No evidence of somatic aryl hydrocarbon receptor interacting protein mutations in sporadic endocrine neoplasia

Anniina Raitila, Marianna Georgitsi, Auli Karhu, Karoliina Tuppurainen, Markus J Mäkinen, Karin Birkenkamp-Demtröder, Kaisa Salmenkivi, Torben F Ørntoft, Johanna Arola, Virpi Launonen, Pia Vahteristo, Lauri A Aaltonen

    Forskningsoutput: TidskriftsbidragArtikelVetenskapligPeer review

    Sammanfattning

    Germline mutations in the aryl hydrocarbon receptor interacting protein (AIP) gene were recently observed in patients with pituitary adenoma predisposition (PAP). Though AIP mutation-positive individuals with prolactin-, mixed growth hormone/prolactin-, and ACTH-producing pituitary adenomas as well as non-secreting pituitary adenomas have been reported, most mutationpositive patients have had growth hormone-producing adenomas diagnosed at relatively young age. Pituitary adenomas are also component tumors of some familial endocrine neoplasia syndromes such as multiple endocrine neoplasia type 1 (MEN1) and Carney complex (CNC). Genes underlying MEN1 and CNC are rarely mutated in sporadic pituitary adenomas, but more often in other lesions contributing to these two syndromes. Thus far, the occurrence of somatic AIP mutations has not been studied in endocrine tumors other than pituitary adenomas. Here, we have analyzed 32 pituitary adenomas and 79 other tumors of the endocrine system for somatic AIP mutations by direct sequencing. No somatic mutations were identified. However, two out of nine patients with prolactin-producing adenoma were shown to harbor a Finnish founder mutation (Q14X) with a complete loss of the wild-type allele in the tumors. These results are in agreement with previous studies in that prolactin-producing adenomas are component tumors in PAP. The data also support the previous finding that somatic AIP mutations are not common in pituitary adenomas and suggest that such mutations are rare in other endocrine tumors as well.
    Originalspråkengelska
    TidskriftEndocrine - Related Cancer
    Volym14
    Utgåva3
    Sidor (från-till)901-906
    Antal sidor6
    ISSN1351-0088
    DOI
    StatusPublicerad - 2007
    MoE-publikationstypA1 Tidskriftsartikel-refererad

    Vetenskapsgrenar

    • 311 Basmedicin

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    Raitila, Anniina ; Georgitsi, Marianna ; Karhu, Auli ; Tuppurainen, Karoliina ; Mäkinen, Markus J ; Birkenkamp-Demtröder, Karin ; Salmenkivi, Kaisa ; Ørntoft, Torben F ; Arola, Johanna ; Launonen, Virpi ; Vahteristo, Pia ; Aaltonen, Lauri A. / No evidence of somatic aryl hydrocarbon receptor interacting protein mutations in sporadic endocrine neoplasia. I: Endocrine - Related Cancer. 2007 ; Vol. 14, Nr. 3. s. 901-906.
    @article{e1b9014cfaee48e7981247323483ea83,
    title = "No evidence of somatic aryl hydrocarbon receptor interacting protein mutations in sporadic endocrine neoplasia",
    abstract = "Germline mutations in the aryl hydrocarbon receptor interacting protein (AIP) gene were recently observed in patients with pituitary adenoma predisposition (PAP). Though AIP mutation-positive individuals with prolactin-, mixed growth hormone/prolactin-, and ACTH-producing pituitary adenomas as well as non-secreting pituitary adenomas have been reported, most mutationpositive patients have had growth hormone-producing adenomas diagnosed at relatively young age. Pituitary adenomas are also component tumors of some familial endocrine neoplasia syndromes such as multiple endocrine neoplasia type 1 (MEN1) and Carney complex (CNC). Genes underlying MEN1 and CNC are rarely mutated in sporadic pituitary adenomas, but more often in other lesions contributing to these two syndromes. Thus far, the occurrence of somatic AIP mutations has not been studied in endocrine tumors other than pituitary adenomas. Here, we have analyzed 32 pituitary adenomas and 79 other tumors of the endocrine system for somatic AIP mutations by direct sequencing. No somatic mutations were identified. However, two out of nine patients with prolactin-producing adenoma were shown to harbor a Finnish founder mutation (Q14X) with a complete loss of the wild-type allele in the tumors. These results are in agreement with previous studies in that prolactin-producing adenomas are component tumors in PAP. The data also support the previous finding that somatic AIP mutations are not common in pituitary adenomas and suggest that such mutations are rare in other endocrine tumors as well.",
    keywords = "311 Basic medicine",
    author = "Anniina Raitila and Marianna Georgitsi and Auli Karhu and Karoliina Tuppurainen and M{\"a}kinen, {Markus J} and Karin Birkenkamp-Demtr{\"o}der and Kaisa Salmenkivi and {\O}rntoft, {Torben F} and Johanna Arola and Virpi Launonen and Pia Vahteristo and Aaltonen, {Lauri A}",
    year = "2007",
    doi = "10.1677/ERC-07-0025",
    language = "English",
    volume = "14",
    pages = "901--906",
    journal = "Endocrine - Related Cancer",
    issn = "1351-0088",
    publisher = "BIOSCIENTIFICA LTD",
    number = "3",

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    Raitila, A, Georgitsi, M, Karhu, A, Tuppurainen, K, Mäkinen, MJ, Birkenkamp-Demtröder, K, Salmenkivi, K, Ørntoft, TF, Arola, J, Launonen, V, Vahteristo, P & Aaltonen, LA 2007, 'No evidence of somatic aryl hydrocarbon receptor interacting protein mutations in sporadic endocrine neoplasia', Endocrine - Related Cancer, vol. 14, nr. 3, s. 901-906. https://doi.org/10.1677/ERC-07-0025

    No evidence of somatic aryl hydrocarbon receptor interacting protein mutations in sporadic endocrine neoplasia. / Raitila, Anniina; Georgitsi, Marianna; Karhu, Auli; Tuppurainen, Karoliina; Mäkinen, Markus J; Birkenkamp-Demtröder, Karin; Salmenkivi, Kaisa; Ørntoft, Torben F; Arola, Johanna; Launonen, Virpi; Vahteristo, Pia; Aaltonen, Lauri A.

    I: Endocrine - Related Cancer, Vol. 14, Nr. 3, 2007, s. 901-906.

    Forskningsoutput: TidskriftsbidragArtikelVetenskapligPeer review

    TY - JOUR

    T1 - No evidence of somatic aryl hydrocarbon receptor interacting protein mutations in sporadic endocrine neoplasia

    AU - Raitila, Anniina

    AU - Georgitsi, Marianna

    AU - Karhu, Auli

    AU - Tuppurainen, Karoliina

    AU - Mäkinen, Markus J

    AU - Birkenkamp-Demtröder, Karin

    AU - Salmenkivi, Kaisa

    AU - Ørntoft, Torben F

    AU - Arola, Johanna

    AU - Launonen, Virpi

    AU - Vahteristo, Pia

    AU - Aaltonen, Lauri A

    PY - 2007

    Y1 - 2007

    N2 - Germline mutations in the aryl hydrocarbon receptor interacting protein (AIP) gene were recently observed in patients with pituitary adenoma predisposition (PAP). Though AIP mutation-positive individuals with prolactin-, mixed growth hormone/prolactin-, and ACTH-producing pituitary adenomas as well as non-secreting pituitary adenomas have been reported, most mutationpositive patients have had growth hormone-producing adenomas diagnosed at relatively young age. Pituitary adenomas are also component tumors of some familial endocrine neoplasia syndromes such as multiple endocrine neoplasia type 1 (MEN1) and Carney complex (CNC). Genes underlying MEN1 and CNC are rarely mutated in sporadic pituitary adenomas, but more often in other lesions contributing to these two syndromes. Thus far, the occurrence of somatic AIP mutations has not been studied in endocrine tumors other than pituitary adenomas. Here, we have analyzed 32 pituitary adenomas and 79 other tumors of the endocrine system for somatic AIP mutations by direct sequencing. No somatic mutations were identified. However, two out of nine patients with prolactin-producing adenoma were shown to harbor a Finnish founder mutation (Q14X) with a complete loss of the wild-type allele in the tumors. These results are in agreement with previous studies in that prolactin-producing adenomas are component tumors in PAP. The data also support the previous finding that somatic AIP mutations are not common in pituitary adenomas and suggest that such mutations are rare in other endocrine tumors as well.

    AB - Germline mutations in the aryl hydrocarbon receptor interacting protein (AIP) gene were recently observed in patients with pituitary adenoma predisposition (PAP). Though AIP mutation-positive individuals with prolactin-, mixed growth hormone/prolactin-, and ACTH-producing pituitary adenomas as well as non-secreting pituitary adenomas have been reported, most mutationpositive patients have had growth hormone-producing adenomas diagnosed at relatively young age. Pituitary adenomas are also component tumors of some familial endocrine neoplasia syndromes such as multiple endocrine neoplasia type 1 (MEN1) and Carney complex (CNC). Genes underlying MEN1 and CNC are rarely mutated in sporadic pituitary adenomas, but more often in other lesions contributing to these two syndromes. Thus far, the occurrence of somatic AIP mutations has not been studied in endocrine tumors other than pituitary adenomas. Here, we have analyzed 32 pituitary adenomas and 79 other tumors of the endocrine system for somatic AIP mutations by direct sequencing. No somatic mutations were identified. However, two out of nine patients with prolactin-producing adenoma were shown to harbor a Finnish founder mutation (Q14X) with a complete loss of the wild-type allele in the tumors. These results are in agreement with previous studies in that prolactin-producing adenomas are component tumors in PAP. The data also support the previous finding that somatic AIP mutations are not common in pituitary adenomas and suggest that such mutations are rare in other endocrine tumors as well.

    KW - 311 Basic medicine

    U2 - 10.1677/ERC-07-0025

    DO - 10.1677/ERC-07-0025

    M3 - Article

    VL - 14

    SP - 901

    EP - 906

    JO - Endocrine - Related Cancer

    JF - Endocrine - Related Cancer

    SN - 1351-0088

    IS - 3

    ER -