Germline mutations in PTEN and SDHC in a woman with epithelial thyroid cancer and carotid paraganglioma.
BACKGROUND
A 43-year-old woman presented to a cancer genetics clinic for a genetic risk assessment because of her personal history of multiple neoplasias. At 37 years of age, she was diagnosed with multifocal papillary thyroid cancer, and within a year was further diagnosed with a paraganglioma of the left common carotid artery. Two years later, she was diagnosed with a paraganglioma of the right carotid body. All three tumors were treated with surgical resection. There was no family history of malignancy. Past medical history includes uterine leiomyoma and fibrocystic breast disease. Physical examination revealed macrocephaly and papillomatous papules.


METHODS
CT scan of the neck and thorax, 24-hour urine collection for measurement of metanephrines and catecholamines, MRI of the neck, thorax, and abdomen, metaiodobenzylguanidine scan, germline mutation analysis of PTEN, SDHB, SDHC and SDHD.


METHODS
Cowden syndrome due to a germline mutation of PTEN, and pheochromocytoma-paraganglioma syndrome due to a germline mutation of SDHC.


RESULTS
Clinical surveillance for breast, endometrial, thyroid, and renal cell carcinoma risks associated with Cowden syndrome according to the National Comprehensive Cancer Network guidelines, annual MRI of the neck, thorax, abdomen and pelvis, annual metabolic screening, and where available, annual 18-fluorodopamine PET scanning, predictive genetic testing of both PTEN and SDHC for the patient's daughter and parents.
Zbuk
Kevin M
KM
Genomic Medicine Institute at the Cleveland Clinic, Cleveland, OH, USA.
Patocs
Attila
A
Shealy
Amy
A
Sylvester
Heather
H
Miesfeldt
Susan
S
Eng
Charis
C
D000328:Adult; D002291:Carcinoma, Papillary / Q000235:genetics*; D017536:Carotid Artery, Common; D002345:Carotid Body Tumor / Q000235:genetics*; D005260:Female; D018095:Germ-Line Mutation; D006223:Hamartoma Syndrome, Multiple / Q000175:diagnosis / Q000235:genetics; D006801:Humans; D008565:Membrane Proteins / Q000235:genetics*; D016609:Neoplasms, Second Primary / Q000235:genetics; D009386:Neoplastic Syndromes, Hereditary / Q000175:diagnosis*; D051059:PTEN Phosphohydrolase / Q000235:genetics*; D010235:Paraganglioma / Q000235:genetics*; D013964:Thyroid Neoplasms / Q000235:genetics*; D019043:Vascular Neoplasms / Q000235:genetics*
D008565:Membrane Proteins; C108096:SDHC protein, human; D051059:PTEN Phosphohydrolase