March 2005         

CANCER GENETICS EVALUATION SECONDARY TO CAROTID BODY TUMORS:
The patient is an 80-year-old Caucasian male, who in 1960 had an area in his left carotid removed, which was later found to be a tumor. He currently has a 2 mm lesion in his right carotid, also felt to be a
paraganglioma.

PAST MEDICAL HISTORY: Significant for two hernia surgeries about eight years ago. He has atrial fibrillation and is on Coumadin.

A CT scan and was found to have 10 lesions in his lungs. These have not been biopsied. The patient is currently undergoing evaluation by a physician in the cancer research center.

SOCIAL HISTORY: He has been married for 57 years. He has a PhD and used to teach at the University.  He does not smoke. He drinks three glasses of wine per day.

FAMILY HISTORY: Significant for the patient's brother being diagnosed with a carotid body tumor at age 66. The patient's father was diagnosed in his 50s with a carotid body tumor died of an aortic aneurysm at age 85. Specifically, there is no history of other endocrine neoplasias, such as thyroid cancer or pheochromocytoma. Furthermore, there is no instance of pancreatic cancer.

The patient has four sons, two of which were diagnosed with carotid body tumors at age 55 and 45, respectively.  One son has had two carotid body tumors excised in his 30s and the other son has
three carotid body tumors diagnosed.  Furthermore, the patient has two nephews and one niece who have been diagnosed with carotid body tumors.  A five-generation pedigree is available in the chart for review.

RADIOLOGY REPORT: 

REASON:  OCTREOTIDE SCAN PRIOR TO OCTREOTIDE RX

PROCEDURE: Multiple spot images were obtained three-hours following intravenous administration of 7.4 mCi of Indium-111 oxime octreotide. SPECT imaging of the chest followed. A nondiagnostic CT scan was performed at the same time for assistance with anatomic localization and for attenuation correction.

FINDINGS: There are numerous foci of increased activity noted. The first two were seen in the region of the tonsils. There were also bilateral neck lymph nodes in the anterior chains. On the right side, this extends down the paratracheal region as small foci. Another node is seen in the left paraaortic region about the level of T7. Bilateral hilar nodes are seen as well as a foci involving the left chest wall, posterior mediastinum, pericardium or possibly the myocardium in the posterior aspect. There are also right esophageal lymph nodes just above the diaphragm and a single right axillary node. Foci are noted in the bodies of T5 and T8.

IMPRESSION:  WIDESPREAD METASTATIC DISEASE DUE TO A NEUROENDOCRINE TUMOR. PARAGANGLIOMA IS LIKELY.

MEDICAL DECISION MAKING/PLAN: The patient's personal and family history is consistent with an autosomal dominant cancer syndrome, most likely a paraganglioma syndrome (PGL 1, PGL 2, PGL 3 or PGL 4). There are known to be germline mutations in three genes for which testing is available. These include succinate dehydrogenase genes (SDHB, SDHD AND SDHC). There are no clinical findings associated with other syndromes (VHL, NF, MEN2) where gangliomas also may occur.

A recent study in JAMA, August 25, 2004 Vol 292 p 943 shows that approximately 15% of patients with paraganglioma will be found to have mutations in SDHB and SDHD.

It is important to note that the SDHD gene is maternally imprinted. The patient's family history is consistent with a maternally imprinted gene in that there are no symptomatic children of females.

The characterization of the patient's lung nodules will be important for phenotype and will also be important for future genotype/phenotype correlation. I have discussed this matter with his physician and he plans to follow up the patient and obtain newer generation PET scan as well as biopsy if feasible.

We have discussed the above cancer syndrome and possible genetic testing options with the family and they are very interested in pursuing the options so that they will know which of their children or grandchildren need to be screened and which may be at population risk.

We will communicate with the University of Pittsburgh and work with them to obtain a genetic etiology for this paraganglioma syndrome.

The patient's family has our information and will follow up with us after they see their physician. We will schedule for a blood draw after we have discussed the cervical steroid epidural with the researchers at the University of Pittsburgh.
 

 

© 2005 Nuclear Education Online

Images courtesy the UAMS Dept of Nuclear Medicine.  You are welcome to submit cases to be included in future newsletters.