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Clonal Origin of the Philadelphia Chromosome and Chronic Myeloid Leukaemia: Evidence from a Sex Chromosome Mosaic
Author(s) -
Fitzgerald P. H.,
Pickering Alison F.,
Eiby Jenny R.
Publication year - 1971
Publication title -
british journal of haematology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.907
H-Index - 186
eISSN - 1365-2141
pISSN - 0007-1048
DOI - 10.1111/j.1365-2141.1971.tb02708.x
Subject(s) - biology , phytohaemagglutinin , chromosome , karyotype , myeloid , bone marrow , y chromosome , microbiology and biotechnology , x chromosome , genetics , immunology , lymphocyte , gene
S ummary . A male patient aged 69 yr with chronic myeloid leukaemia was a constitutional XY/XXY sex chromosomal mosaic as indicated by a positive sex chromatin in neutrophils and cytogenetic studies of lymphocytes cultured with phytohaemagglutinin. He was of normal phenotype and intelligence. In a bone‐marrow aspirate taken when the patient was in the acute phase of leukaemia the 46, XY cell line carried the Ph 1 chromosome, whereas the 47, XXY cell line did not. Two further cell lines were considered to have been derived by clonal evolution of the 46,XY,Ph 1 ‐positive line, although one of them possessed ambiguous features. The results support a clonal origin of the Ph 1 chromosome, and presumably also of chronic myeloid leukaemia. An interesting feature of the bone marrow was that the 46, XY, Ph 1 ‐positive cell line had apparently replaced the normal 46, XY cells but not the 47, XXY cells.