Molecular monitoring of cerebrospinal fluid can predict clinical relapse in acute lymphoblastic leukemia with eosinophilia.

Publisher: College of American Pathologists Country of Publication: United States NLM ID: 7607091 Publication Model: Print Cited Medium: Internet ISSN: 1543-2165 (Electronic) Linking ISSN: 00039985 NLM ISO Abbreviation: Arch Pathol Lab Med Subsets: MEDLINE

Publication: Northfield, Ill. : College of American Pathologists
Original Publication: Chicago, American Medical Assn.

Cerebrospinal Fluid/*immunology ; Eosinophilia/*cerebrospinal fluid ; Gene Expression Profiling/*methods ; Neoplasm Recurrence, Local/*diagnosis ; Precursor Cell Lymphoblastic Leukemia-Lymphoma/*cerebrospinal fluid; Child ; Eosinophilia/diagnosis ; Eosinophilia/genetics ; Fatal Outcome ; Genes, Immunoglobulin/genetics ; Humans ; Leukemia, B-Cell/cerebrospinal fluid ; Leukemia, B-Cell/diagnosis ; Leukemia, B-Cell/genetics ; Male ; Neoplasm Recurrence, Local/cerebrospinal fluid ; Neoplasm Recurrence, Local/genetics ; Neoplasm, Residual/cerebrospinal fluid ; Neoplasm, Residual/diagnosis ; Neoplasm, Residual/genetics ; Precursor Cell Lymphoblastic Leukemia-Lymphoma/diagnosis ; Precursor Cell Lymphoblastic Leukemia-Lymphoma/genetics ; Predictive Value of Tests

In a patient with precursor B-cell acute lymphoblastic leukemia (ALL) associated with eosinophilia that completely responded to induction chemotherapy, we assayed serial remission cerebrospinal fluid and bone marrow specimens for minimal residual disease using a quantitative polymerase chain reaction assay to assess for clone-specific immunoglobulin heavy-chain gene cluster (IGH) gene rearrangement. Cerebrospinal fluid eosinophilia and minimal residual disease were detected on day 406, preceding the morphologic diagnosis of central nervous system relapse on day 578. By day 841, the bone marrow had 35% blasts. Despite aggressive therapy, including unrelated umbilical cord blood transplantation, the patient developed testicular and bone marrow relapses and died of disease. We conclude that increasing levels of minimal residual disease in cerebrospinal fluid can predict recurrence of ALL prior to clinical and morphologic relapse. Furthermore, we demonstrate a novel translocation in this tumor, the t(5;9)(q31;p24), that possibly led to fusion of the interleukin-3 (IL3) (5q31) and JAK2 (9p24) genes and may explain the concomitant appearance of eosinophilia and ALL.

Date Created: 20030424 Date Completed: 20030508 Latest Revision: 20210527

20221213

10.5858/2003-127-0601-MMOCFC

12708906