Germline mutations in PTEN and SDHC in a woman with epithelial thyroid cancer and carotid paraganglioma

Kevin M. Zbuk, A. Patócs, Amy Shealy, Heather Sylvester, Susan Miesfeldt, Charis Eng

Research output: Contribution to journalArticle

19 Citations (Scopus)

Abstract

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. Investigations: 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. Diagnosis: Cowden syndrome due to a germline mutation of PTEN, and pheochromocytoma-paraganglioma syndrome due to a germline mutation of SDHC. Management: 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.

Original languageEnglish
Pages (from-to)608-612
Number of pages5
JournalNature Clinical Practice Oncology
Volume4
Issue number10
DOIs
Publication statusPublished - Oct 2007

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Paraganglioma
Germ-Line Mutation
Thyroid Neoplasms
Multiple Hamartoma Syndrome
Neck
Thorax
Neoplasms
Abdomen
Metanephrine
Carotid Body Tumor
Fibrocystic Breast Disease
Megalencephaly
Urine Specimen Collection
Common Carotid Artery
Genetic Testing
Leiomyoma
Pheochromocytoma
Pelvis
Nuclear Family
Renal Cell Carcinoma

ASJC Scopus subject areas

  • Oncology

Cite this

Germline mutations in PTEN and SDHC in a woman with epithelial thyroid cancer and carotid paraganglioma. / Zbuk, Kevin M.; Patócs, A.; Shealy, Amy; Sylvester, Heather; Miesfeldt, Susan; Eng, Charis.

In: Nature Clinical Practice Oncology, Vol. 4, No. 10, 10.2007, p. 608-612.

Research output: Contribution to journalArticle

Zbuk, Kevin M. ; Patócs, A. ; Shealy, Amy ; Sylvester, Heather ; Miesfeldt, Susan ; Eng, Charis. / Germline mutations in PTEN and SDHC in a woman with epithelial thyroid cancer and carotid paraganglioma. In: Nature Clinical Practice Oncology. 2007 ; Vol. 4, No. 10. pp. 608-612.
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abstract = "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. Investigations: 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. Diagnosis: Cowden syndrome due to a germline mutation of PTEN, and pheochromocytoma-paraganglioma syndrome due to a germline mutation of SDHC. Management: 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.",
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