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Thyroid pathology in PTEN-hamartoma tumor syndrome: characteristic findings of a distinct entity

Laury, Anna Ray
Kozakewich, Harry
Nosé, Vânia
Published in Thyroid. 2011, vol. 21, no. 2, p. 135-44
Abstract Phosphatase and tensin homolog deleted on chromosome ten (PTEN)-hamartoma tumor syndrome (PHTS) is a complex disorder caused by germline inactivating mutations of the PTEN tumor suppressor gene. PHTS includes Cowden syndrome (CS), Bannayan-Riley-Ruvalcaba syndrome (BRRS), and Proteus-like syndromes. Affected individuals develop both benign and malignant tumors in a variety of tissues, including the thyroid. This study is to better characterize and describe the thyroid pathology within the different entities of this syndrome, and examine whether there is an association between specific thyroid findings and different PTEN mutations.
Keywords Adenoma/pathologyAdolescentAdultAgedChildFemaleHamartoma Syndrome, Multiple/genetics/pathologyHumansHyperplasia/pathologyMaleMiddle AgedMutation/geneticsPTEN Phosphohydrolase/geneticsThyroid Gland/pathologyThyroid Neoplasms/pathologyThyroid Nodule/pathologyThyroiditis/pathologyYoung Adult
PMID: 21190448
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Research groups Groupe Pache Jean-Claude (pathologie clinique) (658)
Métastases du foie (657)
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LAURY, Anna Ray et al. Thyroid pathology in PTEN-hamartoma tumor syndrome: characteristic findings of a distinct entity. In: Thyroid, 2011, vol. 21, n° 2, p. 135-44. doi: 10.1089/thy.2010.0226 https://archive-ouverte.unige.ch/unige:24768

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Deposited on : 2012-12-19

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