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Test ID IHCFH Fumarate Hydratase Immunostain, Technical Component Only


Ordering Guidance


This test includes only technical performance of the stain (no pathologist interpretation is performed). If diagnostic consultation by a pathologist is required order PATHC / Pathology Consultation.



Shipping Instructions


Attach the green pathology address label and the pink Immunostain Technical Only label included in the kit to the outside of the transport container.



Specimen Required


Specimen Type: Tissue

Supplies: Immunostain Technical Only Envelope (T693)

Container/Tube: Immunostain Technical Only Envelope

Preferred: 2 unstained positively charged glass slide (25- x 75- x 1-mm) per test ordered; sections 4-microns thick

Acceptable: Formalin-fixed, paraffin-embedded (FFPE) tissue block


Useful For

Identifying fumarate hydratase-deficient neoplasms

 

Supporting the diagnosis of an atypical smooth muscle tumor over leiomyosarcoma

Reflex Tests

Test ID Reporting Name Available Separately Always Performed
IHTOI IHC Initial, Tech Only No No
IHTOA IHC Additional, Tech Only No No

Method Name

Immunohistochemistry (IHC)

Reporting Name

FH IHC, Tech Only

Specimen Type

TECHONLY

Specimen Stability Information

Specimen Type Temperature Time Special Container
TECHONLY Ambient (preferred)
  Refrigerated 

Clinical Information

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 alterations 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) that occurs frequently in young patients.

Reference Values

NA

Interpretation

This test does not include pathologist interpretation; only technical performance of the stain is performed. If an interpretation is required, order PATHC / Pathology Consultation for a full diagnostic evaluation or second opinion of the case.

 

The positive and negative controls are verified as showing appropriate immunoreactivity and documentation is retained at Mayo Clinic Rochester. If a control tissue is not included on the slide, a scanned image of the relevant quality control tissue is available upon request, call 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.

Clinical Reference

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 Jul;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

Day(s) Performed

Monday through Friday

Report Available

1 to 3 days

Test Classification

This test has been cleared, approved, or is exempt by the US Food and Drug Administration and is used per manufacturer's instructions. Performance characteristics were verified by Mayo Clinic in a manner consistent with CLIA requirements.

CPT Code Information

88342-TC, primary

88341-TC, if additional IHC

LOINC Code Information

Test ID Test Order Name Order LOINC Value
IHCFH FH IHC, Tech Only Order only;no result

 

Result ID Test Result Name Result LOINC Value
606335 FH IHC, Tech Only Bill only; no result

Testing Algorithm

For the initial technical component only immunohistochemical (IHC) stain performed, the appropriate bill-only test ID will be reflexed and charged (IHTOI). For each additional technical component only IHC stain performed, an additional bill-only test ID will be reflexed and charged (IHTOA).

Forms

If not ordering electronically, complete, print, and send a Immunohistochemical (IHC)/In Situ Hybridization (ISH) Stains Request (T763) with the specimen.

Mayo Clinic Laboratories | IHC Catalog Additional Information:

mcl-ihc