BCR rearrangement in apparent essential thrombocythaemia.
The presence of the Philadelphia chromosome is a major determinant of the prognosis of patients with myeloproliferative disorders. We describe a case of apparent essential thrombocythaemia in whom cytogenetic analysis was normal. However, the presence of basophilia, the absence of abnormal megakaryocytes in a trephine biopsy and the female sex of the patient prompted Southern analysis of peripheral granulocyte DNA. This revealed a BCR rearrangement and the patient has therefore undergone allogeneic bone marrow transplantation. This case emphasizes the importance of both cytogenetic and molecular analysis of patients with apparent essential thrombocythaemia.
Richards
E M
EM
Department of Haematology, Addenbrooke's Hospital, Cambridge.
Bloxham
D M
DM
Nacheva
E
E
Marcus
R E
RE
Green
A R
AR
D015139:Blotting, Southern; D005260:Female; D015321:Gene Rearrangement; D006801:Humans; D008875:Middle Aged; D015513:Oncogene Proteins / Q000235:genetics*; D009857:Oncogenes; D010677:Philadelphia Chromosome; D011505:Protein-Tyrosine Kinases; D011518:Proto-Oncogene Proteins; D051562:Proto-Oncogene Proteins c-bcr; D013920:Thrombocythemia, Essential / Q000235:genetics*
D015513:Oncogene Proteins; D011518:Proto-Oncogene Proteins; D011505:Protein-Tyrosine Kinases; C496613:BCR protein, human; D051562:Proto-Oncogene Proteins c-bcr