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Coincidence of Gaucher's disease due to a private mutation and Ph′ positive chronic myeloid leukemia
Author(s) -
Petrides Petro E.,
leCoutre Philipp,
MüllerHöcker Johann,
Magin Eberhard,
Harzer Klaus,
Demina Anna,
Beutler Ernest
Publication year - 1998
Publication title -
american journal of hematology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 2.456
H-Index - 105
eISSN - 1096-8652
pISSN - 0361-8609
DOI - 10.1002/(sici)1096-8652(199809)59:1<87::aid-ajh17>3.0.co;2-z
Subject(s) - myeloid leukemia , mutation , medicine , disease , gaucher's disease , leukemia , genetics , cancer research , gene , biology
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 β‐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 β‐glucocerebrosidase deficiency. Am. J. Hematol. 59:87–90, 1998. © 1998 Wiley‐Liss, Inc.