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Classifying Hematologic Malignancies Based on Genetics

Blood; ePub 2017 Jun 9; Taylor, Xiao, Abdel-Wahab

Clinical evaluation of genomic alterations has refined classification of myeloid neoplasms and major forms of lymphomas arising from B-, T-, or natural killer cells, according to a recent review.

The authors describe how genetic alterations define subclasses of patients with acute leukemias, myelodysplastic syndromes (MDS), myeloproliferative neoplasms (MPNs), non-Hodgkin lymphomas, and classical Hodgkin lymphoma. Among the observations:

  • In patients with MDS, detection of mutations in SF3B1 define a subgroup of patients with the ring sideroblast form of MDS and a favorable prognosis.
  • For patients with MPNs, detection of the BCR-ABL1 fusion delineates chronic myeloid leukemia from classic BCR-ABL1 negative MPNs, which are largely defined by mutations in JAK2, CALR, or MPL.
  • In the B-cell lymphomas, detection of characteristic rearrangements involving MYC in Burkitt's lymphoma, BCL2 in follicular lymphoma, and MYC/BCL2/BCL6 in high-grade B-cell lymphomas, are essential for diagnosis.
  • In T-cell lymphomas, anaplastic large-cell lymphoma is defined by mutually exclusive rearrangements of ALK, DUSP22/IRF4, and TP63.


Taylor J, Xiao W, Abdel-Wahab O. Diagnosis and classification of hematologic malignancies on the basis of genetics. [Published online ahead of print June 9, 2017]. Blood. doi:10.1182/blood-2017-02-734541.