Cytogenetic Profile of De Novo B lineage Acute Lymphoblastic Leukemia: Determination of Frequency, Distribution Pattern and Identification of Rare and Novel Chromosomal Aberrations in Indian Patients

Abstract

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.

Cytogenetics and Molecular Genetics in Pediatric Acute Lymphoblastic Leukemia (ALL) and Its Correlation with Induction Outcomes

“…8 25 26 However, a few Indian studies have reported lower 27 28 29 30 and higher incidences. 9 10 Our data on E2A–PBX1 fusion incidence are also comparable to the majority of Western and Chinese data. 12 13 16 The mean total leukocyte count in this subgroup was significantly high compared with the overall mean.…”

“…Hyperdiploidy was the most common numerical chromosomal abnormality (8.4%), which was comparable with studies in India and China. 9 10 11 However, the incidence of hyperdiploidy in Iran, the US, and Europe is significantly higher, ranging from 25.4% in the US to as high as 39% in France. 12 13 14 15 16 The reported incidence of hyperdiploidy in Central and South America is varied ( Table 3 ).…”

Contributions of ARID5B, IKZF1, PIP4K2A, and GATA3 Gene Polymorphisms to Childhood Acute Lymphoblastic Leukemia in a Chinese Population

“…Therefore, after consulting many studies, we selected ARID5B rs10821936,6,15–17 GATA3 rs3824662,8,18–20 IKZF1 rs4132601,1,21–24 and PIP4K2A rs708831825–27 to determine whether these associations are generally applicable in Chinese children. To the best of our knowledge, no study has examined the effects of these SNPs on ALL in China.…”