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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

Subclinical phaeochromocytoma.
Mannelli M, Lenders JW, Pacak K, Parenti G, Eisenhofer G.
Best Pract Res Clin Endocrinol Metab. 2012 Aug;26(4):507-15. Epub 2012 May 22.

Warburg Effect's Manifestation in Aggressive Pheochromocytomas and Paragangliomas: Insights from a Mouse Cell Model Applied to Human Tumor Tissue.
Fliedner SM, Kaludercic N, Jiang XS, Hansikova H, Hajkova Z, Sladkova J, Limpuangthip A, Backlund PS, Wesley R, Martiniova L, Jochmanova I, Lendvai NK, Breza J, Yergey AL, Paolocci N, Tischler AS, Zeman J, Porter FD, Lehnert H, Pacak K.
PLoS One. 2012;7(7):e40949. Epub 2012 Jul 31.

Missense mutations in the human SDHB gene increase protein degradation without altering intrinsic enzymatic function.
Yang C, Matro JC, Huntoon KM, Ye DY, Huynh TT, Fliedner SM, Breza J, Zhuang Z, Pacak K.
FASEB J. 2012 Jul 26. [Epub ahead of print]

Combined blockade of signalling pathways shows marked anti-tumour potential in phaeochromocytoma cell lines.
Nölting S, Garcia E, Alusi G, Giubellino A, Pacak K, Korbonits M, Grossman AB.
J Mol Endocrinol. 2012 Jul 25;49(2):79-96. Print 2012.

Pheochromocytoma: implications in tumorigenesis and the actual management.
Shah U, Giubellino A, Pacak K.
Minerva Endocrinol. 2012 Jun;37(2):141-56.

An update on the genetics of pheochromocytoma.
Karasek D, Shah U, Frysak Z, Stratakis C, Pacak K.
J Hum Hypertens. 2012 May 31. doi: 10.1038/jhh.2012.20. [Epub ahead of print]

Staging and functional characterization of pheochromocytoma and paraganglioma by 18F-fluorodeoxyglucose (18F-FDG) positron emission tomography.
Timmers HJ, Chen CC, Carrasquillo JA, Whatley M, Ling A, Eisenhofer G, King KS, Rao JU, Wesley RA, Adams KT, Pacak K.
J Natl Cancer Inst. 2012 May 2;104(9):700-8. Epub 2012 Apr 18.

MAX mutations cause hereditary and sporadic pheochromocytoma and paraganglioma.
Burnichon N, Cascón A, Schiavi F, Morales NP, Comino-Méndez I, Abermil N, Inglada-Pérez L, de Cubas AA, Amar L, Barontini M, de Quirós SB, Bertherat J, Bignon YJ, Blok MJ, Bobisse S, Borrego S, Castellano M, Chanson P, Chiara MD, Corssmit EP, Giacchè M, de Krijger RR, Ercolino T, Girerd X, Gómez-García EB, Gómez-Graña A, Guilhem I, Hes FJ, Honrado E, Korpershoek E, Lenders JW, Letón R, Mensenkamp AR, Merlo A, Mori L, Murat A, Pierre P, Plouin PF, Prodanov T, Quesada-Charneco M, Qin N, Rapizzi E, Raymond V, Reisch N, Roncador G, Ruiz-Ferrer M, Schillo F, Stegmann AP, Suarez C, Taschin E, Timmers HJ, Tops CM, Urioste M, Beuschlein F, Pacak K, Mannelli M, Dahia PL, Opocher G, Eisenhofer G, Gimenez-Roqueplo AP, Robledo M.
Clin Cancer Res. 2012 May 15;18(10):2828-37. Epub 2012 Mar 27.

Genetic screening for von Hippel-Lindau gene mutations in non-syndromic pheochromocytoma: low prevalence and false-positives or misdiagnosis indicate a need for caution.
Eisenhofer G, Vocke CD, Elkahloun A, Huynh TT, Prodanov T, Lenders JW, Timmers HJ, Benhammou JN, Linehan WM, Pacak K.
Horm Metab Res. 2012 May;44(5):343-8. Epub 2012 Mar 21.

NF-κB inhibition significantly upregulates the norepinephrine transporter system, causes apoptosis in pheochromocytoma cell lines and prevents metastasis in an animal model.
Pacak K, Sirova M, Giubellino A, Lencesova L, Csaderova L, Laukova M, Hudecova S, Krizanova O.
Int J Cancer. 2012 Mar 12. doi: 10.1002/ijc.27524. [Epub ahead of print]

Dr Pacak PubMed Author Search