Test Catalog

Test ID: HK36M    
Histone H3 K36M Mutant (H3F3 K36M) Immunostain, Technical Component Only

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

Diagnosis of chondroblastoma

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

Histone H3 K36M is a mutation in the H3F3A or H3F3B gene, encoding for histone H3.3. The H3 K36M protein impairs the differentiation of mesenchymal progenitor cells and generates undifferentiated sarcoma in vivo. This mutation is present in 95% of chondroblastomas and is used to confirm this diagnosis.

Interpretation Provides information to assist in interpretation of the test results

This test includes only technical performance of the stain (no pathologist interpretation is performed). Mayo Clinic cannot provide an interpretation of tech only stains outside the context of a pathology consultation. If an interpretation is needed, refer to PATHC / Pathology Consultation for a full diagnostic evaluation or second opinion of the case. All material associated with the case is required. Additional specific stains may be requested as part of the pathology consultation, and will be performed as necessary at the discretion of the Mayo pathologist.

 

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; 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. Cleven A, Hocker S, Briaire-de Bruijn I, et al: Mutation Analysis of H3F3A and H3F3B as a Diagnostic Tool for Giant Cell Tumor of Bone and Chondroblastoma. Am J Surg Pathol 2015;39(11):1576-1583

2. Lu C, Jain S, Hoelper D, et al: Histone H3K36 mutations promote sarcomagenesis through altered histone methylation landscape. Science 2016;352(6287):844-849

3. Chen W, DiFrancesco LM: Chondroblastoma: An Update. Arch Pathol Lab Med 2017;141(6):867-871

4. Amary MF, Berisha F, Mozela R, et al: The H3F3 K36M mutant antibody is a sensitive and specific marker for the diagnosis of chondroblastoma. Histopathology 2016;69(2):121-127