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Acute megakaryoblastic leukaemia associated with intrinsic platelet dysfunction and constitutional ring 21 chromosome in a young boy
Author(s) -
Pui ChingHon,
Williams Dorothy L.,
Scarborough Victoria,
Jackson Carl W.,
Price Robert,
Murphy Sharon
Publication year - 1982
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.1365-2141.1982.tb01909.x
Subject(s) - pancytopenia , platelet , bone marrow , medicine , pathology , immunology , cancer research
A 3‐year‐old boy with pancytopenia and a paucity of circulating blast cells was found to have acute megakaryoblastic leukaemia. Histopathologic investigation of the bone marrow biopsy disclosed replacement by megakaryoblasts and mild‐to‐moderate reticulin fibrosis. the megakaryocytic origin of these cells was confirmed by their staining properties and by cross‐reactivity with rabbit anti‐rat platelet serum. Treatment with adriamycin and cytosine arabinoside induced a complete remission of this otherwise rapidly fatal disease. Before chemotherapy, the patient's platelets showed decreased aggregation in response to thrombin and adenosine diphosphate, as well as a defective thrombin‐induced serotonin release reaction. Neither functional defect resolved after remission induction, indicating that the platelets were intrinsically abnormal. Most striking was the finding of a constitutional chromosomal defect, a ring No. 21 chromosome, in addition to an abnormal malignant stem line. This appears to be the first reported instance of a constitutional r(21) chromosome associated with acute leukaemia.