Novel SDHD gene mutation (H102R) in a patient with metastatic cervical paraganglioma effectively treated by peptide receptor radionuclide therapy

Journal of Clinical Oncology

Volumn 29, Issue 33, 2011, Pages

  Poeppel, Thorsten D ^a   Yuece, Ali ^a   Boy, Christian ^a   Metz, Klaus A ^a   Kaminsky, Elke ^b   Neumann, Hartmut P ^c   Rosenbaum, Sandra J ^a   Mann, Klaus ^a   Moeller, Lars C ^a  

^a UNIVERSITY OF DUISBURG ESSEN   (Germany)

^b Praxis fur Humangenetik   (Germany)

^c UNIVERSITY OF FREIBURG   (Germany)

Author keywords

[No Author keywords available]

Indexed keywords

(3 IODOBENZYL)GUANIDINE; ALKALINE PHOSPHATASE; C REACTIVE PROTEIN; CD56 ANTIGEN; CHROMOGRANIN A; FERRITIN; IODINE 124; ONDANSETRON; RADIOISOTOPE; SUCCINATE DEHYDROGENASE; SYNAPTOPHYSIN; VIMENTIN;

ADULT; ARTICLE; CANCER MORPHOLOGY; CANCER PATIENT; CANCER STAGING; CASE REPORT; CYTOPLASM; ECHOGRAPHY; ELECTROPHORESIS; FEMALE; HUMAN; LIVER BIOPSY; LIVER HISTOLOGY; METASTASIS; MICROCYTIC ANEMIA; MISSENSE MUTATION; MULTIPLE CYCLE TREATMENT; NUCLEAR MAGNETIC RESONANCE IMAGING; PARAGANGLIOMA; PRIORITY JOURNAL; PROTEIN EXPRESSION; UTERINE CERVIX CANCER; WEIGHT REDUCTION;

ADULT; FEMALE; HUMANS; MUTATION; NEOPLASM METASTASIS; OCTREOTIDE; PARAGANGLIOMA; POSITRON-EMISSION TOMOGRAPHY AND COMPUTED TOMOGRAPHY; SUCCINATE DEHYDROGENASE; UTERINE CERVICAL NEOPLASMS; YTTRIUM RADIOISOTOPES;

EID: 81755161606     PISSN: 0732183X     EISSN: 15277755     Source Type: Journal    
DOI: 10.1200/JCO.2011.36.2269     Document Type: Article

References (38)

1. Therasse P, Arbuck SG, Eisenhauer EA, et al.: New guidelines to evaluate the response to treatment in solid tumors. European Organization for Research and Treatment of Cancer, National Cancer Institute of the United States, National Cancer Institute of Canada. J Natl Cancer Inst 92:205-216, 2000
2. Astuti D, Douglas F, Lennard TW, et al.: Germline SDHD mutation in familial phaeochromocytoma. Lancet 357:1181-1182, 2001 (Pubitemid 32378695)
3. Baysal BE, Ferrell RE, Willett-Brozick JE, et al.: Mutations in SDHD, a mitochondrial complex II gene, in hereditary paraganglioma. Science 287:848-851, 2000 (Pubitemid 30084326)
4. Gimm O, Armanios M, Dziema H, et al.: Somatic and occult germ-line mutations in SDHD, a mitochondrial complex II gene, in nonfamilial pheochromocytoma. Cancer Res 60:6822-6825, 2000 (Pubitemid 32059145)
5. Niemann S, Müller U: Mutations in SDHC cause autosomal dominant paraganglioma, type 3. Nat Genet 26:268-270, 2000
6. Boedeker CC, Neumann HP, Offergeld C, et al.: Clinical features of paraganglioma syndromes. Skull Base 19:17-25, 2009
7. Ricketts CJ, Forman JR, Rattenberry E, et al.: Tumor risks and genotype-phenotype-proteotype analysis in 358 patients with germline mutations in SDHB and SDHD. Hum Mutat 31:41-51, 2010
8. Neumann HP, Bausch B, McWhinney SR, et al.: Germ-line mutations in nonsyndromic pheochromocytoma. N Engl J Med 346:1459-1466, 2002 (Pubitemid 34755714)
9. Bayley JP, Devilee P, Taschner PE: The SDH mutation database: An online resource for succinate dehydrogenase sequence variants involved in pheochromocytoma, paraganglioma and mitochondrial complex II deficiency. BMC Med Genet 6:39, 2005
10. Burnichon N, Brière JJ, Libé R, et al.: SDHA is a tumor suppressor gene causing paraganglioma. Hum Mol Genet 19:3011-3020, 2010
11. Benn DE, Gimenez-Roqueplo AP, Reilly JR, et al.: Clinical presentation and penetrance of pheochromocytoma/paraganglioma syndromes. J Clin Endocrinol Metab 91:827-836, 2006 (Pubitemid 43357746)
12. Neumann HP, Pawlu C, Peczkowska M, et al.: Distinct clinical features of paraganglioma syndromes associated with SDHB and SDHD gene mutations. JAMA 292:943-951, 2004 (Pubitemid 39097204)
13. Havekes B, Corssmit EP, Jansen JC, et al.: Malignant paragangliomas associated with mutations in the succinate dehydrogenase D gene. J Clin Endocrinol Metab 92:1245-1248, 2007 (Pubitemid 46556393)
14. Milunsky JM, Maher TA, Michels VV, et al.: Novel mutations and the emergence of a common mutation in the SDHD gene causing familial paraganglioma. Am J Med Genet 100:311-314, 2001 (Pubitemid 32382404)
15. Astrom K, Cohen JE, Willett-Brozick JE, et al.: Altitude is a phenotypic modifier in hereditary paraganglioma type 1: Evidence for an oxygen-sensing defect. Hum Genet 113:228-237, 2003 (Pubitemid 36992281)
16. Timmers HJ, Pacak K, Bertherat J, et al.: Mutations associated with succinate dehydrogenase D-related malignant paragangliomas. Clin Endocrinol 68:561-566, 2008 (Pubitemid 351388709)
17. Papaspyrou K, Rossmann H, Fottner C, et al.: Malignant paraganglioma caused by a novel germline mutation of the succinate dehydrogenase D-gene-a case report. Head Neck 30:964-969, 2008 (Pubitemid 352008958)
18. Erlic Z, Rybicki L, Peczkowska M, et al.: Clinical predictors and algorithm for the genetic diagnosis of pheochromocytoma patients. Clin Cancer Res 15:6378-6385, 2009
19. Neumann HP, Erlic Z, Boedeker CC, et al.: Clinical predictors for germline mutations in head and neck paraganglioma patients: Cost reduction strategy in genetic diagnostic process as fall-out. Cancer Res 69:3650-3656, 2009
20. Koopmans KP, Neels ON, Kema IP, et al.: Molecular imaging in neuroendocrine tumors: Molecular uptake mechanisms and clinical results. Crit Rev Oncol Hematol 71:199-213, 2009
21. van der Harst E, de Herder WW, Bruining HA, et al.: [(123)I] metaiodobenzylguanidine and [(111)In]octreotide uptake in begnign and malignant pheochromocytomas. J Clin Endocrinol Metab 86:685-693, 2001
22. Havekes B, Lai EW, Corssmit EP, et al.: Detection and treatment of pheochromocytomas and paragangliomas: Current standing of MIBG scintigraphy and future role of PET imaging. Q J Nucl Med Mol Imaging 52:419-429, 2008
23. Milardovic R, Corssmit EP, Stokkel M: Value of 123I-MIBG Scintigraphy in Paraganglioma. Neuroendocrinology 91:94-100, 2010
24. Reubi JC, Waser B, Khosla S, et al.: In vitro and in vivo detection of somatostatin receptors in pheochromocytomas and paragangliomas. J Clin Endocrinol Metab 74:1082-1089, 1992
25. Koopmans KP, Jager PL, Kema IP, et al.: 111In-octreotide is superior to 123I-metaiodobenzylguanidine for scintigraphic detection of head and neck paragangliomas. J Nucl Med 49:1232-1237, 2008
26. Kwekkeboom DJ, van Urk H, Pauw BK, et al.: Octreotide scintigraphy for the detection of paragangliomas. J Nucl Med 34:873-878, 1993 (Pubitemid 23174602)
27. Tenenbaum F, Lumbroso J, Schlumberger M, et al.: Comparison of radiolabeled octreotide and meta-iodobenzylguanidine (MIBG) scintigraphy in malignant pheochromocytoma. J Nucl Med 36:1-6, 1995
28. Buchmann I, Henze M, Engelbrecht S, et al.: Comparison of 68Ga-DOTATOC PET and 111In-DTPAOC (Octreoscan) SPECT in patients with neuroendocrine tumours. Eur J Nucl Med Mol Imaging 34:1617-1626, 2007 (Pubitemid 47476920)
29. Gabriel M, Decristoforo C, Kendler D, et al.: 68Ga-DOTA-Tyr3-octreotide PET in neuroendocrine tumors: Comparison with somatostatin receptor scintigraphy and CT. J Nucl Med 48:508-518, 2007 (Pubitemid 47571404)
30. Adjallé R, Plouin PF, Pacak K, et al.: Treatment of malignant pheochromocytoma. Horm Metab Res 41:687-696, 2009
31. Huang H, Abraham J, Hung E, et al.: Treatment of malignant pheochromocytoma/paraganglioma with cyclophosphamide, vincristine, and dacarbazine: Recommendation from a 22-year follow-up of 18 patients. Cancer 113:2020-2028, 2008
32. Joshua AM, Ezzat S, Asa SL, et al.: Rationale and evidence for sunitinib in the treatment of malignant paraganglioma/pheochromocytoma. J Clin Endocrinol Metab 94:5-9, 2009
33. Gedik GK, Hoefnagel CA, Bais E, et al.: 131I-MIBG therapy in metastatic phaeochromocytoma and paraganglioma. Eur J Nucl Med Mol Imaging 35:725-733, 2008
34. Gonias S, Goldsby R, Matthay KK, et al.: Phase II study of high-dose [131I]metaiodobenzylguanidine therapy for patients with metastatic pheochromocytoma and paraganglioma. J Clin Oncol 27:4162-4168, 2009
35. Forrer F, Riedweg I, Maecke HR, et al.: Radiolabeled DOTATOC in patients with advanced paraganglioma and pheochromocytoma. Q J Nucl Med Mol Imaging 52:334-340, 2008
36. Cecchin D, Schiavi F, Fanti S, et al.: Peptide receptor radionuclide therapy in a case of multiple spinal canal and cranial paragangliomas. J Clin Oncol 29:e171-e174, 2011
37. Menda Y, O'Dorisio MS, Kao S, et al.: Phase I trial of 90Y-DOTATOC therapy in children and young adults with refractory solid tumors that express somatostatin receptors. J Nucl Med 51:1524-1531, 2010
38. Van Essen M, Krenning EP, De Jong M, et al.: Peptide receptor radionuclide therapy with radiolabelled somatostatin analogues in patients with somatostatin receptor positive tumours. Acta Oncol 46:723-734, 2007 (Pubitemid 47123757)