PARAGANGLIOMA ASSOCIATED WITH CYANOTIC CONGENITAL HEART DISEASE-A CASE SERIES

Program: Abstracts - Orals, Featured Poster Presentations, and Posters
Session: MON 37-82-Pheochromocytoma & Paraganglioma
Clinical
Monday, June 17, 2013: 1:45 PM-3:45 PM
Expo Halls ABC (Moscone Center)

Poster Board MON-40
Adina F. Turcu*, Naser M. Ammash and William F Young Jr.
Mayo Clinic, Rochester, MN
Background: Pheochromocytomas (P) and paragangliomas (PGL) are rare tumors derived from the sympathoadrenal sublineage of the neural crest. Hypoxia and pseudohypoxia have been proposed to play a central role in PPGL tumorigenesis.

Objective: To identify cases with both cyanotic congenital heart disease (CCHD) and PPGL and determine their specific characteristics.

Methods: We performed a retrospective chart review of all cases seen at Mayo Clinic, Rochester, MN, between 1990 and 2012.

Results: We identified 5 cases (4 males and 1 female) of CCHD that were also diagnosed with PGL (2 carotid body tumors; 1 retroperitoneal, parapancreatic; 1 paraspinal; and, 1 aortocaval region). Four of the patients had complex CCHD diagnosed at birth or soon after and had palliative surgical interventions before PGL was diagnosed. One patient had Ebstein’s anomaly with ASD, and underwent corrective surgery after being diagnosed with PGL. All cases of PGL were apparently sporadic. Mean age at diagnosis of the PGL was 34.4 years. All tumors were relatively large at diagnosis (mean, 5.2 cm; range, 3-8.5 cm). One tumor was inoperable, with evidence of invasion into a vertebral body at diagnosis. In 4 of 5 patients the diagnosis of PGL was incidental: 2 noted on neck ultrasound (one performed for transient ischemic attacks, and one prompted by a neck mass observed on physical exam); 1 on abdominal CT scan performed for hematuria; and 1 on CXR, followed by MRI, performed for severe back pain. Two of these tumors were secretory, 1 nonsecretory and 2 were not biochemically investigated prior to removal (a carotid body tumor and an abdominal mass thought to arise from the pancreas, which caused vascular instability during manipulation).

Conclusions: Although a link between CCHD and PPGL has been long recognized, only 5 cases were identified over 22 years in a major referral center, 4 of which were diagnosed incidentally. Patients were younger and had larger tumors than the typical sporadic cases of PPGL. We suggest that physicians should have a high level of suspicion of PPGL in patients with CCHD, as it may further increase their mortality risk, especially during surgical interventions.

Nothing to Disclose: AFT, NMA, WFY Jr.

*Please take note of The Endocrine Society's News Embargo Policy at http://www.endo-society.org/endo2013/media.cfm