Which lab tests are performed to classify pediatric acute lymphoblastic leukemia (ALL) type?

Updated: Jan 03, 2019
  • Author: Vikramjit S Kanwar, MBBS, MBA, MRCP(UK), FAAP; Chief Editor: Jennifer Reikes Willert, MD  more...
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Answer

Laboratory tests that help classify the type of ALL include the following:

  • Immunophenotyping - To detect surface immunoglobulin on leukemic blasts (diagnosis of mature B-cell leukemia) or the expression of T-cell–associated surface antigens (diagnosis of T-lineage ALL)

  • Cytogenetic studies - To identify specific genetic alterations in leukemic blasts

  • Molecular studies (eg, FISH, RT-PCR, Southern blot analysis) - To identify translocations more rapidly and those not detected on routine karyotype analysis; to distinguish lesions that appear cytogenetically identical but are molecularly different

  • Minimal residual disease studies [2] - To detect chimeric transcripts generated by fusion genes, detect clonal TCR or immunoglobulin heavy-chain (IgH) gene rearrangements, or identify a phenotype specific to the leukemic blasts

  • Genome-wide association studies - To detect the presence of genetic changes where routine techniques are unhelpful (eg, activated tyrosine kinase pathways in Ph-like ALL), not in clinical use yet

See Acute Lymphoblastic Leukemia Staging for more complete information.


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