Federico Canzian, Patrizia Amati, H

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A Gene Predisposing to Familial Thyroid Tumors with Cell Oxyphilia Maps to Chromosome 19p13.2 Federico Canzian, Patrizia Amati, H. Rubén Harach, Jean-Louis Kraimps, Fabienne Lesueur, Jacques Barbier, Pierre Levillain, Giovanni Romeo, Dominique Bonneau The American Journal of Human Genetics Volume 63, Issue 6, Pages 1743-1748 (December 1998) DOI: 10.1086/302164 Copyright © 1998 The American Society of Human Genetics Terms and Conditions

Figure 1 Pedigree of family PL, with haplotype analysis in the region of linkage to susceptibility to thyroid cancer and MNG, on chromosome 19. Circles represent females, and squares represent males; unblackened symbols denote unaffected individuals, blackened symbols denote cases of thyroid cancer, and half-blackened symbols denote cases of MNG. In parentheses are the ages at diagnosis/surgery of the family members affected with NMTC or MNG. Critical recombinations in individuals II-3 and II-5 define a 2-9-5-6-2-2 haplotype that is coinherited with the disease and that is not shared by the unaffected family members. The American Journal of Human Genetics 1998 63, 1743-1748DOI: (10.1086/302164) Copyright © 1998 The American Society of Human Genetics Terms and Conditions

Figure 2 Two well-circumscribed tumors separated by normal thyroid tissue and predominantly composed of papillary structures lined by oxyphil cells (×45; hematoxylin and eosin). The American Journal of Human Genetics 1998 63, 1743-1748DOI: (10.1086/302164) Copyright © 1998 The American Society of Human Genetics Terms and Conditions

Figure 3 Adenoma showing follicular structures lined by cells with oxyphil cytoplasm and regular, sometimes apical nuclei with conspicuous nucleoli. Nuclear grooving and cytoplasmic inclusions are not seen (×220; hematoxylin and eosin). The American Journal of Human Genetics 1998 63, 1743-1748DOI: (10.1086/302164) Copyright © 1998 The American Society of Human Genetics Terms and Conditions

Figure 4 Papillary carcinoma. Oxyphil cells forming papillary (upper left), follicular (upper right), and solid (lower left) structures (×180; hematoxylin and eosin). At the lower right the oxyphil cells show irregular, often-grooved nuclei, an occasional nuclear-cytoplasmic inclusion, and conspicuous nucleoli. Note the fragmented psammoma body at the lower right (×290; hematoxylin and eosin). The American Journal of Human Genetics 1998 63, 1743-1748DOI: (10.1086/302164) Copyright © 1998 The American Society of Human Genetics Terms and Conditions