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Am J Clin Pathol. 2015 Aug;144(2):322-8. doi: 10.1309/AJCP84INGJUVTBME.

Thyroid Pathology Findings in Cowden Syndrome: A Clue for the Diagnosis of the PTEN Hamartoma Tumor Syndrome.

Author information

1
From the Departments of Anatomic Pathology and Department of Anatomic Pathology, Medical Faculty, University of Santiago de Compostela, Santiago de Compostela, Spain; josemanuel.cameselle@usc.es.
2
Departments of Anatomic Pathology and.
3
Endocrinology, Clinical University Hospital, Health Research Institute of Santiago de Compostela, SERGAS, Santiago de Compostela, Spain;
4
From the Departments of Anatomic Pathology and.
5
Galician Public Foundation of Genomic Medicine (FPGMX), Clinical University Hospital, Santiago de Compostela, Spain.
6
Gastroenterology, Hospital do Meixoeiro, SERGAS, Vigo, Spain; and.

Abstract

OBJECTIVES:

PTEN hamartoma tumor syndrome (PHTS) is a hereditary disorder caused by germline inactivating mutations of the PTEN gene. PHTS includes Cowden syndrome and Bannayan-Riley-Ruvalcaba syndrome. We describe how the peculiar pathologic and immunohistochemical thyroid features lead pathologists to suggest PHTS.

METHODS:

A 28-year-old white Spanish woman had a multinodular goiter. Total thyroidectomy was performed after fine-needle aspiration biopsy. Microscopic, immunohistochemical, and molecular analyses of the thyroid lesions were realized.

RESULTS:

The thyroid was multinodular, showing one papillary microcarcinoma, five follicular adenomas, three adenolipomas, 46 tiny adenomatous nodules (microadenomas), scattered foci of adipose tissue, and lymphocytic thyroiditis. Tumors were positive for thyroglobulin, thyroperoxidase, pendrin, cyclin D1, and p27 but negative for calcitonin and PTEN. A germline heterozygous deletion of one adenine at nucleotide 827 in exon 8 of the PTEN gene was confirmed. No BRAF, NRAS, or KRAS somatic mutations were detected in the papillary microcarcinoma, follicular adenoma, adenolipomas, or microadenomas. Negativity for PTEN was also found in the colonic tubulovillous adenoma and the storiform collagenoma.

CONCLUSIONS:

Pathologists play a crucial role in recognizing pathologic thyroid findings associated with PHTS for selecting patients for genetic testing.

KEYWORDS:

Adenolipoma; Cowden syndrome; Ganglioneuroma; Gastrointestinal polyps; Hamartoma; PTEN; PTEN-hamartoma tumor syndrome; Papillary carcinoma; Storiform collagenoma; Thyroid

PMID:
26185318
DOI:
10.1309/AJCP84INGJUVTBME
[Indexed for MEDLINE]

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