B-cell acute lymphoblastic leukemia with iAMP21 in a patient with Down syndrome due to a constitutional isodicentric chromosome 21

Verdoni, Angela M.; Bullock, Grant C.; Friehling, Erika; Meade, Julia; Yatsenko, Svetlana A.

doi:10.1016/s1096-7192(21)00158-x

Cited by 1 publication

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“…There are only a few cases reported in the literature with iAMP21 B-ALL in patients with constitutional structural abnormality of chromosome 21 [Cabrol et al, 1983;Falchi et al, 1987;Melnyk et al, 1995;Harrison et al, 2014;Harrison and Schwab, 2016;Tvrdik et al, 2019;Verdoni et al, 2022]. Here, we report the development of B-ALL with iAMP21 in a child with a constitutional ring chromosome 21.…”

Section: Introductionmentioning

confidence: 79%

“…BFB mechanism in somatic cells is considered to be the most plausible explanation based on analysis of bone marrow samples with iAMP21 Li et al, 2014;Harrison, 2015]. In rare cases, constitutional structural chromosomal abnormalities involving chromosome 21, such as the der(15;21) Robertsonian translocation and isodicentric chromosome 21, idic(21), are the predisposing factors to iAMP21 B-ALL [Li et al, 2014;Harrison and Schwab, 2016;Verdoni et al, 2022]. Carriers of a Robertsonian translocation between chromosomes 15 and 21, der(15;21)(q10;q10)c, have an approximately 2,700 times increased risk of developing ALL with iAMP21 through their propensity to undergo chromothripsis following replication [Li et al, 2014;Harrison and Schwab, 2016].…”

Section: Introductionmentioning

confidence: 99%

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B-Cell Acute Lymphoblastic Leukemia with iAMP21 in a Patient with Constitutional Ring Chromosome 21

Baloda

Aggarwal

Rosado

et al. 2022

Cytogenet Genome Res

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Pediatric B-cell acute lymphoblastic leukemia (B-ALL) is associated with various specific cytogenetic and molecular markers that significantly influence treatment and prognosis. Intrachromosomal amplification of chromosome 21 (iAMP21) defines a rare distinct cytogenetic subgroup of childhood B-ALL, which is characterized by amplification of region 21q22.12 comprising the <i>RUNX1</i> gene. Constitutional structural chromosomal abnormalities involving chromosome 21 confer an increased risk for B-ALL with iAMP21. Here, we report the development of B-ALL with iAMP21 in a 9-year-old child with a constitutional ring chromosome 21, r(21)c, uncovered after B-ALL diagnosis. Cytogenetic and microarray analysis of the post-therapy sample revealed an abnormal chromosome 21 lacking a satellite and having a deletion of the terminal 22q22.3 region, consistent with a constitutional ring chromosome 21, r(21)(p11.2q22). On a retrospective analysis, this ring chromosome was observed in the normal cells in the pre-treatment diagnostic specimen. Constitutional ring chromosome 21 may remain undetected in patients with mild or no neurodevelopmental phenotype, posing an unknown lifelong risk of developing B-ALL with iAMP21. Individuals with constitutional structural chromosome 21 rearrangements such as ring 21 require a close surveillance and long-term follow-up studies to establish their risk of B-ALL relapse and possibility of developing other malignancies. Germline analysis is recommended to all pediatric patients with iAMP21-related B-ALL to rule out structural chromosome 21 rearrangements and to elucidate molecular mechanisms of iAMP21 formation.

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