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CC BY-NC-ND 4.0 · South Asian J Cancer 2022; 11(04): 353-360
DOI: 10.1055/s-0042-1754337
Original Article
Leukemia, Lymphoma, Myeloma

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

Ajeitha Loganathan 
1   Department of Pediatric Hematology and Oncology, Kanchi Kamakoti Childs Trust Hospital, Chennai, Tamil Nadu, India
,
Rishab Bharadwaj
1   Department of Pediatric Hematology and Oncology, Kanchi Kamakoti Childs Trust Hospital, Chennai, Tamil Nadu, India
,
Arathi Srinivasan
2   Department of Pediatric Oncology, Kanchi Kamakoti Childs Trust Hospital, Chennai, Tamil Nadu, India
,
Julius Xavier Scott
2   Department of Pediatric Oncology, Kanchi Kamakoti Childs Trust Hospital, Chennai, Tamil Nadu, India
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Abstract

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Arathi Srinivasan

Aims The aim was to study cytogenetics and molecular genetic profile in pediatric B-acute lymphoblastic leukemia (ALL) and correlate it with induction outcomes.

Subjects and Methods A retrospective study of cytogenetics and molecular genetics of 98 children with B-cell ALL from January 2013 to May 2018 was done. Cytogenetics and molecular genetics were done in the bone marrow using multiplex reverse transcription polymerase chain reaction and G-banded karyotyping, respectively. Minimal residual disease (MRD) assessment was done at the end of induction by flowcytometry.

Results Of the 98 children, 83 (84.6%) had evaluable cytogenetics, with 11 (13.25%) being abnormal karyotypes. Of the 11 abnormal karyotypes, seven children (8.4%) had hyperdiploidy, one had hypodiploidy, and three had miscellaneous findings. In molecular genetics, TEL–AML1 (ETV6/RUNX1)[t(12;21)] was the most common fusion gene abnormality (12.2% [12/98]), followed by E2A–PBX1 [t(1;19)] (5%), BCR/ABL1 [t(9;22)] (3%), and MLL–AF4 [t(4;11)] (1%). All the 98 children attained morphologic remission at the end of induction. All children with hyperdiploidy (7/7) attained remission and MRD negativity, but one expired during maintenance chemotherapy of disseminated tuberculosis. The child with hypodiploidy was MRD-positive. Three (25%) children with t (12;21) were MRD-positive. All children with Ph + ALL, t(1:19), and t(4;11) were MRD-negative. Fifty-two children had no detected abnormalities, six of whom had MRD positivity (11.5%).

Conclusion Cytogenetic and molecular genetic subgrouping prognosticates ALL outcomes. Although 25% of TEL–AML + children had MRD positivity, larger studies are required to validate the same. End-of-induction MRD outcomes did not correlate with chromosomal aberrations.

Keywords

acute lymphoblastic leukemia - cytogenetics - induction - minimal residual disease - pediatric

Financial Support and Sponsorship

Nil.




Publication History

Article published online:
22 August 2022

© 2022. MedIntel Services Pvt Ltd. This is an open access article published by Thieme under the terms of the Creative Commons Attribution-NonDerivative-NonCommercial License, permitting copying and reproduction so long as the original work is given appropriate credit. Contents may not be used for commercial purposes, or adapted, remixed, transformed or built upon. (https://creativecommons.org/licenses/by-nc-nd/4.0/)

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