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Eunice Kennedy Shriver National Institute of Child Health and Human Development - Program in Reproductive and Adult Endocrinology
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Section on Medical Neuroendocrinology (SMN)

Head: Karel Pacak, M.D., Ph.D.

Dr Pacak has a fair complexion.  He is a friendly looking gentleman with reddish hair. He is wearing a white lab coat and smiling
The Section on Medical Neuroendocrinology (SMN), under the direction of Dr. Karel Pacak, has made significant contributions in the neuroendocrine area, particularly with respect to pheochromocytoma. The section used micro CT for early diagnosis of ectopic pheochromocytoma tumor in the liver of the nude mouse, a technique that can be applied to humans and would be an excellent way to diagnose early small metastases. In addition, members of the section noted that mutations of the SDHB gene are associated with one-half of all malignancies originating from extra-adrenal paragangliomas. The high frequency of SDHB germline mutations among patients with malignant disease, particularly when such disease originates from adrenal paraganglioma, may justify a high priority for SDHB germline mutation testing in such patients.

Read more: Pheochromocytoma and Paraganglioma

10 Most Recent Publications

Superiority of [68Ga]-DOTATATE PET/CT to other functional imaging modalities in the localization of SDHB-associated metastatic pheochromocytoma and paraganglioma.
Janssen I, Blanchet EM, Adams K, Chen CC, Millo C, Herscovitch P, Taieb D, Kebebew E, Lehnert H, Fojo AT, Pacak K.
Clin Cancer Res. 2015 Apr 14. pii: clincanres.2751.2014. [Epub ahead of print]
PMID: 25873086

Preoperative Imaging Features are Associated with Surgical Complications Following Carotid Body Tumor Resection.
Straughan DM, Neychev VK, Sadowski SM, Ellis RJ, Thomas F, Patronas NJ, Pacak K, Kebebew E, Nilubol N.
World J Surg. 2015 Apr 4. [Epub ahead of print]
PMID: 25840820

Carney Triad, SDH-deficient tumors, and Sdhb+/- mice share abnormal mitochondria.
Szarek E, Ball ER, Imperiale A, Tsokos M, Faucz FR, Giubellino A, Moussallieh FM, Namer IJ, Abu-Asab M, Pacak K, Taieb D, Carney A, Stratakis CA.
Endocr Relat Cancer. 2015 Mar 25. pii: ERC-15-0069. [Epub ahead of print]
PMID: 25808178

SDHB/SDHA immunohistochemistry in pheochromocytomas and paragangliomas: a multicenter interobserver variation analysis using virtual microscopy: a Multinational Study of the European Network for the Study of Adrenal Tumors (ENS@T).
Papathomas TG, Oudijk L, Persu A, Gill AJ, van Nederveen F, Tischler AS, Tissier F, Volante M, Matias-Guiu X, Smid M, Favier J, Rapizzi E, Libe R, Currás-Freixes M, Aydin S, Huynh T, Lichtenauer U, van Berkel A, Canu L, Domingues R, Clifton-Bligh RJ, Bialas M, Vikkula M, Baretton G, Papotti M, Nesi G, Badoual C, Pacak K, Eisenhofer G, Timmers HJ, Beuschlein F, Bertherat J, Mannelli M, Robledo M, Gimenez-Roqueplo AP, Dinjens WN, Korpershoek E, de Krijger RR.
Mod Pathol. 2015 Feb 27. doi: 10.1038/modpathol.2015.41. [Epub ahead of print]
PMID: 25720320

Pheochromocytoma and Paraganglioma.
Pacak K, Wimalawansa SJ.
Endocr Pract. 2015 Feb 25:1-20. [Epub ahead of print]
PMID: 25716634

Pituitary adenoma with paraganglioma/pheochromocytoma (3PAs) and succinate dehydrogenase defects in human and mice.
Xekouki P, Szarek E, Bullova P, Giubellino A, Quezado M, Mastroyannis SA, Mastorakos P, Wassif CA, Raygada M, Rentia N, Dye L, Cougnoux A, Koziol D, de La Luz Sierra M, Lyssikatos C, Belyavskaya E, Malchoff C, Moline J, Eng C, Maher LJ Third, Pacak K, Lodish M, Stratakis CA.
J Clin Endocrinol Metab. 2015 Feb 19:jc20144297. [Epub ahead of print]
PMID: 25695889

Association of urinary bladder paragangliomas with germline mutations in the SDHB and VHL genes.
Martucci VL, Lorenzo ZG, Weintraub M, Del Rivero J, Ling A, Merino M, Siddiqui M, Shuch B, Vourganti S, Linehan WM, Agarwal PK, Pacak K.
Urol Oncol. 2015 Feb 12. pii: S1078-1439(14)00438-4. doi: 10.1016/j.urolonc.2014.11.017. [Epub ahead of print]
PMID: 25683602

Metabolome profiling by HRMAS NMR spectroscopy of pheochromocytomas and paragangliomas detects SDH deficiency: clinical and pathophysiological implications.
Imperiale A, Moussallieh FM, Roche P, Battini S, Cicek AE, Sebag F, Brunaud L, Barlier A, Elbayed K, Loundou A, Bachellier P, Goichot B, Stratakis CA, Pacak K, Namer IJ, Taïeb D.
Neoplasia. 2015 Jan;17(1):55-65. doi: 10.1016/j.neo.2014.10.010.
PMID: 25622899

Genotype-specific differences in the tumor metabolite profile of pheochromocytoma and paraganglioma using untargeted and targeted metabolomics.
Rao JU, Engelke UF, Sweep FC, Pacak K, Kusters B, Goudswaard AG, Hermus AR, Mensenkamp AR, Eisenhofer G, Qin N, Richter S, Kunst HP, Timmers HJ, Wevers RA.
J Clin Endocrinol Metab. 2015 Feb;100(2):E214-22. doi: 10.1210/jc.2014-2138. Epub 2014 Dec 2.
PMID: 25459911

Total 18F-FDG PET/CT Metabolic Tumor Volume Is Associated With Postoperative Biochemical Response in Patients With Metastatic Pheochromocytomas and Paragangliomas.
Patel D, Mehta A, Nilubol N, Dieckmann W, Pacak K, Kebebew E.
Ann Surg. 2014 Nov 17. [Epub ahead of print]
PMID: 25405562

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