Which chromosomal abnormalities are found in T-lineage pediatric acute lymphoblastic leukemia (ALL)?

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

T-lineage ALL also has a variety of chromosomal abnormalities with less well-defined prognostic value:

  • Constitutive activation of NOTCH1 signaling is the most common abnormality and secondary to activating mutations in NOTCH1 (>50% of cases of T-ALL), FBXW7 mutations (15% of cases), and t(7;9)(q34;q34.3) (< 1% of cases), and may convey favorable outcome.

  • Genetic lesions also include homeobox (HOX), LMO, and bHLH family members. Amongst the HOX genes TLX1 rearrangement t(10;14)(q24;q11) was thought to confer a favorable prognosis (5-10% cases) and TLX3 rearrangement t(5;14)(q35;q32) less favorable (20-25% cases).


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