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Disease/health condition - Cancer
BCR-ABL1 transcript detection and ABL1 transcript
Setting:
2. Laboratory
Tiered Testing Service:
Regional or provincial hospital with laboratory
Assay format
NAAT
Information History
First added in 2019
Purpose type
Diagnosis, Montoring, Prognosis
Purpose
To diagnose and monitor therapy of chronic myeloid leukemia (CML) and CML variants (e.g. neutrophilic CML), and prognosis of acute lymphoblastic leukaemia (ALL).
Specimen types
Venous whole blood, Bone marrow
WHO prequalified or recommended products
N/A
GMDN

44431

Philadelphia chromosome/BCR-ABL mRNA expression IVD, kit, nucleic acid technique (NAT)

A collection of reagents and other associated materials intended to be used for the qualitative and/or quantitative detection of mRNA expression of the Philadelphia chromosome, resulting from translocation t(9;22)(q34; q11) and rearrangement of the BCR and ABL genes, to diagnose, monitor or predict chronic myeloid leukaemia (CML) and/or a subset of acute lymphoblastic leukaemia (ALL) in a clinical specimen, using a nucleic acid technique (NAT).

The medical device term(s), code(s) and definition(s) in this section were retrieved from databases external to WHO. As there might be more than one name, definition and “Nomenclature Code” related to the specific medical device, please consult https://gmdnagency.org GMDN ®. © GMDN Agency 2005-2024
EMDN

W01060299

TEST FOR ACQUIRED GENETIC OR CHROMOSOMAL ALTERATIONS - OTHER

The code(s) and term(s) in this section were observed and retrieved from public databases and have not been validated by health regulatory authorities. Please consult your regulatory agency and EMDN site: https://webgate.ec.europa.eu/dyna2/emdn
WHO supporting publications
Haematolymphoid Tumours WHO Classification of Tumours, 5th Edition, Volume 11, 2024. https://publications.iarc.who.int/Book-And-Report-Series/Who-Classification-Of-Tumours/Haematolymphoid-Tumours-2024 ; World Health Organization. (‎2017)‎. WHO list of priority medical devices for cancer management. World Health Organization. https://iris.who.int/handle/10665/255262 ; World Health Organization. (‎2019)‎. Guide for establishing a pathology laboratory in the context of cancer control. World Health Organization. https://iris.who.int/handle/10665/330664
Technical specifications
N/A
Related Medical Devices in MeDevIS
SAGE IVD recommended inclusion of nucleic acid testing for BCR-ABL1 translocation in patients with chronic myeloid leukemia (CML), noting that the test is highly cost–effective and increases the efficacy of CML therapy. Recommended test purpose: for diagnosis and therapeutic monitoring of CML and CML variants (neutrophilic CML) and prognosis of acute lymphoblastic leukaemia (ALL).
PCR for detecting BCR-ABL1 fusion transcript is the recognized reference method for assessing response to treatment and disease monitoring. Detection of the t(9;22) BCR-ABL1 translocation is recommended in the principal guidelines for the diagnosis and management of chronic myeloid leukemia (CML). The BCR-ABL onco-protein can be targeted with specific inhibitors that are on the WHO EML.
As PCR is the reference standard test, there are no studies of test accuracy or standard assessments of test performance. Strong evidence is available, however, of the importance of assessing BCR-ABL1 and ABL1 transcripts for diagnosis and treatment monitoring. For example, evidence of the effectiveness of treatments for acute myeloid leukaemia as documented in the EML indicates its importance for identifying who will benefit from treatment. Many studies indicate that rising levels of these transcripts after treatment predict a poor clinical outcome.
World Health Organization. (‎2019)‎. The selection and use of essential in vitro diagnostics: report of the second meeting of the WHO Strategic Advisory Group of Experts on In Vitro Diagnostics (‎including the second WHO model list of essential in vitro diagnostics)‎. World Health Organization. https://iris.who.int/handle/10665/329527