METHODS: Eighty-two children with acute leukaemia were examined for ocular lesions within two days of diagnosis before starting chemotherapy. The detailed ocular examination of both eyes was carried out by the ophthalmologist irrespective of the presence or absence of eye symptoms in all cases.
RESULTS: Only 3 out of 82 children presented with eye symptoms (3.6%). However, ocular changes were found in 14 children (17%); ten with lymphoblastic and four with myeloid leukaemia. The ocular lesions observed were proptosis, intraretinal haemorrhages, white centered haemorrhages, cotton wool spots, macular haemorrhage, subhyaloid haemorrhage, vitreous haemorrhage, papilloedema, cortical blindness, sixth nerve palsy, and exudative retinal detachment with choroidal infiltration.
CONCLUSION: In view of the high prevalence of asymptomatic ocular lesions in childhood acute leukaemia, routine ophthalmic examination should be included as a part of evaluation at the time of diagnosis.
METHODOLOGY: Cytokines and transcription factors in haematopoiesis and leukaemic mechanisms are described. Genetic features and clinical implications due to the encoded chimeric neoproteins causing malignant haematopoietic disorders are reviewed.
RESULTS AND DISCUSSION: Multiple translocation partner genes are well known for leukaemia such as MYC, MLL, RARA, ALK, and RUNX1. With the advent of more sophisticated diagnostic tools and bioinformatics algorithms, an exponential growth in fusion genes discoveries is likely to increase.
CONCLUSION: Demonstration of fusion genes and their specific translocation breakpoints in malignant haematological disorders are crucial for understanding the molecular pathogenesis and clinical phenotype of cancer, determining prognostic indexes and therapeutic responses, and monitoring residual disease and relapse status.