<abstract xmlns="http://www.w3.org/1999/xhtml">

<p>Children with Down syndrome (DS) are at markedly increased risk for acute lymphoblastic leukaemia (ALL). DS is caused by trisomy of chromosome 21 affecting approximately 1 in 732 newborns in the USA. ALL is the most common cancer in children and constitutes approximately 25% of cancer diagnoses among children under the age of 15. Different protocols for treatment and management of paediatric ALL are available; however, DS children with ALL (DS-ALL) have increased risk of therapy-related toxicity compared to those without DS. Herein, we summarize the available literature on inherited predisposition for ALL, and possibilities for molecular therapy and treatment for DS-ALL patients.</p></abstract>

Children with Down syndrome (DS) are at markedly increased risk for acute lymphoblastic leukaemia (ALL). DS is caused by trisomy of chromosome 21 affecting approximately 1 in 732 newborns in the USA. ALL is the most common cancer in children and constitutes approximately 25% of cancer diagnoses among children under the age of 15. Different protocols for treatment and management of paediatric ALL are available; however, DS children with ALL (DS-ALL) have increased risk of therapy-related toxicity compared to those without DS. Herein, we summarize the available literature on inherited predisposition for ALL, and possibilities for molecular therapy and treatment for DS-ALL patients.

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

Faculty of Medical Sciences, Department of Pharmacy

Institut für Humangenetik, Universitätsklinikum Jena, Friedrich Schiller Universität

Journal of Mother and Child

This work is licensed under the Creative Commons Attribution 4.0 International License.

Children with Down syndrome (DS) are at markedly increased risk for acute lymphoblastic leukaemia (ALL). DS is caused by trisomy of chromosome 21 affecting...

Gene	Position of changes	References
JAK	V617F	[17]
JAK	p.R683G	[19]
JAK	p.R683K	[19]
JAK1	p.V658F	[12]
JAK2	p.T875N	[12]
JAK2	p.G861W	[12]
GATA3	c.778+1123T; c.779- 1748	[24]
PIP4K2A	c.678+761C>G	[24]
MSH6	p.T915A	[27]
IL7R	p.S185C	[28]
CRLF2	p.F232C	[28]
USP9X	p.F1115Lfs	[28]
PAX5	p.Gly186Ser	[30; 31]
IKZF1	p.Arg162Pro	[32]
IKZF1	p.His163Trp	[33]
IKZF1	p.Arg162Leu	[34]
IKZF1	p.Arg162Gln	[34]
NBN	p.R162W	[34]
NBN	p.K233Sfs*4	[34]
RTEL1	p.R918W	[34]
MLLT1	p.R473Q	[34]
FOXP1	p.Q3Sfs*80	[34]
ERG	c.373+951A>G	[4; 5]
CDKN2A	p.A148T	[37]
ETV6	p.A377T	[39]
ETV6	p.Y401N	[39]
ETV6	p.Pro214Leu	[40]
ETV6	p.Gln198*	[40]
ETV6	p.Leu379Pro	[40]
NF1	p.Val146Ile	[40]
RUNX1	p.Ile366_Gly367dup	[40]
ASXL1	p.Pro845Leu	[40]

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

Article Category: Review articles

Pubblicato online: 20 lug 2022

Pagine: 104 - 110

Ricevuto: 12 gen 2022

Accettato: 05 apr 2022

DOI: https://doi.org/10.34763/jmotherandchild.20222601.d-22-00002

Parole chiave
Down syndrome (DS), acute lymphoblastic leukaemia (ALL), gene mutations, therapy

© 2022 Emir Behluli et al., published by Sciendo

This work is licensed under the Creative Commons Attribution 4.0 International License.

Figure 1

Mutations in genes encountered in people with DS-ALL

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

Article Category: Review articles

Pubblicato online: 20 lug 2022

Pagine: 104 - 110

Ricevuto: 12 gen 2022

Accettato: 05 apr 2022

DOI: https://doi.org/10.34763/jmotherandchild.20222601.d-22-00002

Parole chiaveDown syndrome (DS), acute lymphoblastic leukaemia (ALL), gene mutations, therapy

© 2022 Emir Behluli et al., published by Sciendo

This work is licensed under the Creative Commons Attribution 4.0 International License.

Figure 1

Mutations in genes encountered in people with DS-ALL

Parole chiave
Down syndrome (DS), acute lymphoblastic leukaemia (ALL), gene mutations, therapy