Aryl hydrocarbon receptor interacting protein mutations seem not to associate with familial non-medullary thyroid cancer

A Raitila, M Georgitsi, E Bonora, M Vargiolu, K Tuppurainen, M J Mäkinen, O Vierimaa, P I Salmela, Virpi Launonen, P Vahteristo, L A Aaltonen, G Romeo, A Karhu

    Research output: Contribution to journalArticleScientificpeer-review

    Abstract

    Background: Over 95% of all thyroid malignancies are non-medullary thyroid carcinomas (NMTC). Familial NMTC are more aggressive and mortality is higher as compared with sporadic carcinomas. Known genetic factors do not explain all familial NMTC. Recently, thyroid disorders have been observed in families with germline mutations in aryl hydrocarbon receptor interacting protein (AIP) but, due to frequent occurrence of these conditions in the population, the significance of this co-occurrence is not clear. Aim, subjects and methods: To examine whether AIP is involved in familial NMTC, we performed AIP mutation screening in 93 familial NMTC cases. In addition, the AIP status was studied in one follicular thyroid adenoma patient with a known AIP mutation from an additional cohort. Results: No potentially pathogenic changes were identified, but two likely rare polymorphisms were detected. AIP mutation-positive patient's follicular thyroid adenoma showed no loss of heterozygosity or lack of immunohistochemical AIP staining. Conclusion: Our study indicates that germline Alp mutations are rare or do not exist in familial NMTC. (J. Endocrinol. Invest. 32: 426-429, 2009) (C) 2009, Editrice Kurtis
    Original languageEnglish
    JournalJournal of Endocrinological Investigation
    Volume32
    Issue number5
    Pages (from-to)426-429
    Number of pages4
    ISSN0391-4097
    Publication statusPublished - 2009
    MoE publication typeA1 Journal article-refereed

    Fields of Science

    • 311 Basic medicine

    Cite this

    Raitila, A ; Georgitsi, M ; Bonora, E ; Vargiolu, M ; Tuppurainen, K ; Mäkinen, M J ; Vierimaa, O ; Salmela, P I ; Launonen, Virpi ; Vahteristo, P ; Aaltonen, L A ; Romeo, G ; Karhu, A. / Aryl hydrocarbon receptor interacting protein mutations seem not to associate with familial non-medullary thyroid cancer. In: Journal of Endocrinological Investigation. 2009 ; Vol. 32, No. 5. pp. 426-429.
    @article{777c93f5d9d44e24ba20e6c23b174473,
    title = "Aryl hydrocarbon receptor interacting protein mutations seem not to associate with familial non-medullary thyroid cancer",
    abstract = "Background: Over 95{\%} of all thyroid malignancies are non-medullary thyroid carcinomas (NMTC). Familial NMTC are more aggressive and mortality is higher as compared with sporadic carcinomas. Known genetic factors do not explain all familial NMTC. Recently, thyroid disorders have been observed in families with germline mutations in aryl hydrocarbon receptor interacting protein (AIP) but, due to frequent occurrence of these conditions in the population, the significance of this co-occurrence is not clear. Aim, subjects and methods: To examine whether AIP is involved in familial NMTC, we performed AIP mutation screening in 93 familial NMTC cases. In addition, the AIP status was studied in one follicular thyroid adenoma patient with a known AIP mutation from an additional cohort. Results: No potentially pathogenic changes were identified, but two likely rare polymorphisms were detected. AIP mutation-positive patient's follicular thyroid adenoma showed no loss of heterozygosity or lack of immunohistochemical AIP staining. Conclusion: Our study indicates that germline Alp mutations are rare or do not exist in familial NMTC. (J. Endocrinol. Invest. 32: 426-429, 2009) (C) 2009, Editrice Kurtis",
    keywords = "311 Basic medicine",
    author = "A Raitila and M Georgitsi and E Bonora and M Vargiolu and K Tuppurainen and M{\"a}kinen, {M J} and O Vierimaa and Salmela, {P I} and Virpi Launonen and P Vahteristo and Aaltonen, {L A} and G Romeo and A Karhu",
    year = "2009",
    language = "English",
    volume = "32",
    pages = "426--429",
    journal = "Journal of Endocrinological Investigation",
    issn = "0391-4097",
    publisher = "EDITRICE KURTIS S.R.L",
    number = "5",

    }

    Raitila, A, Georgitsi, M, Bonora, E, Vargiolu, M, Tuppurainen, K, Mäkinen, MJ, Vierimaa, O, Salmela, PI, Launonen, V, Vahteristo, P, Aaltonen, LA, Romeo, G & Karhu, A 2009, 'Aryl hydrocarbon receptor interacting protein mutations seem not to associate with familial non-medullary thyroid cancer', Journal of Endocrinological Investigation, vol. 32, no. 5, pp. 426-429.

    Aryl hydrocarbon receptor interacting protein mutations seem not to associate with familial non-medullary thyroid cancer. / Raitila, A; Georgitsi, M; Bonora, E; Vargiolu, M; Tuppurainen, K; Mäkinen, M J; Vierimaa, O; Salmela, P I; Launonen, Virpi; Vahteristo, P; Aaltonen, L A; Romeo, G; Karhu, A.

    In: Journal of Endocrinological Investigation, Vol. 32, No. 5, 2009, p. 426-429.

    Research output: Contribution to journalArticleScientificpeer-review

    TY - JOUR

    T1 - Aryl hydrocarbon receptor interacting protein mutations seem not to associate with familial non-medullary thyroid cancer

    AU - Raitila, A

    AU - Georgitsi, M

    AU - Bonora, E

    AU - Vargiolu, M

    AU - Tuppurainen, K

    AU - Mäkinen, M J

    AU - Vierimaa, O

    AU - Salmela, P I

    AU - Launonen, Virpi

    AU - Vahteristo, P

    AU - Aaltonen, L A

    AU - Romeo, G

    AU - Karhu, A

    PY - 2009

    Y1 - 2009

    N2 - Background: Over 95% of all thyroid malignancies are non-medullary thyroid carcinomas (NMTC). Familial NMTC are more aggressive and mortality is higher as compared with sporadic carcinomas. Known genetic factors do not explain all familial NMTC. Recently, thyroid disorders have been observed in families with germline mutations in aryl hydrocarbon receptor interacting protein (AIP) but, due to frequent occurrence of these conditions in the population, the significance of this co-occurrence is not clear. Aim, subjects and methods: To examine whether AIP is involved in familial NMTC, we performed AIP mutation screening in 93 familial NMTC cases. In addition, the AIP status was studied in one follicular thyroid adenoma patient with a known AIP mutation from an additional cohort. Results: No potentially pathogenic changes were identified, but two likely rare polymorphisms were detected. AIP mutation-positive patient's follicular thyroid adenoma showed no loss of heterozygosity or lack of immunohistochemical AIP staining. Conclusion: Our study indicates that germline Alp mutations are rare or do not exist in familial NMTC. (J. Endocrinol. Invest. 32: 426-429, 2009) (C) 2009, Editrice Kurtis

    AB - Background: Over 95% of all thyroid malignancies are non-medullary thyroid carcinomas (NMTC). Familial NMTC are more aggressive and mortality is higher as compared with sporadic carcinomas. Known genetic factors do not explain all familial NMTC. Recently, thyroid disorders have been observed in families with germline mutations in aryl hydrocarbon receptor interacting protein (AIP) but, due to frequent occurrence of these conditions in the population, the significance of this co-occurrence is not clear. Aim, subjects and methods: To examine whether AIP is involved in familial NMTC, we performed AIP mutation screening in 93 familial NMTC cases. In addition, the AIP status was studied in one follicular thyroid adenoma patient with a known AIP mutation from an additional cohort. Results: No potentially pathogenic changes were identified, but two likely rare polymorphisms were detected. AIP mutation-positive patient's follicular thyroid adenoma showed no loss of heterozygosity or lack of immunohistochemical AIP staining. Conclusion: Our study indicates that germline Alp mutations are rare or do not exist in familial NMTC. (J. Endocrinol. Invest. 32: 426-429, 2009) (C) 2009, Editrice Kurtis

    KW - 311 Basic medicine

    M3 - Article

    VL - 32

    SP - 426

    EP - 429

    JO - Journal of Endocrinological Investigation

    JF - Journal of Endocrinological Investigation

    SN - 0391-4097

    IS - 5

    ER -