Publication: Novel morphological and genetic features of fumarate hydratase deficient renal cell carcinoma in HLRCC syndrome patients with a tailored therapeutic approach
Novel morphological and genetic features of fumarate hydratase deficient renal cell carcinoma in HLRCC syndrome patients with a tailored therapeutic approach
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Wyvekens, N., Valtcheva, N., Mischo, A., Helmchen, B., Hermanns, T., Choschzick, M., Hötker, A. M., Rauch, A., Mühleisen, B., Akhoundova, D., Weber, A., Moch, H., & Rupp, N. J. (2020). Novel morphological and genetic features of fumarate hydratase deficient renal cell carcinoma in HLRCC syndrome patients with a tailored therapeutic approach. Genes, Chromosomes and Cancer, 59(11), 611–619. https://doi.org/10.1002/gcc.22878
Abstract
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The hereditary leiomyomatosis and renal cell carcinoma syndrome (HLRCC) is defined by germline mutations in the fumarate hydratase (FH) gene and associated with leiomyomas and aggressive renal cell carcinomas with FH deficiency. Here, we comprehensively characterize two new patients with HLRCC syndrome on a morphological, immunohistochemical and genetic level. The patients developed aggressive HLRCC syndrome-associated RCCs, uterine leiomyomas and dermal leiomyomas. One HLRCC syndrome-associated RCC exhibited an unusual morphology wit
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- Wyvekens, Nicolas
- Valtcheva, Nadejda
- Mischo, Axel
- Helmchen, Birgit
- Hermanns, Thomas
- Choschzick, Matthias
- Hötker, Andreas M
- Rauch, Anita
- Mühleisen, Beda
- Akhoundova, Dilara
- Weber, Achim
- Moch, Holger
- Rupp, Niels J
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Wyvekens, N., Valtcheva, N., Mischo, A., Helmchen, B., Hermanns, T., Choschzick, M., Hötker, A. M., Rauch, A., Mühleisen, B., Akhoundova, D., Weber, A., Moch, H., & Rupp, N. J. (2020). Novel morphological and genetic features of fumarate hydratase deficient renal cell carcinoma in HLRCC syndrome patients with a tailored therapeutic approach. Genes, Chromosomes and Cancer, 59(11), 611–619. https://doi.org/10.1002/gcc.22878
