The pheno-genotypic characteristics of infantile acute leukemia in a regional cancer center from South India

Vijayanarasimha, Divya; Madhumathi, D S; Prasanna, K.; Naik, Jayadeva; Appaji, L.; Lakshmidevi, V.

doi:10.4103/joah.joah_27_17

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“…These results are comparable to the to the results of De Braekeleer et al, study, which showed that t(12;21) (p13;q21) was the most frequent structural rearrangements in children with B ALL even though t(9;22) (q34;q11) was the most frequent structural rearrangements among adults with B-ALL. 14 In contrast to this study, the low frequency of translocation t(12;21)TEL/AML1 among B ALL patients (Table 3) was observed by Arash et al, and Chebihi et al 12,15 In this study MLL(KMT2A) Gene Rearrangement was the most commonly found molecular aberration in infantile B ALL which is comparable to the study done by Vijayanarasimha et al 5 Few limitations of this study are, Karyotyping and translocation t(1;19) were not performed. Karyotyping might have helped to detect few other abnormalities like Hyper diploidy and Hypodiploidy which have prognostic value.…”

Section: Discussionsupporting

confidence: 72%

Cytogenetic and molecular aberrations in childhood B lineage acute lymphoblastic leukaemia

Senthilprabhu¹,

Aruna²,

Ravichandran³

2020

Int J Contemp Pediatr

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Background: Acute Lymphoblastic Leukemia (ALL) is a common hematological malignancy in children and is characterized by genetic changes such as mutations and chromosomal translocations. These cytogenetic and molecular abnormalities have got diagnostic and prognostic significance. Identification of these abnormalities helps in risk categorization and appropriate therapy. Aim of the study was to assess the cytogenetic/molecular abnormalities associated with B Lineage ALL in children.Methods: It was a hospital based retrospective observational study of 79 children diagnosed with B Lineage ALL by Bone marrow aspirate morphology and flow cytometry. Bone marrow samples or Peripheral blood were sent for cytogenetic/molecular analysis by Fluorescent in situ Hybridization technique. Descriptive data analysis was done using SPSS software.Results: Out of 199 cases 163(82%) were B Lineage ALL. 79(48%) undergone molecular analysis. Out of 79 cases of B lineage ALL, Translocation t(9;22) BCR-ABL1 was positive in 2(2.5%) cases , Translocation t(12;21) TEL/AML1 was positive 9(11%) cases and MLL (KMT2A) Gene Rearrangements was seen in 6(7.6%) children. Out of 79 cases of B lineage ALL, 6(7.6%) were Infantile ALL (Males 1(17%); Females 5(83%)). 4(67%) cases were positive for MLL (KMT2A) Gene Rearrangement, all of them were female children. Over all 17(22%) cases (Males 4(24%); Females 13(76%)) were positive for molecular abnormalities.Conclusions: Many children with ALL have got Cytogenetic and Molecular abnormalities. The highest percentage of cytogenetic and molecular genetic abnormalities was related to t(12;21)TEL/AML1 in B Lineage ALL children, if present confer favourable prognosis. MLL (KMT2A) Gene Rearrangement was the common molecular abnormality in Infantile B ALL, presence of it leads to high risk categorization and confer poor prognosis. The evaluation of cytogenetic and molecular genetic abnormalities in children is essential in estimating the prognosis in B Lineage ALL children, which will be a great contribution to offer appropriate therapeutic approaches.

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