Whole exome sequencing of pediatric leukemia reveals a novel InDel within FLT-3 gene in AML patient from Mizo tribal population, Northeast India.

Child Humans INDEL Mutation India Leukemia, Myeloid, Acute / diagnosis Mutation Exome Sequencing fms-Like Tyrosine Kinase 3 / genetics
Exome sequencing FLT3 Mizoram Non-synonymous PTPN11 Pediatric leukemia

Journal

BMC genomic data
ISSN: 2730-6844
Titre abrégé: BMC Genom Data
Pays: England
ID NLM: 101775394

Informations de publication

Date de publication:
28 03 2022
Historique:
received: 29 10 2021
accepted: 09 03 2022
entrez: 30 3 2022
pubmed: 31 3 2022
medline: 5 4 2022
Statut: epublish

Résumé

Leukemia is the most common type of cancer in pediatrics. Genomic mutations contribute towards the molecular mechanism of disease progression and also helps in diagnosis and prognosis. This is the first scientific mutational exploration in whole exome of pediatric leukemia patients from a cancer prone endogamous Mizo tribal population, Northeast India. Three non-synonymous exonic variants in NOTCH1 (p.V1699E), MUTYH (p.G143E) and PTPN11 (p.S502P) were found to be pathogenic. A novel in-frame insertion-deletion within the juxtamembrane domain of FLT3 (p.Tyr589_Tyr591delinsTrpAlaGlyAsp) was also observed. These unique variants could have a potential mutational significance and these could be candidate genes in elucidating the possibility of predisposition to cancers within the population. This study merits further investigation for its role in diagnosis and prognosis and also suggests the need for population wide screening to identify unique mutations that might play a key role towards precision medicine.

Sections du résumé

BACKGROUND
Leukemia is the most common type of cancer in pediatrics. Genomic mutations contribute towards the molecular mechanism of disease progression and also helps in diagnosis and prognosis. This is the first scientific mutational exploration in whole exome of pediatric leukemia patients from a cancer prone endogamous Mizo tribal population, Northeast India.
RESULT
Three non-synonymous exonic variants in NOTCH1 (p.V1699E), MUTYH (p.G143E) and PTPN11 (p.S502P) were found to be pathogenic. A novel in-frame insertion-deletion within the juxtamembrane domain of FLT3 (p.Tyr589_Tyr591delinsTrpAlaGlyAsp) was also observed.
CONCLUSION
These unique variants could have a potential mutational significance and these could be candidate genes in elucidating the possibility of predisposition to cancers within the population. This study merits further investigation for its role in diagnosis and prognosis and also suggests the need for population wide screening to identify unique mutations that might play a key role towards precision medicine.

Identifiants

DOI: 10.1186/s12863-022-01037-x PMID: 35350997 PMC: PMC8961913
pubmed: 35350997
doi: 10.1186/s12863-022-01037-x
pii: 10.1186/s12863-022-01037-x
pmc: PMC8961913
doi:

Substances chimiques

FLT3 protein, human EC 2.7.10.1
fms-Like Tyrosine Kinase 3 EC 2.7.10.1

Types de publication

Journal Article

Langues

eng

Sous-ensembles de citation

IM

Pagination

23

Informations de copyright

© 2022. The Author(s).

Références

Hum Mutat. 2008 Aug;29(8):992-1006
pubmed: 18470943
JCO Glob Oncol. 2020 Jul;6:1063-1075
pubmed: 32673076
Mol Biol Rep. 2011 Jan;38(1):445-51
pubmed: 20364408
Leuk Lymphoma. 2013 Jan;54(1):145-52
pubmed: 22721497
Blood. 2004 Mar 15;103(6):2325-31
pubmed: 14644997
Leukemia. 1997 Sep;11(9):1447-52
pubmed: 9305596
Blood. 2006 Sep 1;108(5):1542-50
pubmed: 16684964
Nucleic Acids Res. 2010 Sep;38(16):e164
pubmed: 20601685
Blood. 2003 Jun 1;101(11):4640-1
pubmed: 12756163
Leukemia. 2008 May;22(5):915-31
pubmed: 18288131
Blood. 2011 May 5;117(18):4746-58
pubmed: 21389315
Blood. 1991 Feb 1;77(3):440-7
pubmed: 1991161
Biol Cell. 2004 May;96(4):303-11
pubmed: 15145534
J Exp Med. 2013 Feb 11;210(2):321-37
pubmed: 23359069
J Cancer Res Clin Oncol. 2003 Oct;129(10):604-5
pubmed: 12920580
Science. 2004 Oct 8;306(5694):269-71
pubmed: 15472075
Biochemistry. 2016 Apr 19;55(15):2269-77
pubmed: 27030275
Nucleic Acids Res. 2003 Jul 1;31(13):3812-4
pubmed: 12824425
J Natl Cancer Inst Monogr. 2008;(39):87-90
pubmed: 18648011
Annu Rev Genomics Hum Genet. 2002;3:179-98
pubmed: 12194988
Neuro Oncol. 2016 May;18(5):752-3
pubmed: 26902849
Genome Res. 2010 Sep;20(9):1297-303
pubmed: 20644199
Bioinformatics. 2014 Aug 1;30(15):2114-20
pubmed: 24695404
Nature. 2020 May;581(7809):434-443
pubmed: 32461654
Nucleic Acids Res. 2017 Jan 4;45(D1):D840-D845
pubmed: 27899611
Nucleic Acids Res. 2016 Jan 4;44(D1):D862-8
pubmed: 26582918
Cancer Res. 2017 Jan 15;77(2):390-400
pubmed: 27872090
Ann Oncol. 2011 Mar;22(3):696-704
pubmed: 20693296
Blood. 2007 Mar 15;109(6):2589-96
pubmed: 17105820
Blood. 2006 Aug 15;108(4):1339-45
pubmed: 16627759
Database (Oxford). 2018 Jan 1;2018:1-10
pubmed: 30184194
J Exp Med. 2013 Feb 11;210(2):301-19
pubmed: 23359070
Leukemia. 1998 Sep;12(9):1333-7
pubmed: 9737679
Leukemia. 2006 Jun;20(6):965-70
pubmed: 16598313
Nucleic Acids Res. 2021 Jan 8;49(D1):D1225-D1232
pubmed: 33095885
Oncogene. 2004 Sep 2;23(40):6820-2
pubmed: 15273732
Leukemia. 2000 Apr;14(4):684-7
pubmed: 10764155
Blood. 2004 Jul 15;104(2):307-13
pubmed: 14982869
Nucleic Acids Res. 2005 Jan 1;33(Database issue):D514-7
pubmed: 15608251
Nat Genet. 2017 Jan 31;49(2):170-174
pubmed: 28138153
Blood. 2009 Apr 23;113(17):4074-7
pubmed: 18483393
Blood. 2002 Sep 1;100(5):1532-42
pubmed: 12176867
Leukemia. 2004 Nov;18(11):1831-4
pubmed: 15385933
Oncogene. 2002 Apr 11;21(16):2555-63
pubmed: 11971190
Cancer Res. 2016 Apr 15;76(8):2197-205
pubmed: 26941285
Nat Methods. 2014 Apr;11(4):361-2
pubmed: 24681721
Nat Med. 2018 Jan;24(1):103-112
pubmed: 29227476
Nature. 2015 Oct 1;526(7571):68-74
pubmed: 26432245
Leuk Lymphoma. 2006 Nov;47(11):2400-3
pubmed: 17107915
Genes Chromosomes Cancer. 2012 Oct;51(10):910-24
pubmed: 22674490
Genome Res. 1999 Aug;9(8):677-9
pubmed: 10447503
Blood. 2008 May 15;111(10):4930-3
pubmed: 18305215
Exp Hematol. 2001 Sep;29(9):1041-52
pubmed: 11532344
Blood. 2005 Nov 15;106(10):3618-20
pubmed: 16046528
J Immunol. 2003 Jun 1;170(11):5538-48
pubmed: 12759431
Curr Protoc Hum Genet. 2013 Jan;Chapter 7:Unit7.20
pubmed: 23315928
Blood. 2011 Sep 15;118(11):3080-7
pubmed: 21680795
Blood. 2005 Sep 15;106(6):2183-5
pubmed: 15928039
Hum Genet. 2014 Jan;133(1):1-9
pubmed: 24077912
Bioinformatics. 2019 Jun 1;35(11):1978-1980
pubmed: 30376034
Int J Clin Exp Pathol. 2014 Feb 15;7(3):882-9
pubmed: 24695418

Auteurs

Andrew Vanlallawma (A)

Department of Biotechnology, Mizoram University, Aizawl, Mizoram, 796004, India.

Doris Lallawmzuali (D)

Department of Pathology, Mizoram State Cancer Institute, Zemabawk, Aizawl, Mizoram, 796017, India.

Jeremy L Pautu (JL)

Department of Medical Oncology, Mizoram State Cancer Institute, Zemabawk, Aizawl, Mizoram, 796017, India.

Vinod Scaria (V)

CSIR - Institute of Genomics and Integrative Biology, South Campus, Mathura Road, New Delhi, 110025, India.

Sridhar Sivasubbu (S)

CSIR - Institute of Genomics and Integrative Biology, South Campus, Mathura Road, New Delhi, 110025, India.

Nachimuthu Senthil Kumar (NS)

Department of Biotechnology, Mizoram University, Aizawl, Mizoram, 796004, India. nskmzu@gmail.com.

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Classifications MeSH

questionsmedicales.fr › Personnes › Tranches d'âge › Enfant › Whole exome sequencing of pediatric leukemia...
questionsmedicales.fr › Eucaryotes › Animaux › Chordés › Vertébrés › Mammifères › Eutheria › Primates › Haplorhini › Catarrhini › Hominidae › Humains › Whole exome sequencing of pediatric leukemia...
questionsmedicales.fr › Phénomènes génétiques › Mutagenèse › Mutation de type INDEL › Whole exome sequencing of pediatric leukemia...
questionsmedicales.fr › Régions géographiques › Asie › Asie de l'Ouest › Asie du Sud › Inde › Whole exome sequencing of pediatric leukemia...
questionsmedicales.fr › Tumeurs › Tumeurs par type histologique › Leucémies › Leucémie myéloïde › Leucémie aigüe myéloïde › Whole exome sequencing of pediatric leukemia...
questionsmedicales.fr › Phénomènes génétiques › Variation génétique › Mutation › Whole exome sequencing of pediatric leukemia...
questionsmedicales.fr › Techniques d'investigation › Techniques génétiques › Analyse de séquence › Analyse de séquence d'ADN › Séquençage du génome entier › Séquençage de l'exome › Whole exome sequencing of pediatric leukemia...
questionsmedicales.fr › Acides aminés, peptides et protéines › Protéines › Protéines tumorales › Protéines oncogènes › Protéines proto-oncogènes › Tyrosine kinase-3 de type fms › Whole exome sequencing of pediatric leukemia...