Lineage switch and multilineage involvement in two cases of pH chromosome-positive acute leukemia: evidence for a stem cell disease

Haematologica. 1994 Jan-Feb;79(1):76-82.

Abstract

Philadelphia chromosome-positive acute leukemias (Ph+ AL) show variable cytologic features, possibly reflecting heterogeneous stem cell involvement. Morphologic, immunologic and cytogenetic studies were performed in two cases of Ph+ acute lymphoblastic leukemia (ALL) in order to better delineate the clinicobiological features of this cytogenetic subset of AL. Sequential cytoimmunologic studies in patient 1 documented a lineage switch from pro-B ALL with a minor myeloid component at diagnosis to minimally differentiated acute myeloid leukemia (AML) at relapse. In this patient the major breakpoint cluster region (M-bcr) was in a rearranged configuration and all metaphase cells showed t(9;22)(q34;q11), both at diagnosis and at relapse. In patient 2 a diagnosis of Ph+ early T-cell ALL with minor myeloid component was made. In this patient the M-bcr was in a germline configuration. Cytogenetic studies documented the presence of the Ph chromosome in all metaphases from a lymphoid cell population obtained by fine-needle aspiration of an enlarged lymph node, and from a bone marrow cell fraction enriched in granulocyte precursors. This finding suggests multilineage involvement in this patient. Lineage switch and multilineage involvement in two patients suggest that a pluripotent stem cell may be affected rather frequently in patients with Ph+ AL. These findings show that biologically Ph+ AL may resemble chronic myelogenous leukemia blast crisis, since it may originate from an undifferentiated stem cell carrying the t(9;22) translocation.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Acute Disease
  • Adult
  • Aged
  • Aged, 80 and over
  • Antineoplastic Combined Chemotherapy Protocols / therapeutic use
  • Blast Crisis / diagnosis
  • Blast Crisis / pathology
  • Bone Marrow / pathology
  • Cell Lineage*
  • Clone Cells / pathology
  • Cytarabine / administration & dosage
  • Diagnosis, Differential
  • Disease Progression
  • Fatal Outcome
  • Humans
  • Idarubicin / administration & dosage
  • Karyotyping
  • Leukemia, Myelogenous, Chronic, BCR-ABL Positive / drug therapy
  • Leukemia, Myelogenous, Chronic, BCR-ABL Positive / genetics
  • Leukemia, Myelogenous, Chronic, BCR-ABL Positive / pathology*
  • Leukemia, Myeloid / diagnosis
  • Leukemia, Myeloid, Accelerated Phase / diagnosis
  • Leukemia, Myeloid, Accelerated Phase / pathology
  • Lymph Nodes / pathology
  • Male
  • Mitoxantrone / administration & dosage
  • Neoplastic Stem Cells / pathology
  • Pluripotent Stem Cells / pathology
  • Teniposide / administration & dosage
  • Vincristine / administration & dosage

Substances

  • Cytarabine
  • Vincristine
  • Teniposide
  • Mitoxantrone
  • Idarubicin