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Suspicions regarding the genetic inheritance of acute lymphoblastic leukemia in patients with down syndrome Cover

Suspicions regarding the genetic inheritance of acute lymphoblastic leukemia in patients with down syndrome

Journal of Mother and Child
Volume 26 (2022): Issue 1 (March 2022)
By: Emir Behluli,  Nexhibe Nuhii,  Thomas Liehr and  Gazmend Temaj  
Open Access
|Jul 2022

Figures & Tables

Figure 1

Somatic alterations found in DS associated with DS. Four most common types of association of DS with ALL in addition to constitutive trisomy 21.
Somatic alterations found in DS associated with DS. Four most common types of association of DS with ALL in addition to constitutive trisomy 21.

Mutations in genes encountered in people with DS-ALL

GenePosition of changesReferences
JAKV617F[17]
JAKp.R683G[19]
JAKp.R683K[19]
JAK1p.V658F[12]
JAK2p.T875N[12]
JAK2p.G861W[12]
GATA3c.778+1123T; c.779- 1748[24]
PIP4K2Ac.678+761C>G[24]
MSH6p.T915A[27]
IL7Rp.S185C[28]
CRLF2p.F232C[28]
USP9Xp.F1115Lfs[28]
PAX5p.Gly186Ser[30; 31]
IKZF1p.Arg162Pro[32]
IKZF1p.His163Trp[33]
IKZF1p.Arg162Leu[34]
IKZF1p.Arg162Gln[34]
NBNp.R162W[34]
NBNp.K233Sfs*4[34]
RTEL1p.R918W[34]
MLLT1p.R473Q[34]
FOXP1p.Q3Sfs*80[34]
ERGc.373+951A>G[4; 5]
CDKN2Ap.A148T[37]
ETV6p.A377T[39]
ETV6p.Y401N[39]
ETV6p.Pro214Leu[40]
ETV6p.Gln198*[40]
ETV6p.Leu379Pro[40]
NF1p.Val146Ile[40]
RUNX1p.Ile366_Gly367dup[40]
ASXL1p.Pro845Leu[40]
DOI: https://doi.org/10.34763/jmotherandchild.20222601.d-22-00002 | Journal eISSN: 2719-535X | Journal ISSN: 2719-6488
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Language: English
Page range: 104 - 110
Submitted on: Jan 12, 2022
Accepted on: Apr 5, 2022
Published on: Jul 20, 2022
Published by: Institute of Mother and Child
In partnership with: Paradigm Publishing Services
Publication frequency: 1 issue per year
Keywords:
Down syndrome (DS),
acute lymphoblastic leukaemia (ALL),
gene mutations,
therapy
Related subjects:
Medicine,
Clinical medicine,
Pediatrics and juvenile medicine,
Paediatric haematology and oncology,
Public health

© 2022 Emir Behluli, Nexhibe Nuhii, Thomas Liehr, Gazmend Temaj, published by Institute of Mother and Child
This work is licensed under the Creative Commons Attribution 4.0 License.

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