Essential thrombocythemia with the Philadelphia chromosome and BCR-ABL gene rearrangement. An entity distinct from chronic myeloid leukemia and Philadelphia chromosome-negative essential thrombocythemia

Cancer Genet Cytogenet. 1991 Jul 1;54(1):21-5. doi: 10.1016/0165-4608(91)90025-p.

Abstract

A 64-year-old woman presented with a platelet count of 3,225 x 10(9)/L. Bone marrow morphology showed massive megakaryocytic hyperplasia; cytogenetic studies showed the presence of the Philadelphia chromosome (Ph). The presence of a rearrangement involving the major breakpoint cluster region (mbcr) on chromosome 22 was confirmed by Southern blotting techniques. A diagnosis of Ph positive essential thrombocythemia (ET) was made. Such cases constitute less than 5% of patients with ET and it has been proposed that they be considered examples of chronic myelogenous leukemia (CML) because of a shared propensity to progress to blast crisis. An argument is presented for retaining Ph positive ET as an entity separate from Ph negative ET and Ph positive CML.

MeSH terms

  • Blotting, Southern
  • Bone Marrow / pathology
  • Chromosomes, Human, Pair 9
  • DNA, Neoplasm / genetics
  • Diagnosis, Differential
  • Female
  • Humans
  • Leukemia, Myelogenous, Chronic, BCR-ABL Positive / diagnosis*
  • Leukemia, Myelogenous, Chronic, BCR-ABL Positive / genetics
  • Leukemia, Myelogenous, Chronic, BCR-ABL Positive / pathology
  • Middle Aged
  • Protein-Tyrosine Kinases*
  • Proto-Oncogene Proteins / genetics
  • Proto-Oncogene Proteins c-bcr
  • Thrombocythemia, Essential / diagnosis*
  • Thrombocythemia, Essential / genetics
  • Thrombocythemia, Essential / pathology
  • Translocation, Genetic

Substances

  • DNA, Neoplasm
  • Proto-Oncogene Proteins
  • Protein-Tyrosine Kinases
  • BCR protein, human
  • Proto-Oncogene Proteins c-bcr