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Rasburicase response

MedGen UID:
450477
Concept ID:
CN078005
Sign or Symptom
Synonym: Elitek response
Drug:
Rasburicase
MedGen UID:
184871
Concept ID:
C0937932
Pharmacologic Substance
A recombinant urate oxidase enzyme isolated from a genetically-modified strain of Saccharomyces cerevisiae. Urate oxidase catalyzes the oxidation of uric acid to the excretable metabolite allantoin, a molecule that is 5-10 times more water-soluble than uric acid. An enzyme that occurs endogenously in most mammals, urate oxidase is not found in humans. (NCI04) [from NCI]
 
Gene (location): G6PD (Xq28)

Definition

Rasburicase is a drug that lowers uric acid levels and is used to treat or prevent hyperuricemia. It is contraindicated in patients with G6PD deficiency, a condition resulting from variants within the G6PD gene, which increases susceptibility to hemolytic anemia. Although the presence of known G6PD genetic variants may be able to be used to establish a diagnosis of G6PD deficiency, in most cases, a red blood cell G6PD enzyme activity assay remains required to assign G6PD status. Therapeutic guidelines for rasburicase based on G6PD genotype have been published in Clinical Pharmacology and Therapeutics by the Clinical Pharmacogenetics Implementation Consortium (CPIC) and are available on the PharmGKB website. [from PharmGKB]

Additional description

From Medical Genetics Summaries
Rasburicase is a uric oxidase used to treat the high levels of uric acid that are associated with tumor lysis syndrome (TLS). Tumor lysis syndrome is a potentially life-threatening condition caused by rapid break down of tumor cells during chemotherapy. Tumor lysis syndrome is associated with the treatment of aggressive lymphoma and leukemia, but it may also occur with other tumors including solid tumors. Massive cell breakdown results in the release of potassium, phosphate, and uric acid into the circulation. Urate crystals can precipitate in the kidneys, causing acute kidney damage. Prophylaxis and treatment of TLS involve aggressive intravenous (IV) hydration and the use of drugs to lower uric acid levels. Rasburicase breaks down uric acid to a more soluble metabolite (allantoin), which is then eliminated by the kidneys. A by-product of this reaction is hydrogen peroxide, an oxidizing agent. Red blood cells that lack the enzyme glucose-6-phosphate dehydrogenase (G6PD) are sensitive to oxidative damage caused by agents like hydrogen peroxide due to a deficiency in nicotinamide adenine dinucleotide phosphate (NADPH). Once exposed, the red blood cells become rigid, trapped, and are rapidly broken down (hemolysis). This can lead to a deficiency of mature red blood cells (hemolytic anemia) and the production of red blood cells with abnormally high levels of methemoglobin (methemoglobinemia). Approximately 400 million people worldwide have G6PD deficiency. Most of these individuals are asymptomatic. However, they are at risk of life-threating hemolytic reactions and methemoglobinemia if given oxidizing drugs such as rasburicase. Rasburicase is contraindicated in individuals with G6PD deficiency. The FDA-approved drug label states that individuals at higher risk for G6PD deficiency should be screened before starting rasburicase therapy, for example, individuals of African or Mediterranean ancestry. Approximately 12% of African-Americans have G6PD deficiency. A rare cause of methemoglobinemia is a deficiency of antioxidant enzymes such as cytochrome b5 reductase 3 (CYB5R3). The drug label states it is not known whether individuals who have a deficiency of this enzyme, or another enzyme with antioxidant activity, are at increased risk of methemoglobinemia or hemolytic anemia during rasburicase therapy. The Clinical Pharmacogenetics Implementation Consortium (CPIC) has published dosing recommendations for rasburicase based on G6PD phenotype. The CPIC states for individuals with normal G6PD phenotype, there is no reason to withhold rasburicase based on G6PD status. For individuals who are G6PD deficient, with or without hemolytic anemia, rasburicase is contraindicated. For individuals who have a variable G6PD phenotype, G6PD enzyme activity must be measured to ascertain that G6PD status is normal. For cases where rasburicase is contraindicated, alternative drugs include allopurinol.  https://www.ncbi.nlm.nih.gov/books/NBK562585

Professional guidelines

PubMed

Matuszkiewicz-Rowinska J, Malyszko J
Kidney Blood Press Res 2020;45(5):645-660. Epub 2020 Sep 30 doi: 10.1159/000509934. PMID: 32998135
Cairo MS, Coiffier B, Reiter A, Younes A; TLS Expert Panel
Br J Haematol 2010 May;149(4):578-86. Epub 2010 Mar 16 doi: 10.1111/j.1365-2141.2010.08143.x. PMID: 20331465
Coiffier B, Altman A, Pui CH, Younes A, Cairo MS
J Clin Oncol 2008 Jun 1;26(16):2767-78. doi: 10.1200/JCO.2007.15.0177. PMID: 18509186

Curated

Gammal et al, Expanded Clinical Pharmacogenetics Implementation Consortium Guideline for Medication Use in the Context of G6PD Genotype. 2 Sept 2022. Clin Pharmacol Ther.

Therapeutic recommendations

From Medical Genetics Summaries

This section contains excerpted 1 information on gene-based dosing recommendations. Neither this section nor other parts of this review contain the complete recommendations from the sources.

2019 Statement from the US Food and Drug Administration (FDA)

Hemolysis

Rasburicase is contraindicated in patients with G6PD deficiency because hydrogen peroxide is one of the major by-products of the conversion of uric acid to allantoin. In clinical studies, hemolysis occurs in <1% patients receiving rasburicase; severe hemolytic reactions occurred within 2–4 days of the start of rasburicase. Immediately and permanently discontinue rasburicase administration in any patient developing hemolysis. Institute appropriate patient monitoring and support measures (e.g., transfusion support). Screen patients at higher risk for G6PD deficiency (e.g., patients of African or Mediterranean ancestry) prior to starting rasburicase.

Methemoglobinemia

In clinical studies, methemoglobinemia occurred in <1% patients receiving rasburicase. These included cases of serious hypoxemia requiring intervention with medical support measures. It is not known whether patients with deficiency of cytochrome b5 reductase (formerly known as methemoglobin reductase) or of other enzymes with antioxidant activity are at increased risk for methemoglobinemia or hemolytic anemia. Immediately and permanently discontinue rasburicase administration in any patient identified as having developed methemoglobinemia. Institute appropriate monitoring and support measures (e.g., transfusion support, methylene-blue administration).

Please review the complete therapeutic recommendations that are located here: (1).

2014 Statement from the Clinical Pharmacogenetics Implementation Consortium (CPIC)

[…]

As stated above, rasburicase use is contraindicated by the FDA, the European Medicines Agency, and the Pharmaceuticals and Medical Devices Agency in those with G6PD deficiency. If, on the basis of genotyping, a deficient status can be unambiguously assigned to a patient, that would be a sufficient contraindication to the use of rasburicase. However, due to the limitations of genetic testing (discussed above), in most cases it is necessary to perform G6PD enzyme testing to assign G6PD status.

The FDA recommends that patients at higher risk of G6PD deficiency, such as those with African or Mediterranean ancestry, be tested for G6PD deficiency before initiation of rasburicase. However, it should be noted that patients of all ancestries may be G6PD deficient. The drug labels do not specifically mention genetic testing, but with the increased availability of genetic test results some patients may be diagnosed with G6PD deficiency preemptively; if so, such definitive results could be used to preclude prescribing of rasburicase and potentially other oxidative drugs even in the absence of G6PD enzyme activity results.

Pediatrics. Much of the evidence relating G6PD deficiency to rasburicase-induced hemolysis and methemoglobinemia was generated in neonates or children (Supplementary Table S7 online), and thus these guidelines apply to neonates, children, and adults.

Please review the complete therapeutic recommendations that are located here: (2).

1 The FDA labels specific drug formulations. We have substituted the generic names for any drug labels in this excerpt. The FDA may not have labeled all formulations containing the generic drug.

Supplemental Content

Table of contents

    Clinical resources

    Practice guidelines

    • PubMed
      See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.

    Curated

    • CPIC, 2022
      Gammal et al, Expanded Clinical Pharmacogenetics Implementation Consortium Guideline for Medication Use in the Context of G6PD Genotype. 2 Sept 2022. Clin Pharmacol Ther.

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