Succinate dehydrogenase gene mutations are strongly associated with paraganglioma of the organ of Zuckerkandl - PubMed (original) (raw)

. 2010 Jun 3;17(3):581-8.

doi: 10.1677/ERC-10-0004. Print 2010 Sep.

Karen T Adams, Thanh T Huynh, Tamara Prodanov, Alex Ling, Clara Chen, Suzanne Shusterman, Camilo Jimenez, Maria Merino, Marybeth Hughes, Kendall W Cradic, Dragana Milosevic, Ravinder J Singh, Constantine A Stratakis, Karel Pacak

Affiliations

Succinate dehydrogenase gene mutations are strongly associated with paraganglioma of the organ of Zuckerkandl

Maya B Lodish et al. Endocr Relat Cancer. 2010.

Abstract

Organ of Zuckerkandl paragangliomas (PGLs) are rare neuroendocrine tumors that are derived from chromaffin cells located around the origin of the inferior mesenteric artery extending to the level of the aortic bifurcation. Mutations in the genes encoding succinate dehydrogenase subunits (SDH) B, C, and D (SDHx) have been associated with PGLs, but their contribution to PGLs of the organ of Zuckerkandl PGLs is not known. We aimed to describe the clinical presentation of patients with PGLs of the organ of Zuckerkandl and investigate the prevalence of SDHx mutations and other genetic defects among them. The clinical characteristics of 14 patients with PGL of the organ of Zuckerkandl were analyzed retrospectively; their DNA was tested for SDHx mutations and deletions. Eleven out of 14 (79%) patients with PGLs of the organ of Zuckerkandl were found to have mutations in the SDHB (9) or SDHD (2) genes; one patient was found to have the Carney-Stratakis syndrome (CSS), and his PGL was discovered during surgery for gastrointestinal stromal tumor. Our results show that SDHx mutations are prevalent in pediatric and adult PGLs of the organ of Zuckerkandl. Patients with PGLs of the organ of Zuckerkandl should be screened for SDHx mutations and the CSS; in addition, asymptomatic carriers of an SDHx mutation among the relatives of affected patients may benefit from tumor screening for early PGL detection.

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Conflict of interest statement

Declarations of Interest

There is no conflict of interest that could be perceived as prejudicing the impartiality of the research reported.

Figures

Figure 1

Figure 1

Sites of metastatic disease, n= 14 patients

Figure 2

Figure 2. Diagnostic imaging from patient F,18

(A)123I-metaiodobenzylguanidine (123I-MIBG) anterior maximum intensity projection showing right adrenal mass (dashed arrow) and nodule anterior to vertebrae L5 representing the organ of Zuckerkandl tumor (closed arrow). There is a focus in the mid-portion of the left kidney (open arrow) thought to be due to activity retained in the collecting system. (B) Hybrid single photon emission computed axial tomography (SPECT) and CT (SPECT/CT) 123I-MIBG with contrast of the abdomen showing a 2.6 cm heterogeneously enhancing partially necrotic right adrenal mass (open arrow) and a 1.6 cm enhancing mass anterior to the spine and just inferior to the aortic bifurcation (closed arrow) (C) Surgical photo, arrow indicated the site of tumor below aortic bifurcation

Figure 3

Figure 3. Diagnostic imaging from patient M,34

(A) [18F]-2-fluoro-deoxy-D-glucose(FDG PET/CT) demonstrates an enhancing retroperitoneal mass (closed arrow) (B) Magnetic resonance imaging (MRI) anterior demonstrates two retroperitoneal masses, 4 × 3 and 4 × 2 cm (closed arrows), one at the level of the right renal hilum and the other a periaortic mass between the abdominal aorta and the inferior vena cava (C) Surgical photo demonstrating anatomical site of tumor (closed arrow) and the common iliac artery (open arrow)

Figure 4

Figure 4

Low 4 × (A), medium 10 × (B), and high 40 × (C) power magnification of PGL cells in a representative patient. Immunohistochemistry for synaptophysin showing strong positivity of tumor cells (D)

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