From the archives of MD Anderson Cancer Center: Concurrent BCR-ABL1 and CRLF2 rearrangements in B-lymphoblast phase of chronic myeloid leukemia

Ann Diagn Pathol. 2021 Aug:53:151767. doi: 10.1016/j.anndiagpath.2021.151767. Epub 2021 Jun 5.

Abstract

The t(9;22)(q34;q11.2), also known as the Philadelphia (Ph) chromosome, results in BCR-ABL1 fusion residing on the derivative chromosome 22. This translocation is characteristic of chronic myeloid leukemia, but also can occur in a substantial subset of B acute lymphoblastic leukemia (B-ALL) cases. Ph-like B-ALL has a gene expression profile similar to that of BCR-ABL1 positive/Ph-positive B-ALL, but by definition Ph-like B-ALL does not have the sentinel BCR-ABL1 or the Ph chromosome. About half of Ph-like B-ALL cases carry CRLF2 rearrangements. Rare cases of de novo B-ALL with co-occurrence of BCR-ABL1 and CRLF2 rearrangements have been described. To our knowledge, this is the first report of concurrent BCR-ABL1 and CRLF2 rearrangements in blast phase of chronic myeloid leukemia. In this patient, CRLF2 rearrangement was acquired at the time of disease progression to B-lymphoblast phase of chronic myeloid leukemia. We also review the literature and discuss the distinct clinicopathologic, and genomic characteristics of CRLF2 rearranged B-ALL.

Keywords: Acute; BCR-ABL1; CRLF2; Chronic myeloid leukemia; Leukemia; Lymphoblast; Phase.

Publication types

  • Case Reports
  • Review

MeSH terms

  • Anemia / diagnosis
  • Anemia / etiology
  • Antineoplastic Combined Chemotherapy Protocols / therapeutic use
  • Blast Crisis / genetics*
  • Bone Marrow / pathology
  • Disease Progression
  • Fusion Proteins, bcr-abl / genetics*
  • Gene Rearrangement / genetics
  • Genomics
  • Hematopoietic Stem Cell Transplantation / methods
  • Humans
  • Incidental Findings
  • Leukemia, Myelogenous, Chronic, BCR-ABL Positive / blood
  • Leukemia, Myelogenous, Chronic, BCR-ABL Positive / diagnosis*
  • Leukemia, Myelogenous, Chronic, BCR-ABL Positive / pathology
  • Leukemia, Myelogenous, Chronic, BCR-ABL Positive / therapy
  • Male
  • Philadelphia Chromosome
  • Precursor Cell Lymphoblastic Leukemia-Lymphoma / genetics
  • Receptors, Cytokine / genetics*
  • Translocation, Genetic / genetics
  • Treatment Outcome
  • Young Adult

Substances

  • BCR-ABL1 fusion protein, human
  • CRLF2 protein, human
  • Receptors, Cytokine
  • Fusion Proteins, bcr-abl