Fumarate hydratase (FH) mutated Kidney Cancer
Feb 20, 2022
Hereditary leiomyomatosis and renal cell cancer (HLRCC) is an autosomal dominant syndrome [1]. Tumorigenesis in this syndrome is suggested to result from the deactivation of a gene known as Fumarate hydratase (FH) gene [2-4]. Mutations in this gene can be seen in other cancers [5-7].
At ASCO Genitourinary Cancers Symposium 2022, we published characterization of kidney tumors' molecular and immune landscape with FH mutations concluding that pathogenic and likely pathogenic FH mutated kidney tumors may have a different mutational and immune landscape than variants of undetermined significance and wild type kidney tumors [8].
This addition to the literature will contribute to a growing body of evidence that will help us generate data-driven principles in our fight against cancer.
Dr. Bayan Al Share sharing insights regarding the mutational and immune landscape in FH-mutated kidney cancer during ASCO GU 2022
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This abstract received Conquer Cancer Merit Award at ASCO Genitourinary Cancers Symposium 2022
Link to the Abstract from ASCO website
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Reference:
1. M. Kiuru et al., “Familial cutaneous leiomyomatosis is a two-hit condition associated with renal cell cancer of characteristic histopathology,” Am. J. Pathol., 2001, doi: 9.1016/S0002-9440(10)61757-9.
2. J. R. Toro et al., “Mutations in the fumarate hydratase gene cause hereditary leiomyomatosis and renal cell cancer in families in North America,” Am. J. Hum. Genet., 2003, doi: 10.1086/376435.
3. M. H. Wei et al., “Novel mutations in FH and expansion of the spectrum of phenotypes expressed in families with hereditary leiomyomatosis and renal cell cancer,” J. Med. Genet., 2006, doi: 10.1136/jmg.2005.033506.
4. W. M. Linehan and T. A. Rouault, “Molecular pathways: Fumarate Hydratase-deficient kidney cancer - Targeting the warburg effect in cancer,” Clinical Cancer Research. 2013, doi: 10.1158/1078-0432.CCR-13-0304.
5. L. J. Castro-Vega et al., “Germline mutations in FH confer predisposition to malignant pheochromocytomas and paragangliomas,” Hum. Mol. Genet., 2014, doi: 10.1093/hmg/ddt639.
6. J. Zhang et al., “Germline Mutations in Predisposition Genes in Pediatric Cancer,” N. Engl. J. Med., 2015, doi: 7.1056/nejmoa1508054.
8. Link: https://meetings.asco.org/abstracts-presentations/205667