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Test Catalog

Test ID: HK27M    
Histone H3 K27M Mutant (H3 K27M) Immunostain, Technical Component Only

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

Identifying the presence of altered H3 K27M protein

Testing Algorithm Delineates situations when tests are added to the initial order. This includes reflex and additional tests.

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).

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

Histone H3 K27M is an alteration in the H3F3A gene, encoding for histone H3.3.This alteration is characteristic of "diffuse midline glioma, H3 K27M-mutant," a new entity in the classification of central nervous system tumors, which carries a poor prognosis. H3 K27M-mutant diffuse midline glioma occurs most commonly in young children but, less frequently, can occur in adults. The most common locations include the brain stem, thalamus, and spinal cord. The term brain stem glioma and diffuse intrinsic pontine glioma (DIPG) were previously used to indicate tumors occurring in the brain stem and pons respectively.

Interpretation Provides information to assist in interpretation of the test results

This test does not include pathologist interpretation; only technical performance of the stain. If 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.

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

Age of a cut paraffin section can affect immunoreactivity. Stability thresholds vary widely among published literature and are antigen-dependent. Best practice is for paraffin sections to be cut within 6 weeks.

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

1. Venneti S, Santi M, Felicella MM, et al: A sensitive and specific histopathologic prognostic marker for H3F3A K27M mutant pediatric glioblastomas. Acta Neuropathol. 2014;128:743-753

2. Bechet D, Gielen GG, Korshunov A, et al: Specific detection of methionine 27 mutation in histone 3 variants (H3K27M) in fixed tissue from high-grade astrocytomas. Acta Neuropathol. 2014;128:733-741

3. Korshunov A, Ryzhova M, Hovestadt V, et al: Integrated analysis of pediatric glioblastoma reveals a subset of biologically favorable tumors with associated molecular prognostic markers. Acta Neuropathol. 2015;129:669-678

4. Schwartzentruber J, Korshunov A, Liu XY, et al: Driver mutations in histone H3.3 and chromatin remodeling genes in paediatric glioblastoma. Nature. 2012;482:226-231