Genes related to key cellular pathways are frequently altered in B cell ALL and are associated with poor survival especially in high-risk (HR) subgroups. We examined gene copy number abnormalities (CNA) in 101 Indian HR B cell ALL patients and their correlation with clinicopathological features by multiplex ligation-dependent probe amplification. Overall, CNA were detected in 59 (59%) cases, with 26, 10 and 23% of cases harboring 1, 2 or +3 CNA. CNA were more prevalent in BCR-ABL1 (60%), pediatric (64%) and high WCC (WBC count) (63%) patients. Frequent genes deletions included CDNK2A/B (26%), IKZF1 (25%), PAX5 (14%), JAK2 (7%), BTG1 (6%), RB1 (5%), EBF1 (4%), ETV6 (4%), while PAR1 region genes were predominantly duplicated (20%). EBF1 deletions selectively associated with adults, IKZF1 deletions occurred frequently in high WCC and BCR-ABL1 cases, while PAR1 region gains significantly associated with MLL-AF4 cases. IKZF1 haploinsufficiency group was predominant, especially in adults (65%), high WCC (60%) patients and BCR-ABL1-negative (78%) patients. Most cases harbored multiple concurrent CNA, with IKZF1 concomitantly occurring with CDNK2A/B, PAX5 and BTG1, while JAK2 occurred with CDNK2A/B and PAX5. Mutually exclusive CNA included ETV6 and IKZF1/RB1, and EBF1 and JAK2. Our results corroborate with global reports, aggregating molecular markers in Indian HR B-ALL cases. Integration of CNA data from rapid methods like MLPA, onto background of existing gold-standard methods detecting significant chromosomal abnormalities, provides a comprehensive genetic profile in B-ALL.

Background: Chromosomal aberrations identified in acute lymphoblastic leukemia (ALL) have an important role in disease diagnosis, prognosis and management. Information on karyotype and associated clinical parameters are essential to physicians for planning cancer control interventions in different geographical regions. Materials and Methods: In this study, we present the overall frequency and distribution patterns of chromosomal aberrations in both children and adult de novo B lineage ALL Indian patients using conventional cytogenetics, interphase FISH and multiplex RT-PCR. Results: Among the 215 subjects, cytogenetic results were achieved in 172 (80%) patients; normal karyotype represented 37.2% and abnormal 62.8% with a distribution as follows: 15.3% hypodiploidy; 10.3% hyperdiploidy; 15.8% t(9;22); 9.8% t(1;19); 3.7% t(12;21); 2.8% t(4;11); 2.8% complex karyotypes. Apart from these, we observed several novel, rare and common chromosomal rearrangements. Also, FISH studies using LSI extra-signal dual-color probes revealed additional structural or numerical changes. Conclusions: These results demonstrate cytogenetic heterogeneity of ALL and confirm that the incidence of chromosomal abnormalities varies considerably. To the best of our knowledge, this is one of the largest reported series of cytogenetic investigations in Indian B-lineage ALL cases. In addition, ongoing cytogenetic studies are warranted in larger groups of B-lineage ALL cases to identify newly acquired chromosomal abnormalities that may contribute to disease diagnosis and management.

Acute lymphoblastic leukemia (ALL) is a rapid form of leukemia characterized by clonal proliferation and accumulation of immature hematopoietic stem cells of the lymphoid lineage in the bone marrow as well as peripheral blood. Chromosomal aberrations identified in childhood ALL have an important role in disease diagnosis, prognosis and management. We present the results of hematologic, immunophenotypic, cytogenetic, FISH and Multiplex RT-PCR analysis of a 6-year-old boy diagnosed with B-cell precursor Acute Lymphoblastic Leukemia (BCP-ALL). In this study, we identified a novel chromosomal translocation t(10;15) (q22;q22) by cytogenetic and FISH analysis. To the best of our knowledge, this is the first report of this novel chromosomal translocation in this subset of ALL and has not yet been reported elsewhere. This rearrangement may include certain cancer associated tumor suppressor gene(s) or genes involved in apoptosis and transcription regulation, which on loss of normal function may lead to leukaemogenesis.

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We read with great interest this paper by Tamirat T, which highlighted the astoundingly low engagement of healthcare workers in smoking cessation interventions, within the Hadiya Zone. 1 The World Health Organization (WHO) has declared tobacco use "the epidemic that spreads fastest and lasts longest", underlining the importance of early and effective cessation intervention. However, whilst this relies heavily upon good practice by healthcare workers, this paper has shown that there is significant capacity for improvement, with only 3% of staff providing satisfactory smoking cessation intervention.This paper sheds light on specific groups of healthcare staff with lower rates of good practice with regard to smoking cessation. We found particularly striking the difference in male and female participants, with men being 2.25 times more likely to engage in smoking cessation interventions. The author postulates that this is due to a difference in training, guidelines and obligations between the genders. 1 However, it may be argued this is more correlated to job distribution across genders, rather than gender itself. 80.5% of doctors in south Ethiopia are male and only 19.5% are female. 2 In contrast, 67% of nurses are women and 33% male. 3 A study by Hasan et al, showed nurses had less knowledge and lower self-efficacy with respect to smoking cessation than doctors, which may serve as a barrier preventing them from discussing it with patients. The same study demonstrated that nurses showed the most improvement after receiving adequate training. 4 Therefore, the disparity between male and female healthcare workers may have greater correspondence to the quality of training received by a particular role, rather than linked directly to gender itself. These different roles could have been accounted for in the study design, allowing for better analysis of the results. Especially pertinent as over 50% of the participants were nurses and 56.4% were female.The article outlined the smoking status of healthcare workers as a factor contributing to their engagement and included this as a polar question within the questionnaire. However, this was not further explored and discussed in regard to its effect on their cessation practice. Gaining specific insights like this in the form of a