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

Nature Clinical Practice Oncology volume 4, pages 608–612 (2007)Cite this article

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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Figure 1: CT scan of the patient's neck.
Figure 2: Chromatogram of sequencing of PTEN.
Figure 3: Chromatogram of sequencing of SDHC.

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Authors and Affiliations

  1. KM Zbuk is a Cancer Genomic Medicine Fellow and Crile Fellow, A Patocs is a Post-Doctoral Fellow, A Shealy is a Genetic Counselor, and C Eng is the Chair and Founding Director of the Genomic Medicine Institute and the Director of the Center for Personalized Genetic Healthcare, all at the Genomic Medicine Institute at the Cleveland Clinic, Cleveland, OH.,

    Kevin M Zbuk, Attila Patocs, Amy Shealy & Charis Eng

  2. H Sylvester is a Genetic Counselor, and S Miesfeldt is a Medical Oncologist and Medical Director of the Cancer Risk and Prevention Clinic, at the Maine Medical Center and Maine Center for Cancer Medicine and Blood Disorders, Scarborough, Maine, ME, USA.,

    Heather Sylvester & Susan Miesfeldt

Authors
  1. Kevin M Zbuk
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  2. Attila Patocs
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  3. Amy Shealy
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  4. Heather Sylvester
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Correspondence to Charis Eng.

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Zbuk, K., Patocs, A., Shealy, A. et al. Germline mutations in PTEN and SDHC in a woman with epithelial thyroid cancer and carotid paraganglioma. Nat Rev Clin Oncol 4, 608–612 (2007). https://doi.org/10.1038/ncponc0935

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