A 29-year-old woman complains of tiredness, especially during activity. On examination the patient appears pale. Auer rods and schistocytes can he seen on peripheral blood smear. The patient is referred for a bone marrow biopsy and the extracted cells are sent for cytogenetic analysis. The most likely results are:
A. t(8:2l)B. t (15:17)
C. t(9:22)
D. t(14;18)
E. t (8;14)
The answer is. B. t (15:17)
This patient is suffering from an acute promyelocytic
leukaemia, a subtype (M3) of AML. It is due to t(15;17) translocation which causes the proliferation of
promyelocytes.
Complications include: diffuse intravascular
coagulation, potentially leading to massive haemorrhage.
The t(8;21) abnonnality part of the acute myelogenous
leukaemia disorders (M2 variant) and is associated with variable WCC, anaemia,
neutropenia and thrombocytopenia.
The t(9;22) translocation occurs in CML and in 9 per
cent of patients is associated with the Philadelphia chromosome. Patients have
elevated WCC, basophils, neutrophils and myelocytes with a hypercellular bone
marrow.
A t(14;18) karyotype occurs in follicular lymphoma, a
tumour of follicles consisting of centrocytes.
A t(8;14) abnormality occurs in Burkitt’s lymphoma
secondary to a latent Epstein—Barr (EBV) infection and usually affects the
maxilla or mandible.
