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Familial renal cancer as an indicator of hereditary leiomyomatosis and renal cell cancer syndrome

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Abstract

Hereditary Leiomyomatosis and Renal Cell Carcinoma (HLRCC) is a hereditary condition which typically presents with cutaneous and uterine leiomyomata. Papillary type II renal cell carcinoma and other less common histologic subtypes of renal cancer have been reported in HLRCC. We describe the case of a 31-year-old man in which the pathology review of his renal carcinoma and a positive family history of renal carcinoma allowed for the identification of a pathogenic mutation in the FH gene (c.698G>A;p.R233H) confirming the diagnosis of HLRCC. Recognition of this syndrome allowed for appropriate surveillance as well as identification of at-risk family members. Pathology review is essential for accurate diagnosis of a hereditary cancer syndrome in the setting of familial renal cancer.

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Abbreviations

HLRCC:

Hereditary leiomyomatosis and renal cell carcinoma

MCUL:

Multiple cutaneous and uterine leiomyomata

vHL:

von Hippel-Lindau syndrome

BHD:

Birt-Hogg-Dubé syndrome

HPGL:

Hereditary paraganglioma syndrome

HPRC:

Hereditary papillary renal carcinoma

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Authors and Affiliations

  1. Department of Internal Medicine, University of Michigan, Ann Arbor, MI, 48109-2200, USA

    Victoria M. Raymond, Casey M. Herron & Stephen B. Gruber

  2. Department of Pathology, University of Michigan, Ann Arbor, MI, 48109-2200, USA

    Thomas J. Giordano

  3. Departments of Epidemiology and Human Genetics, University of Michigan, 1524 BSRB, 109 Zina Pitcher Road, Ann Arbor, MI, 48109-2200, USA

    Stephen B. Gruber

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  1. Victoria M. Raymond
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  2. Casey M. Herron
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  3. Thomas J. Giordano
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  4. Stephen B. Gruber
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Correspondence to Stephen B. Gruber.

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Raymond, V.M., Herron, C.M., Giordano, T.J. et al. Familial renal cancer as an indicator of hereditary leiomyomatosis and renal cell cancer syndrome. Familial Cancer 11, 115–121 (2012). https://doi.org/10.1007/s10689-011-9485-3

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