Document Detail

Coincidence of Gaucher's disease due to a private mutation and Ph' positive chronic myeloid leukemia.
MedLine Citation:
PMID:  9723584     Owner:  NLM     Status:  MEDLINE    
We report the case of a 46-year-old female with coexisting type I Gaucher's disease and chronic myeloid leukemia (CML). The diagnosis of Gaucher's disease was made in early childhood by bone marrow biopsy and was recently confirmed by biochemical demonstration of reduced leukocyte beta-glucocerebrosidase activity and the presence of Gaucher cells in a bone marrow aspirate. We analyzed the patient's genomic DNA for the underlying glucocerebrosidase mutations and have found homozygosity for a C-->T transition in cDNA nucleotide 593 (159 Pro-->Leu), presently an undescribed mutation. After initiation of replacement therapy with alglucerase we observed a significant increase of the platelet count in our patient. The diagnosis of CML was based on standard hematological parameters and the detection of the Philadelphia chromosome (Ph). With intermittent treatment with busulfan the patient has remained in chronic phase for nine years. The patient suffered from hepatosplenomegaly and thrombocytopenia, both of which can be caused by Gaucher's disease and CML. The aggravation of skeletal manifestations of Gaucher's disease, which occurred at the time of diagnosis of CML, could be due to increased production of leukocyte-derived glucocerebrosides that were not appropriately degraded because of the genetic beta-glucocerebrosidase deficiency.
P E Petrides; P leCoutre; J Müller-Höcker; E Magin; K Harzer; A Demina; E Beutler
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Publication Detail:
Type:  Case Reports; Journal Article    
Journal Detail:
Title:  American journal of hematology     Volume:  59     ISSN:  0361-8609     ISO Abbreviation:  Am. J. Hematol.     Publication Date:  1998 Sep 
Date Detail:
Created Date:  1998-09-22     Completed Date:  1998-09-22     Revised Date:  2007-11-15    
Medline Journal Info:
Nlm Unique ID:  7610369     Medline TA:  Am J Hematol     Country:  UNITED STATES    
Other Details:
Languages:  eng     Pagination:  87-90     Citation Subset:  IM    
Department of Medicine, Charité Hospital Humboldt University, Berlin, Germany.
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MeSH Terms
Gaucher Disease / complications*,  genetics*
Glucosylceramidase / genetics
Leukemia, Myelogenous, Chronic, BCR-ABL Positive / complications*
Middle Aged
Mutation / genetics*
Reg. No./Substance:

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