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Somatic but not germline mutation of the APC gene in a case of cribriform-morular variant of papillary thyroid carcinoma

Title
Somatic but not germline mutation of the APC gene in a case of cribriform-morular variant of papillary thyroid carcinoma
Type
Article in International Scientific Journal
Year
2001
Authors
Cameselle Teijeiro, J
(Author)
Other
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Ruiz Ponte, C
(Author)
Other
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Loidi, L
(Author)
Other
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Suarez Penaranda, J
(Author)
Other
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Balter, J
(Author)
Other
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Sobrinho Simoes, M
(Author)
FMUP
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Journal
Vol. 115
Pages: 486-493
ISSN: 0002-9173
Other information
Authenticus ID: P-000-VW6
Abstract (EN): We report a case of cribriform-morular variant (C-MV) of papillary thyroid carcinoma (PTC) in a 27-year-old woman. In addition to conventional cytologic features of typical PTC, the fine-needle aspirate showed numerous epithelial cells with abundant, eosinophilic, very elongated cytoplasm. Microscopically, the tumor was encapsulated and highly cellular and exhibited a mixture of cribriform, follicular, papillary, trabecular, solid, and spindle cell patterns of growth, with morular foci showing peculiar nuclear clearing (biotin-rich nuclei). The cells were cuboidal or tall, with frequent nuclear pseudostratification and abundant eosinophilic cytoplasm. The nuclei were usually hyperchromatic, with grooving, pallor, and pseudoinclusions. Angioinvasion and foci of capsular invasion were observed. Immunohistochemically, the neoplastic cells showed reactivity for thyroglobulin, epithelial membrane antigen, low- and high-molecular-weight cytokeratins, vimentin, neuron-specific enolase, CD15, estrogen and progesterone receptors, and bcl-2 protein. Molecular genetic analysis of the APC gene revealed a mutation in exon 15 at codon 1309 in tumoral tissue but not in peripheral lymphocytes. These findings support a relationship between the morphologic pattern of the C-MV of PTC and the APC gene and the existence of this variant as a sporadic counterpart of familial adenomatous polyposis-associated thyroid carcinoma.
Language: English
Type (Professor's evaluation): Scientific
No. of pages: 8
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