Test Catalog

Test ID: IHCFH    
Fumarate Hydratase Immunostain, Technical Component Only

Useful For Suggests clinical disorders or settings where the test may be helpful

Identifying fumarate hydratase-deficient neoplasms

 

Supporting the diagnosis of an atypical smooth muscle tumor over leiomyosarcoma

Clinical Information Discusses physiology, pathophysiology, and general clinical aspects, as they relate to a laboratory test

A ubiquitously expressed mitochondrial enzyme fumarate hydratase (FH) catalyzes the reversible hydration of fumaric acid to yield I-malic acid during the Krebs cycle. Germline mutations in the FH gene cause a predisposition to renal defects like hereditary leiomyomatosis and renal cell carcinoma (HLRCC). While morphologic features are characteristic enough that they can be suspected, FH deficiency or germline DNA testing are necessary for its diagnosis. HLRCC can be associated with multiple cutaneous leiomyomas, uterine leiomyomas, and an aggressive variant of renal cell carcinoma (RCC) frequently occurring in young patients.

Reference Values Describes reference intervals and additional information for interpretation of test results. May include intervals based on age and sex when appropriate. Intervals are Mayo-derived, unless otherwise designated. If an interpretive report is provided, the reference value field will state this.

This is not an orderable test. Order PATHC / Pathology Consultation. The consultant will determine the need for special stains.

Interpretation Provides information to assist in interpretation of the test results

The positive and negative controls are verified as showing appropriate immunoreactivity. If a control tissue is not included on the slide, a scanned image of the relevant quality control tissue is available upon request. Contact 855-516-8404.

 

Interpretation of this test should be performed in the context of the patient's clinical history and other diagnostic tests by a qualified pathologist.

Cautions Discusses conditions that may cause diagnostic confusion, including improper specimen collection and handling, inappropriate test selection, and interfering substances

Clinical Reference Recommendations for in-depth reading of a clinical nature

1. Carter CS, Skala SL, Chinnaiyan AM, et al: Immunohistochemical Characterization of Fumarate Hydratase (FH) and Succinate Dehydrogenase (SDH) in Cutaneous Leiomyomas for Detection of Familial Cancer Syndromes. Am J Surg Pathol 2017 Jun;41(6):801-809

2. Trpkov K, Hes O, Agaimy A, et al: Fumarate Hydratase-deficient Renal Cell Carcinoma Is Strongly Correlated With Fumarate Hydratase Mutation and Hereditary Leiomyomatosis and Renal Cell Carcinoma Syndrome. Am J Surg Pathol 2016 Jun;40(7):865-875

3. Harrison WJ, Andrici J, Maclean F, et al: Fumarate Hydratase-deficient Uterine Leiomyomas Occur in Both the Syndromic and Sporadic Settings. AM J Surg Pathol 2016 May;40(5):599-607

4. Llamas-Velasco M, Requena L, Kutzner H, et al: Fumarate hydratase immunohistochemical staining may help to identify patients with multiple cutaneous and uterine leiomyomatosis (MCUL) and hereditary leiomyomatosis and renal cell cancer (HLRCC) syndrome. J Cutan Pathol 2014 Nov;41(11):859-865