Conventional renal cancer in a patient with fumarate hydratase mutation

Heli J Lehtonen, Ignacio Blanco, Jose M Piulats, Riitta Herva, Virpi Launonen, Lauri A Aaltonen

    Research output: Contribution to journalArticleScientificpeer-review

    Abstract

    Hereditary Ieiomyomatosis and renal cell cancer (HLRCC) is a tumor predisposition syndrome caused by mutations in the fumarate hydratase (FH) gene. HLRCC is characterized by uterine and cutaneous leimyomas, renal cell cancer, and uterine leiomyosarcoma. Typically, renal cell cancers in HLRCC are unilateral and display a papillary type 2 or ductal histology. We describe here a 23-year-old patient carrying a novel FH mutation (N330S) with a bilateral renal cell cancer. Carcinoma of the right kidney showed papillary structure, but the left tumor was diagnosed as a conventional (clear cell) renal carcinoma, a type not previously described in HLRCC. The clear cell renal carcinoma also displayed loss of the normal FH allele and the FH immunostaining. Our finding extends the number of cases in which HLRCC can be suspected, and the FH immunohistochemistry may serve as a useful too] to screen for HLRCC in young individuals with clear cell renal carcinoma. (c) 2007 Elsevier Inc. All rights reserved.
    Original languageEnglish
    JournalHuman Pathology
    Volume38
    Issue number5
    Pages (from-to)793-796
    Number of pages4
    ISSN0046-8177
    DOIs
    Publication statusPublished - 2007
    MoE publication typeA1 Journal article-refereed

    Fields of Science

    • 311 Basic medicine

    Cite this

    Lehtonen, Heli J ; Blanco, Ignacio ; Piulats, Jose M ; Herva, Riitta ; Launonen, Virpi ; Aaltonen, Lauri A. / Conventional renal cancer in a patient with fumarate hydratase mutation. In: Human Pathology. 2007 ; Vol. 38, No. 5. pp. 793-796.
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    title = "Conventional renal cancer in a patient with fumarate hydratase mutation",
    abstract = "Hereditary Ieiomyomatosis and renal cell cancer (HLRCC) is a tumor predisposition syndrome caused by mutations in the fumarate hydratase (FH) gene. HLRCC is characterized by uterine and cutaneous leimyomas, renal cell cancer, and uterine leiomyosarcoma. Typically, renal cell cancers in HLRCC are unilateral and display a papillary type 2 or ductal histology. We describe here a 23-year-old patient carrying a novel FH mutation (N330S) with a bilateral renal cell cancer. Carcinoma of the right kidney showed papillary structure, but the left tumor was diagnosed as a conventional (clear cell) renal carcinoma, a type not previously described in HLRCC. The clear cell renal carcinoma also displayed loss of the normal FH allele and the FH immunostaining. Our finding extends the number of cases in which HLRCC can be suspected, and the FH immunohistochemistry may serve as a useful too] to screen for HLRCC in young individuals with clear cell renal carcinoma. (c) 2007 Elsevier Inc. All rights reserved.",
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    author = "Lehtonen, {Heli J} and Ignacio Blanco and Piulats, {Jose M} and Riitta Herva and Virpi Launonen and Aaltonen, {Lauri A}",
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    Lehtonen, HJ, Blanco, I, Piulats, JM, Herva, R, Launonen, V & Aaltonen, LA 2007, 'Conventional renal cancer in a patient with fumarate hydratase mutation', Human Pathology, vol. 38, no. 5, pp. 793-796. https://doi.org/10.1016/j.humpath.2006.10.011

    Conventional renal cancer in a patient with fumarate hydratase mutation. / Lehtonen, Heli J; Blanco, Ignacio; Piulats, Jose M; Herva, Riitta; Launonen, Virpi; Aaltonen, Lauri A.

    In: Human Pathology, Vol. 38, No. 5, 2007, p. 793-796.

    Research output: Contribution to journalArticleScientificpeer-review

    TY - JOUR

    T1 - Conventional renal cancer in a patient with fumarate hydratase mutation

    AU - Lehtonen, Heli J

    AU - Blanco, Ignacio

    AU - Piulats, Jose M

    AU - Herva, Riitta

    AU - Launonen, Virpi

    AU - Aaltonen, Lauri A

    PY - 2007

    Y1 - 2007

    N2 - Hereditary Ieiomyomatosis and renal cell cancer (HLRCC) is a tumor predisposition syndrome caused by mutations in the fumarate hydratase (FH) gene. HLRCC is characterized by uterine and cutaneous leimyomas, renal cell cancer, and uterine leiomyosarcoma. Typically, renal cell cancers in HLRCC are unilateral and display a papillary type 2 or ductal histology. We describe here a 23-year-old patient carrying a novel FH mutation (N330S) with a bilateral renal cell cancer. Carcinoma of the right kidney showed papillary structure, but the left tumor was diagnosed as a conventional (clear cell) renal carcinoma, a type not previously described in HLRCC. The clear cell renal carcinoma also displayed loss of the normal FH allele and the FH immunostaining. Our finding extends the number of cases in which HLRCC can be suspected, and the FH immunohistochemistry may serve as a useful too] to screen for HLRCC in young individuals with clear cell renal carcinoma. (c) 2007 Elsevier Inc. All rights reserved.

    AB - Hereditary Ieiomyomatosis and renal cell cancer (HLRCC) is a tumor predisposition syndrome caused by mutations in the fumarate hydratase (FH) gene. HLRCC is characterized by uterine and cutaneous leimyomas, renal cell cancer, and uterine leiomyosarcoma. Typically, renal cell cancers in HLRCC are unilateral and display a papillary type 2 or ductal histology. We describe here a 23-year-old patient carrying a novel FH mutation (N330S) with a bilateral renal cell cancer. Carcinoma of the right kidney showed papillary structure, but the left tumor was diagnosed as a conventional (clear cell) renal carcinoma, a type not previously described in HLRCC. The clear cell renal carcinoma also displayed loss of the normal FH allele and the FH immunostaining. Our finding extends the number of cases in which HLRCC can be suspected, and the FH immunohistochemistry may serve as a useful too] to screen for HLRCC in young individuals with clear cell renal carcinoma. (c) 2007 Elsevier Inc. All rights reserved.

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    JO - Human Pathology

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