Cytogenetic analysis of 298 newly diagnosed cases of acute lymphoblastic leukaemia in Tunisia

Gmidène, Abir; Sennana, Hlima; Elghezal, Hatem; Ziraoui, Sihem; Youssef, Yosra Ben; Elloumi, Moez; Issaoui, Lamia; Harrabi, Imed; Raynaud, Sophie; Sarkhosh, Ali

doi:10.1002/hon.840

Cited by 20 publications

(10 citation statements)

References 37 publications

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“…Only, nine patients had three or more copies of RUNX1 gene without polysomy of chromosome 21 (21.4 %). This incidence was higher than that reported by Gmidene et al (10.5 %) [29]. Most of our patients achieved complete remission periods vary between 5 and 45 months except of four cases.…”

Section: Discussioncontrasting

confidence: 69%

Evaluation of ETV6/RUNX1 Fusion and Additional Abnormalities Involving ETV6 and/or RUNX1 Genes Using FISH Technique in Patients with Childhood Acute Lymphoblastic Leukemia

Aydın

Çetin

Manguoğlu

et al. 2015

Indian J Hematol Blood Transfus

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Childhood acute lymphoblastic leukemia (ALL) is the most common type of childhood leukemia. Specifically, ALL is a malignant disorder of the lymphoid progenitor cells, with a peak incidence among children aged 2-5 years. The t(12;21)(p13;q22) translocation occurs in 25 % of childhood B cell precursor ALL. In this study, bone marrow samples were obtained from 165 patients with childhood ALL. We analyzed the t(12;21) translocation and other related abnormalities using the fluorescent in situ hybridization (FISH) technique with the ETV6(TEL)/RUNX1(AML1) ES dual color translocation probe. Conventional cytogenetic analyses were also performed. ETV6 and RUNX1 related chromosomal abnormalities were found in 42 (25.5 %) of the 165 patients with childhood ALL. Among these 42 patients, structural changes were detected in 33 (78.6 %) and numerical abnormalities in 9 (21.4 %). The frequency of FISH abnormalities in pediatric ALL cases were as follows: 8.5 % for t(12;21)(p13;q22) ETV6/RUNX1 fusion, 6.0 % for RUNX1 amplification, 3.0 % for tetrasomy/trisomy 21, 1.8 % for ETV6 deletion, 1.21 % for ETV6 deletion with RUNX1 amplification, 1.21 % for ETV6 amplification with RUNX1 amplification, 0.6 % for polyploidy, 0.6 % for RUNX1 deletion, and 0.6 % for diminished ETV6 signal. The most common structural abnormality was the t(12;21) translocation, followed by RUNX1 amplification and ETV6 deletion, while the most commonly observed numerical abnormality was trisomy 21.

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Section: Discussioncontrasting

confidence: 69%

Evaluation of ETV6/RUNX1 Fusion and Additional Abnormalities Involving ETV6 and/or RUNX1 Genes Using FISH Technique in Patients with Childhood Acute Lymphoblastic Leukemia

Aydın

Çetin

Manguoğlu

et al. 2015

Indian J Hematol Blood Transfus

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“…Especially, B-lineage ALL is more frequent, accounting for 85% of childhood ALL and 75% of adult ALL (WHO, 2008). However, the incidence of chromosomal abnormalities was higher than previously reported studies (Foristier et al, 1997;Mehdipour et al, 2003;Gimidene et al 2008), similar results (Perez-Vera et al, 2001;Al-Bahar et al, 2010) and lower than some studies (Chang et al, 2006;Kwon et al, 2009;Braekeleer et al, 2010). In our study, the bone marrow cultures for nine patients either yielded no metaphases or the quality of the chromosomes was too poor with clumped metaphases, which is commonly known in most of the ALL cases (Petkovic et al, 1996) and the percentage of diploid karyotype (25.8%) presently tended to decrease compared to the earlier years, likely attributable to technical progress such as improvement of culture conditions, cell synchronization, and the introduction of integrated FISH screening method may have led to a higher incidence rate of chromosomal abnormalities in our study similar to previous studies (Hashem, 2012).…”

Section: Discussioncontrasting

confidence: 57%

Importance of FISH combined with Morphology, Immunophenotype and Cytogenetic Analysis of Childhood/Adult Acute Lymphoblastic Leukemia in Omani Patients

Goud¹,

Salmani²,

Harasi³

et al. 2015

Asian Pacific Journal of Cancer Prevention

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Genetic changes associated with acute lymphoblastic leukemia (ALL) provide very important diagnostic and prognostic information with a direct impact on patient management. Detection of chromosome abnormalities by conventional cytogenetics combined with fluorescence in situ hybridization (FISH) play a very significant role in assessing risk stratification. Identification of specific chromosome abnormalities has led to the recognition of genetic subgroups based on reciprocal translocations, deletions and modal number in B or T-cell ALL. In the last twelve years 102 newly diagnosed childhood/adult ALL bone marrow samples were analysed for chromosomal abnormalities with conventional G-banding, and FISH (selected cases) using specific probes in our hospital. G-banded karyotype analysis found clonal numerical and/or structural chromosomal aberrations in 74.2% of cases. Patients with pseudodiploidy represented the most frequent group (38.7%) followed by high hyperdiploidy group (12.9%), low hyperdiploidy group (9.7%), hypodiploidy (<46) group (9.7%) and high hypertriploidy group (3.2%). The highest observed numerical chromosomal alteration was high hyperdiploidy (12.9%) with abnormal karyotypes while abnormal 12p (7.5%) was the highest observed structural abnormality followed by t(12;21)(p13.3;q22) resulting in ETV6/RUNX1 fusion (5.4%) and t(9;22)(q34.1;q11.2) resulting in BCR/ABL1 fusion (4.3%). Interestingly, we identified 16 cases with rare and complex structural aberrations. Application of the FISH technique produced major improvements in the sensitivity and accuracy of cytogenetic analysis with ALL patients. In conclusion it confirmed heterogeneity of ALL by identifying various recurrent chromosomal aberrations along with non-specific rearrangements and their association with specific immunophenotypes. This study pool is representative of paediatric/adult ALL patients in Oman.

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“…These new technologies have increased our understanding of certain nonrandom chromosomal alterations related to morphologic subtypes of acute leukemia [3]. In addition, they provide diagnostic and prognostic information with a direct impact on patient management [4].…”

Section: Introductionmentioning

confidence: 99%

High-Resolution Analysis of Chromosomal Alterations in Adult Acute Lymphoblastic Leukemia

Yuen¹

2014

J Hematol

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Background: Chromosomal alterations occur frequently in acute lymphoblastic leukemia (ALL), affecting either the chromosome number or structural changes. These alterations can lead to inactivation of tumor suppressor genes and/or activation of oncogenes. The objective of this study was to identify recurrent and/or novel chromosomal alterations in adult ALL using single nucleotide polymorphism (SNP) array analysis.

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Cytogenetic analysis of 298 newly diagnosed cases of acute lymphoblastic leukaemia in Tunisia

Cited by 20 publications

References 37 publications

Evaluation of ETV6/RUNX1 Fusion and Additional Abnormalities Involving ETV6 and/or RUNX1 Genes Using FISH Technique in Patients with Childhood Acute Lymphoblastic Leukemia

Evaluation of ETV6/RUNX1 Fusion and Additional Abnormalities Involving ETV6 and/or RUNX1 Genes Using FISH Technique in Patients with Childhood Acute Lymphoblastic Leukemia

Importance of FISH combined with Morphology, Immunophenotype and Cytogenetic Analysis of Childhood/Adult Acute Lymphoblastic Leukemia in Omani Patients

High-Resolution Analysis of Chromosomal Alterations in Adult Acute Lymphoblastic Leukemia

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