Evidence map›Paper›PMID 42192895›Full record

ArticleCancers2026

Integrated Genomic Profiling of Newly Diagnosed and Relapsed Acute Myeloid Leukemia Identifies Driver Genes, Mutational Signatures, and Therapeutic Targets.

Harsh Goel, Avanish Kumar Pandey, Anshul Arya, Rahul Kumar, Rakesh Kumar, Harshita Makkar, Ravi Kumar Majhi, Sujata Bhattacharya, Jay Singh, Mohit Kumar Divakar and 15 more

Abstract read
In one paragraph

Article in Cancers, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 3 papers.

0numbers the graph read from it
0cells of the map it votes in
3citing papers in PubMed
–field-weighted citation impact
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

3 citing papers in PubMed.

  1. Article
  2. Article
  3. Article
4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

25 authors.

Harsh GoelLaboratory Oncology Unit, Dr. B.R.A. Institute Rotary Cancer Hospital, All India Institute of Medical Sciences, New Delhi 110029, India.ORCID 0000-0003-3904-7343
Avanish Kumar PandeyLaboratory Oncology Unit, Dr. B.R.A. Institute Rotary Cancer Hospital, All India Institute of Medical Sciences, New Delhi 110029, India.ORCID 0000-0003-3014-4913
Anshul AryaLaboratory Oncology Unit, Dr. B.R.A. Institute Rotary Cancer Hospital, All India Institute of Medical Sciences, New Delhi 110029, India.
Rahul KumarLaboratory Oncology Unit, Dr. B.R.A. Institute Rotary Cancer Hospital, All India Institute of Medical Sciences, New Delhi 110029, India.ORCID 0000-0001-6585-6780
Rakesh KumarLaboratory Oncology Unit, Dr. B.R.A. Institute Rotary Cancer Hospital, All India Institute of Medical Sciences, New Delhi 110029, India.
Harshita MakkarDivision of Pediatric Oncology, Department of Pediatrics, All India Institute of Medical Sciences, New Delhi 110029, India.ORCID 0000-0003-4532-5223
Ravi Kumar MajhiDivision of Pediatric Oncology, Department of Pediatrics, All India Institute of Medical Sciences, New Delhi 110029, India.
Sujata BhattacharyaDivision of Pediatric Oncology, Department of Pediatrics, All India Institute of Medical Sciences, New Delhi 110029, India.
Jay SinghLaboratory Oncology Unit, Dr. B.R.A. Institute Rotary Cancer Hospital, All India Institute of Medical Sciences, New Delhi 110029, India.
Mohit Kumar DivakarDepartment of Medical Oncology, Dr. B.R.A. Institute Rotary Cancer Hospital, All India Institute of Medical Sciences, New Delhi 110029, India.ORCID 0000-0002-6731-9249
Payal VasudevaDepartment of Medical Oncology, Dr. B.R.A. Institute Rotary Cancer Hospital, All India Institute of Medical Sciences, New Delhi 110029, India.
Saran KumarKusuma School of Biological Sciences, Indian Institute of Technology Delhi, New Delhi 110016, India.ORCID 0000-0002-5052-0499
Anita ChopraLaboratory Oncology Unit, Dr. B.R.A. Institute Rotary Cancer Hospital, All India Institute of Medical Sciences, New Delhi 110029, India.ORCID 0000-0002-0238-8702
Amar RanjanLaboratory Oncology Unit, Dr. B.R.A. Institute Rotary Cancer Hospital, All India Institute of Medical Sciences, New Delhi 110029, India.ORCID 0000-0003-1123-338X
Jagdish Prasad MeenaDivision of Pediatric Oncology, Department of Pediatrics, All India Institute of Medical Sciences, New Delhi 110029, India.
Aditya Kumar GuptaDivision of Pediatric Oncology, Department of Pediatrics, All India Institute of Medical Sciences, New Delhi 110029, India.
Ganesh Kumar ViswanathanDepartment of Hematology, All India Institute of Medical Sciences, New Delhi 110029, India.
Atul BatraDepartment of Medical Oncology, Dr. B.R.A. Institute Rotary Cancer Hospital, All India Institute of Medical Sciences, New Delhi 110029, India.ORCID 0000-0002-1934-8408
Goura Kishor RathDepartment of Radiotherapy, Dr. B.R.A. Institute Rotary Cancer Hospital, All India Institute of Medical Sciences, New Delhi 110029, India.
Showket HussainDivision of Molecular Oncology, National Institute of Cancer Prevention & Research, Noida 201301, India.ORCID 0000-0003-1456-9217
Garima JainDivision of Digital Health, National Institute for Research in Digital Health and Data Science, New Delhi 110029, India.
Aroonima MisraDivision of Oncology, National Institute of Child health and Development Research, New Delhi 110029, India.ORCID 0000-0003-2884-3600
Ekta RahulDepartment of Pathology, All India Institute of Medical Sciences, New Delhi 110029, India.
Sameer BakhshiDepartment of Medical Oncology, Dr. B.R.A. Institute Rotary Cancer Hospital, All India Institute of Medical Sciences, New Delhi 110029, India.
Pranay TanwarLaboratory Oncology Unit, Dr. B.R.A. Institute Rotary Cancer Hospital, All India Institute of Medical Sciences, New Delhi 110029, India.ORCID 0000-0002-2357-976X

Funding

Science and Engineering Research Board EEQ/2016/000318
6 · The paper itself

Abstract

BACKGROUND/

objectivesAcute myeloid leukemia (AML) is a hematologic malignancy of substantial genetic heterogeneity that exhibits clonal growth and blocked differentiation of myeloid progenitor cells in the bone marrow (BM). Genetic alterations play a vital role in the progression, initiation, and recurrence of AML. The aim of this study was to identify the somatic mutational landscape, pathway perturbations, mutational signatures, and druggability of baseline (at diagnosis) and relapsed AML to determine possible treatment options.

methodsBetween 2020 and 2026, 120 diagnostic BM or PB samples were prospectively collected from baseline (at diagnosis) AML patients at AIIMS, New Delhi. WES was conducted of 10 BM samples from five baseline (at diagnosis) and five relapsed patients with AML. Somatic variations were identified by GATK-Mutect2 and annotated by ANNOVAR. Driver genes and pathways were analyzed using Maftools, OncodriveCLUST, and clusterProfiler. Extraction of mutational signatures was performed with the help of SigProfilerExtractor, and evaluation of drug-gene interactions was carried out with the help of DGIdb. In addition, RT-PCR was performed to estimate the expression level of

resultsMissense mutations were the most common variant type in the cohort, and C > T transitions were the predominant nucleotide substitution pattern. There were recurrent mutations in core AML driver genes, including

conclusionsThis study highlights the somatic mutational landscape of baseline (at diagnosis) and relapsed AML and identifies recurrent driver genes, altered signaling pathways, mutational signatures, and actionable targets with possible therapeutic relevance. The integration of mutational and expression analyses further supports a potential role for

Indexed as

acute myeloid leukemiamutational signatureswhole-exome sequencing

Identifiers

PMID42192895
PMCPMC13204356

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