALE; FLUSHING; HEADACHE; HEART FAILURE; HEART MUSCLE ISCHEMIA; HOLT ORAM SYNDROME; HOSPITAL ADMISSION; HUMAN; HYPERTENSION; LIVER DYSFUNCTION; NAUSEA; NORADRENALIN BLOOD LEVEL; PANCYTOPENIA; PHEOCHROMOCYTOMA; PREDICTION; SENSORY DYSFUNCTION; SIDE EFFECT; SURGICAL RISK; ADRENAL TUMOR; ANOXIA; CHRONIC DISEASE; HEART DISEASE; SYNDROME;

ADRENAL GLAND NEOPLASMS; ADULT; ANOXIA; CHRONIC DISEASE; FEMALE; HEART DISEASES; HEART FAILURE; HUMANS; PHEOCHROMOCYTOMA; SYNDROME;

EID: 42049122167     PISSN: 09188959     EISSN: 13484540     Source Type: Journal    
DOI: 10.1507/endocrj.K07E-011     Document Type: Article

References (32)

1. Frota Filho JD, Pereira W, Leiria TL, Vallenas M, Leaes PE, Blacher C, Lucio E, Lucchese FA (1999) Holt-Oram syndrome revisited. Two patients in the same family. Arq Bras Cardiol 73: 429-434.
2. Brockhoff CJ, Kober H, Tsilimingas N, Dapper F, Munzel T, Meinertz T (1999) Holt-Oram syndrome. Circulation 99: 1395-1396.
3. Bohm M (1998) Holt-Oram syndrome. Circulation 98: 2636-2637.
4. Shono S, Higa K, Kumano K, Dan K (1998) Holt-Oram syndrome. Br J Anaesth 80: 856-857.
5. Basson CT, Cowley GS, Solomon SD, Weissman B, Poznanski AK, Traill TA, Seidman JG, Seidman CE (1994) The clinical and genetic spectrum of the Holt-Oram syndrome (heart-hand syndrome). N Engl J Med 330: 885-891.
6. Averbuch SD, Steakley CS, Young RC, Gelmann EP, Goldstein DS, Stull R, Keiser HR (1988) Malignant pheochromocytoma: effective treatment with a combination of cyclophosphamide, vincristine, and dacarbazine. Ann Intern Med 109: 267-273.
7. Yurt A, Arda MN, Vardar E (2005) Metastatic pheochromocytoma of the thoracic spinal extradural space. Case report and review of the literature. Kobe J Med Sci 51: 49-53.
8. Neumann HP, Pawlu C, Peczkowska M, Bausch B, McWhinney SR, Muresan M, Buchta M, Franke G, Klisch J, Bley TA, Hoegerle S, Boedeker CC, Opocher G, Schipper J, Januszewicz A, Eng C (2004) Distinct clinical features of paraganglioma syndromes associated with SDHB and SDHD gene mutations. Jama 292: 943-951.
9. Noshiro T, Honma H, Shimizu K, Kusakari T, Watanabe T, Akama H, Shibukawa S, Miura W, Abe K, Miura Y (1996) Two cases of malignant pheochromocytoma treated with cyclophosphamide, vincristine and dacarbazine in a combined chemotherapy. Endocr J 43: 279-284.
10. Astuti D, Latif F, Dallol A, Dahia PL, Douglas F, George E, Skoldberg F, Husebye ES, Eng C, Maher ER (2001) Gene mutations in the succinate dehydrogenase subunit SDHB cause susceptibility to familial pheochromocytoma and to familial paraganglioma. Am J Hum Genet 69: 49-54.
11. Niemann S, Muller U (2000) Mutations in SDHC cause autosomal dominant paraganglioma, type 3. Nat Genet 26: 268-270.
12. Amar L, Bertherat J, Baudin E, Ajzenberg C, Bressac-de Paillerets B, Chabre O, Chamontin B, Delemer B, Giraud S, Murat A, Niccoli-Sire P, Richard S, Rohmer V, Sadoul JL, Strompf L, Schlumberger M, Bertagna X, Plouin PF, Jeunemaitre X, Gimenez-Roqueplo AP (2005) Genetic testing in pheochromocytoma or functional paraganglioma. J Clin Oncol 23: 8812-8818.
13. Mannelli M, Simi L, Ercolino T, Gagliano MS, Becherini L, Vinci S, Sestini R, Gensini F, Pinzani P, Mascalchi M, Guerrini L, Pratesi C, Nesi G, Torti F, Cipollini F, Bernini GP, Genuardi M (2006) SDH mutations in patients affected by paraganglioma syndromes: a personal experience. Ann N Y Acad Sci 1073: 183-189.
14. Benn DE, Richardson AL, Marsh DJ, Robinson BG (2006) Genetic testing in pheochromocytoma- and paraganglioma-associated syndromes. Ann N Y Acad Sci 1073: 104-111.
15. McDermott DA, Bressan MC, He J, Lee JS, Aftimos S, Brueckner M, Gilbert F, Graham GE, Hannibal MC, Innis JW, Pierpont ME, Raas-Rothschild A, Shanske AL, Smith WE, Spencer RH, St John-Sutton MG, van Maldergem L, Waggoner DJ, Weber M, Basson CT (2005) TBX5 genetic testing validates strict clinical criteria for Holt-Oram syndrome. Pediatr Res 58: 981-986.
16. Kohlhase J, Schubert L, Liebers M, Rauch A, Becker K, Mohammed SN, Newbury-Ecob R, Reardon W (2003) Mutations at the SALL4 locus on chromosome 20 result in a range of clinically overlapping phenotypes, including Okihiro syndrome, Holt-Oram syndrome, acro-renal-ocular syndrome, and patients previously reported to represent thalidomide embryopathy. J Med Genet 40: 473-478.
17. Kita T, Imamura T, Date H, Kitamura K, Moriguchi S, Sato Y, Asada Y, Eto T (2003) Two cases of pheochromocytoma associated with tetralogy of Fallot. Hypertens Res 26: 433-437.
18. Sparks JW, Seefelder C, Shamberger RC, McGowan FX (2005) The perioperative management of a patient with complex single ventricle physiology and pheochromocytoma. Anesth Analg 100: 972-975.
19. de la Monte SM, Hutchins GM, Moore GW (1985) Peripheral neuroblastic tumors and congenital heart disease. Possible role of hypoxic states in tumor induction. Am J Pediatr Hematol Oncol 7: 109-116.
20. Bockelman HW, Arya S, Gilbert EF (1982) Cyanotic congenital heart disease with malignant paraganglioma. Cancer 50: 2513-2517.
21. Stoll C, Alembik Y, Dott B (1995) Complex congenital heart disease, microcephaly, pheochromocytoma and neurofibromatosis type I in a girl born from consanguineous parents. Genet Couns 6: 217-220.
22. Tjeuw M, Fong J (1990) Anaesthetic management of a patient with a single ventricle and phaeochromocytoma. Anaesth Intensive Care 18: 567-569.
23. Dahia PL (2006) Transcription association of VHL and SDH mutations link hypoxia and oxidoreductase signals in pheochromocytomas. Ann N Y Acad Sci 1073: 208-220.
24. Dahia PL, Ross KN, Wright ME, Hayashida CY, Santagata S, Barontini M, Kung AL, Sanso G, Powers JF, Tischler AS, Hodin R, Heitritter S, Moore F, Dluhy R, Sosa JA, Ocal IT, Benn DE, Marsh DJ, Robinson BG, Schneider K, Garber J, Arum SM, Korbonits M, Grossman A, Pigny P, Toledo SP, Nose V, Li C, Stiles CD (2005) A HIF1alpha regulatory loop links hypoxia and mitochondrial signals in pheochromocytomas. PLoS Genet 1: 72-80.
25. Pollard PJ, El-Bahrawy M, Poulsom R, Elia G, Killick P, Kelly G, Hunt T, Jeffery R, Seedhar P, Barwell J, Latif F, Gleeson MJ, Hodgson SV, Stamp GW, Tomlinson IP, Maher ER (2006) Expression of HIF-1alpha, HIF-2alpha (EPAS1), and their target genes in paraganglioma and pheochromocytoma with VHL and SDH mutations. J Clin Endocrinol Metab 91: 4593-4598.
26. Lee S, Nakamura E, Yang H, Wei W, Linggi MS, Sajan MP, Farese RV, Freeman RS, Carter BD, Kaelin WG, Jr., Schlisio S (2005) Neuronal apoptosis linked to EglN3 prolyl hydroxylase and familial pheochromocytoma genes: developmental culling and cancer. Cancer Cell 8: 155-167.
27. Maxwell PH (2005) A common pathway for genetic events leading to pheochromocytoma. Cancer Cell 8: 91-93.
28. Teno S, Tanabe A, Nomura K, Demura H (1996) Acutely exacerbated hypertension and increased inflammatory signs due to radiation treatment for metastatic pheochromocytoma. Endocr J 43: 511-516.
29. Watanabe D, Tanabe A, Naruse M, Tsuiki M, Torii N, Noshiro T, Takano K (2006) Transcatheter arterial embolization for the treatment of liver metastases in a patient with malignant pheochromocytoma. Endocr J 53: 59-66.
30. Schiavi F, Boedeker CC, Bausch B, Peczkowska M, Gomez CF, Strassburg T, Pawlu C, Buchta M, Salzmann M, Hoffmann MM, Berlis A, Brink I, Cybulla M, Muresan M, Walter MA, Forrer F, Valimaki M, Kawecki A, Szutkowski Z, Schipper J, Walz MK, Pigny P, Bauters C, Willet-Brozick JE, Baysal BE, Januszewicz A, Eng C, Opocher G, Neumann HP (2005) Predictors and prevalence of paraganglioma syndrome associated with mutations of the SDHC gene. Jama 294: 2057-2063.
31. Mishra AK, Agarwal G, Kapoor A, Agarwal A, Bhatia E, Mishra SK (2000) Catecholamine cardiomyopathy in bilateral malignant pheochromocytoma: successful reversal after surgery. Int J Cardiol 76: 89-90.
32. Juan D (1982) Pharmacologic agents in the management of pheochromocytoma. South Med J 75: 211-216.