title: A novel type of familial transthyretin amyloidosis, ATTR Asn124Ser, with co-localization of kappa light chains.
abstract: A 68-year-old Italian woman who had a clinical history of thyroidectomy in 2002 presented with slowly progressing renal insufficiency and non-nephrotic proteinurea in 2004. A renal biopsy showed the occurrence of amyloid; the thyroid biopsy previously taken also revealed amyloid infiltration. Other amyloid-containing tissues included bone marrow and heart. The plasma cell level in the bone marrow was found to be less than 5% and both serum and urine samples were positive for a monoclonal kappa light chain band. DNA analysis unexpectedly revealed the presence of a novel transthyretin (TTR) mutation, ATTR Asn124Ser. Histologically, amyloid deposits in the thyroid had a homogeneous appearance with moderate Congophilia. In immunohistochemistry, a kappa light chain antiserum showed positive immunoreactivity with amyloid deposits in the thyroid. Furthermore, a TTR antiserum, anti-TTR50-127, also recognized a number of amyloid deposits stained positive with the kappa light chain antiserum. Overall, the kappa light chain antiserum reacted with most of the amyloid deposits in the thyroid, whereas TTR immunoreactivity was scarcer, with a scattered appearance. In contrast, only the anti-TTR50-127 antiserum labeled amyloid in the kidney, albeit not all deposits. In this study, we report a patient having a novel TTR variant, ATTR Asn124Ser, with co-localization of kappa light chains in the amyloid deposits in the thyroid tissue.
authors.affiliation: Department of Diagnostic Medicine, Graduate School of Medical Sciences, Kumamoto University, 1-1-1 Honjo, Kumamoto 860-0811, Japan.
authors.forename: Joakim
authors.initials: J
authors.lastname: Bergström
authors.forename: Maria Cristina
authors.initials: MC
authors.lastname: Patrosso
authors.forename: Giacomo
authors.initials: G
authors.lastname: Colussi
authors.forename: Maurizio
authors.initials: M
authors.lastname: Salvadore
authors.forename: Silvana
authors.initials: S
authors.lastname: Penco
authors.forename: Giuliana
authors.initials: G
authors.lastname: Lando
authors.forename: Alessandro
authors.initials: A
authors.lastname: Marocchi
authors.forename: Akihiko
authors.initials: A
authors.lastname: Ueda
authors.forename: Masaaki
authors.initials: M
authors.lastname: Nakamura
authors.forename: Yukio
authors.initials: Y
authors.lastname: Ando
mesh_terms: D000368:Aged; D019943:Amino Acid Substitution; D000682:Amyloid / Q000378:metabolism; D028226:Amyloidosis, Familial / Q000235:genetics* / Q000276:immunology / Q000378:metabolism; D001483:Base Sequence; D004247:DNA / Q000235:genetics; D005260:Female; D006801:Humans; D007145:Immunoglobulin kappa-Chains / Q000378:metabolism; D007150:Immunohistochemistry; D017354:Point Mutation; D011228:Prealbumin / Q000235:genetics* / Q000378:metabolism; D013961:Thyroid Gland / Q000276:immunology / Q000378:metabolism
chemical_list: D000682:Amyloid; D007145:Immunoglobulin kappa-Chains; D011228:Prealbumin; D004247:DNA