Fumarate Hydratase-deficient Renal Cell Carcinoma Is Strongly Correlated With Fumarate Hydratase Mutation and Hereditary Leiomyomatosis and Renal Cell Carcinoma Syndrome

The American Journal of Surgical Pathology
Kiril TrpkovAnthony J Gill

Abstract

Hereditary leiomyomatosis and renal cell carcinoma syndrome-associated renal cell carcinomas (RCC) are difficult to diagnose prospectively. We used immunohistochemistry (IHC) to identify fumarate hydratase (FH)-deficient tumors (defined as FH negative, 2-succinocysteine [2SC] positive) in cases diagnosed as "unclassified RCC, high grade or with papillary pattern," or "papillary RCC type 2," from multiple institutions. A total of 124 tumors (from 118 patients) were evaluated by IHC for FH and 2SC. An FH deficiency was found in 24/124 (19%) cases. An indeterminate result (only 1 marker abnormal) was found in 27/124 (22%) cases. In a tissue microarray of 776 RCCs of different types, only 2 (0.5%) tumors, initially considered papillary type 2, were FH deficient. FH mutations were found in 19/21 FH-deficient tumors (with confirmed germline mutations in 9 of 9 tumors in which germline status could be assessed) and in 1/26 FH-indeterminate tumors identified by IHC. No FH mutations were found in 2/21 FH-deficient RCCs, 25/26 FH-indeterminate RCCs, and 10/10 RCCs demonstrating FH expression by IHC. Patients with FH-deficient RCC had a median age of 44 years (range, 21 to 65 y). Average tumor size was 8.2 cm (range, 0.9 to 18 cm). FH-def...Continue Reading

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Citations

Oct 21, 2017·International Journal of Molecular Sciences·Kentaro Inamura
Jan 13, 2018·Antioxidants & Redox Signaling·Luksana ChaiswingDaret K St Clair
Dec 15, 2017·Histopathology·Anthony J Gill
May 1, 2018·Current Opinion in Urology·Simpa S SalamiAaron M Udager
Jun 1, 2018·The American Journal of Surgical Pathology·Christopher G PrzybycinJesse K McKenney
Aug 30, 2018·Advances in Anatomic Pathology·Roni M CoxJesse K McKenney
Oct 30, 2018·Journal of Clinical Oncology : Official Journal of the American Society of Clinical Oncology·Sabina SignorettiVictor E Reuter
Dec 7, 2018·Advances in Anatomic Pathology·Mohammed AkhtarTurki Al Hussain
Nov 2, 2018·Archives of Pathology & Laboratory Medicine·Nicole K AndeenMaria S Tretiakova
Apr 16, 2019·Expert Review of Molecular Diagnostics·Giuseppe LucarelliMichele Battaglia
Jun 1, 2017·American Society of Clinical Oncology Educational Book·Jamie D WeyandtW Kimryn Rathmell
Sep 17, 2019·The American Journal of Surgical Pathology·Hubert D LauChia-Sui Kao
Sep 10, 2019·Expert Review of Molecular Diagnostics·Alessia CimadamoreHolger Moch
Apr 7, 2020·The Journal of Clinical Endocrinology and Metabolism·Kentaro SudaYutaka Takahashi
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Aug 3, 2019·Archives of Pathology & Laboratory Medicine·Martin J Magers, Liang Cheng
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Sep 25, 2020·Journal of Biomolecular Structure & Dynamics·Venkatasubramanian HemagowriKirankumar Santhakumar
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Dec 20, 2018·Histopathology·Kiril Trpkov, Ondřej Hes
Aug 3, 2019·Archives of Pharmacal Research·Cody J SchmidlinDonna D Zhang
Jan 8, 2020·Cancers·Reza AlaghehbandanOndrej Hes

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