Evaluation of Cytogenetic Abnormalities in Patients with Acute Lymphoblastic Leukemia

Reddy, P. Vijay Anand; Shankar, Ramesh; Koshy, Teena; Radhakrishnan, Venkatraman; Ganesan, Prasanth; Kalaiyarasi, Jayachandran Perumal; Dhanushkodi, Manikandan; Mehra, Nikita; Krupashankar, S; Manasa, P; Nagare, Rohit P.; Swaminathan, RG; Kannan, Krishnarathinam; Sagar, Tenali Gnana; Ganesan, Trivadi S.

doi:10.1007/s12288-019-01123-8

Cited by 8 publications

(8 citation statements)

References 30 publications

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“…16 Patients with t(9;22)Ph + chromosome are considered as high risk cytogenetic group and are associated with disease relapse. 14,18 In our patients t(9;22) Ph + was seen in adult (6.25%) age group only out of which 1.25% did not respond well to treatment. Reddy P et al reported the similar findings in Ph + patients.…”

Section: Discussionmentioning

confidence: 54%

“…Reddy P et al reported 42% with hyper leukocytosis and the median age of paediatric group in his study was 8years whereas 26.5years in adult group. 14 To understand the genetic basis of ALL, cytogenetic has proved to be a very powerful tool over the years. Correlation of well-established cytogenetic abnormalities with age is strongly related to the disease outcome.…”

Section: Discussionmentioning

confidence: 99%

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Cytogenetic Profile of Acute Lymphoblastic Leukaemia Patients and Its Association With Induction Remission Status

Hina

Malik²,

Mehmood

et al. 2022

J Ayub Med Coll Abbottabad

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Background: To determine the cytogenetic abnormalities in patients of Acute Lymphoblastic Leukaemia as a predictor of response to induction chemotherapy.It was a descriptive cross sectional study. Methods: This study was conducted at the Armed Forces Institute of Pathology, Rawalpindi over a period of six months from June to November 2019. Bone marrow and peripheral blood samples of newly diagnosed 80 patients of all the age groups and either gender, who received one month treatment for ALL,were analyzed for cytogenetic study. Patients who were previously diagnosed with ALL, who presented with relapse and those who required induction treatment outside the trial hospital were excluded. UK ALL 2011 treatment protocol was adopted for patients up to 25years old and for patients above 25years old UK ALL 2014 treatment protocol as induction chemotherapy was adopted. Evaluation for remission was carried out at the termination of initial induction chemotherapy on day 29 of treatment. Results: A total of 80 patients were enrolled in the study, comprising 36(45%) females & 44(55%) males. The median age of paediatric patients was 5years (<19 years) who were 56/80(70%) in number whereas the median age of adults was 27 years (>19 years) who constituted 24/80 (30%) of the participants. Cytogenetic of 51(63.75%) patients revealed hyperdiploidy (chromosome number 51–66) whereas 29(36.25%) of the participants had miscellaneous mutations [(Hypodiploidy, t (9; 22), t (1; 19) and t (12; 21)]. On immunophenotyping 51/80 (63.7%) of the leukemias were of B cell origin and 29(36.25%) of T-cell origin.Conclusion: Patients with hyperdiploidy, t(12;21)ETV6/RUNX1 and t(1;19)TCF3/PBX1 had better prognosis and higher remission rate compared to those with the other mutations like t(9;22)Ph+ and hypodiploid which were associated with poor prognosis. Association of gender with remission was not statistically significant.

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Section: Discussionmentioning

confidence: 54%

Section: Discussionmentioning

confidence: 99%

Cytogenetic Profile of Acute Lymphoblastic Leukaemia Patients and Its Association With Induction Remission Status

Hina

Malik²,

Mehmood

et al. 2022

J Ayub Med Coll Abbottabad

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“…The cytogenetic data of ALL cases showed chromosomal translocations t(9;15)(p13;q11.2), t(1;19)(q25;p13.3), t(9;22)(q34;q11.2), and hyperdiploidy with other abnormalities in B-cell ALL while hypodiploidy was noted in T-cell ALL cases. Several studies have identified the same chromosomal translocations and the presence of hypo and hyperdiploid chromosomes in ALL cases [ 35 , 36 , 37 , 38 , 39 ].…”

Section: Discussionmentioning

confidence: 98%

Transcriptomic Analysis of Conserved Telomere Maintenance Component 1 (CTC1) and Its Association with Leukemia

Zia

Khan

Tehreem

et al. 2022

JCM

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Telomere length (TEL) regulation is important for genome stability and is governed by the coordinated role of shelterin proteins, telomerase (TERT), and CST (CTC1/OBFC1/TEN1) complex. Previous studies have shown the association of telomerase expression with the risk of acute lymphoblastic leukemia (ALL). However, no data are available for CST association with the ALL. The current pilot study was designed to evaluate the CST expression levels in ALL. In total, 350 subjects were recruited, including 250 ALL cases and 100 controls. The subjects were stratified by age and categorized into pediatrics (1–18 years) and adults (19–54 years). TEL and expression patterns of CTC1, OBFC1, and TERT genes were determined by qPCR. The univariable logistic regression analysis was performed to determine the association of gene expression with ALL, and the results were adjusted for age and sex in multivariable analyses. Pediatric and adult cases did not reflect any change in telomere lengths relative to controls. However, expression of CTC1, OBFC1, and TERT genes were induced among ALL cases. Multivariable logistic regression analyses showed association of CTC1 with ALL in pediatric [β estimate (standard error (SE)= −0.013 (0.007), p = 0.049, and adults [0.053 (0.023), p = 0.025]. The association of CTC1 remained significant when taken together with OBFC1 and TERT in a multivariable model. Furthermore, CTC1 showed significant association with B-cell ALL [−0.057(0.017), p = 0.002) and T-cell ALL [−0.050 (0.018), p = 0.008] in pediatric group while no such association was noted in adults. Together, our findings demonstrated that telomere modulating genes, particularly CTC1, are strongly associated with ALL. Therefore, CTC1 can potentially be used as a risk biomarker for the identification of ALL in both pediatrics and adults.

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“…A study by Reddy et al (2019), evaluated genetic abnormalities in 204 patients with ALL. The most common karyotypes observed include normal karyotype in 39.7% (n = 81), hyperdiploidy in 12.7% (n = 26), t (9; 22) in 4.4% (n = 9), and t (1; 19) in 3.9%.…”

Section: Discussionmentioning

confidence: 99%

Molecular Cytogenetic Study in Patients with Acute Lymphoblastic Leukemia (ALL) in Erbil Province

2021

ZJPAS

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Background: Acute lymphoblastic leukemia (ALL) is the most common malignancy in children and is also important in older adults. Chromosome number or structure abnormalities are seen in approximately 90% of children and 70% of adult patients with ALL. The aim of this study was to determine the prevalence of these chromosomal abnormalities in ALL patients using Fluorescence in situ Hybridization (FISH) technique and to define the frequency of chromosomal abnormalities of ALL patients in adults and children in Erbil Province. Methods: In this cross-sectional study, we evaluated karyotype results in blood samples, that collected from 55 patients with ALL (in both sexes) in Nanakali Hospital in Erbil Province. Thirty healthy individuals were selected as the control group. Patients ages ranged between 1 to 63 years old. The samples were centrifuged to extract nucleated cells. The cells were then subjected to hypotonic shock, fixed with methanol and acetic acid. A cell suspension was then prepared for FISH technique. After examining the samples with fluorescent microscope, the obtained data along with demographic and baseline characteristics of patients were entered in SPSS software, then statistically analyzed. Results: The prevalence of chromosomal abnormalities among ALL group was 52.7% (n = 29). Of these, 31¬% (9 people) had abnormalities in chromosome number and 69¬% (20 people) had abnormalities in chromosome structure. The most common chromosomal abnormality was translocation t (9; 22), which accounted for 31¬% of all abnormalities and its prevalence among ALL patients was 16.4¬%. Clonal trisomy and t (12; 21) also accounted for 13.8% and 10.3% of abnormalities, respectively. Clonal trisomy was the most common abnormality in chromosome number, accounting for 44.4% (n = 4) of abnormalities. Only one patient with single chromosome X (X0) pattern was observed in patients. There was no significant (P> 0.05) relationship between the incidence of chromosomal abnormalities with gender, family history, history of surgery and bacterial infection, occupation, place of residence, smoking and blood type as stated from the questionnaire form. ConclusionIn the current study, concluded that at least one chromosomal abnormality was found in more than half of all patients with ALL. Structural abnormalities were more common than chromosome number abnormalities. Awareness of the magnitude of the problem demands implementation of preventive, diagnostic and therapeutic strategies for leukemia's in the Kurdistan region as well as planning epidemiologic studies and research programs.

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Evaluation of Cytogenetic Abnormalities in Patients with Acute Lymphoblastic Leukemia

Cited by 8 publications

References 30 publications

Cytogenetic Profile of Acute Lymphoblastic Leukaemia Patients and Its Association With Induction Remission Status

Cytogenetic Profile of Acute Lymphoblastic Leukaemia Patients and Its Association With Induction Remission Status

Transcriptomic Analysis of Conserved Telomere Maintenance Component 1 (CTC1) and Its Association with Leukemia

Molecular Cytogenetic Study in Patients with Acute Lymphoblastic Leukemia (ALL) in Erbil Province

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