PMID- 33976639 OWN - NLM STAT- PubMed-not-MEDLINE LR - 20210514 IS - 1662-6575 (Print) IS - 1662-6575 (Electronic) IS - 1662-6575 (Linking) VI - 14 IP - 1 DP - 2021 Jan-Apr TI - Intrachromosomal Amplification of Chromosome 21 in Childhood Acute Lymphoblastic Leukemia: Study of 3 Cases. PG - 592-598 LID - 10.1159/000514107 [doi] AB - Acute lymphoblastic leukemia (ALL) is the most common malignancy of childhood. The presence or absence of a characteristic genetic abnormality usually observed in childhood ALL plays a very important role in determining the prognosis and stratification for treatment. Intrachromosomal amplification of chromosome 21 (iAMP21) is an uncommon high-risk chromosomal abnormality than can occur only in 2% of childhood B-cell precursor lymphoblastic leukemia. Molecular genetic analysis and the fluorescence in situ hybridization (FISH) technique are the basic methods used to detect the presence of the most common genetic abnormalities, the presence or absence of which has an impact on the patient's classification into the appropriate risk group. This work presents 3 BCP-ALL iAMP21-positive patients who were detected during routine genetic diagnostics using the FISH method and microarray test. iAMP21 is associated with a poor prognosis and high risk for relapse. Children with B-cell precursor lymphoblastic leukemia with this genetic entity are associated with a delayed treatment response. The FISH method and single-nucleotide polymorphism array provides a useful method to detect characteristic genetic changes. CI - Copyright (c) 2021 by S. Karger AG, Basel. FAU - Mroczkowska, Aleksandra AU - Mroczkowska A AD - Laboratory of Genetic Diagnostics, University Children's Hospital, Lublin, Poland. AD - Department of Hematology, Blood Neoplasms and Bone Marrow Transplantation, Laboratory of Molecular Biology and Cytogenetics, Wroclaw Medical University, Wroclaw, Poland. FAU - Lejman, Monika AU - Lejman M AD - Laboratory of Genetic Diagnostics, Medical University of Lublin, Lublin, Poland. LA - eng PT - Case Reports DEP - 20210329 PL - Switzerland TA - Case Rep Oncol JT - Case reports in oncology JID - 101517601 PMC - PMC8077425 OTO - NOTNLM OT - Acute lymphoblastic leukemia OT - Fluorescence in situ hybridization OT - Intrachromosomal amplification of chromosome 21 OT - Single-nucleotide polymorphismarray COIS- The authors have no conflicts of interest to declare. EDAT- 2021/05/13 06:00 MHDA- 2021/05/13 06:01 PMCR- 2021/03/29 CRDT- 2021/05/12 07:03 PHST- 2020/12/17 00:00 [received] PHST- 2020/12/20 00:00 [accepted] PHST- 2021/05/12 07:03 [entrez] PHST- 2021/05/13 06:00 [pubmed] PHST- 2021/05/13 06:01 [medline] PHST- 2021/03/29 00:00 [pmc-release] AID - cro-0014-0592 [pii] AID - 10.1159/000514107 [doi] PST - epublish SO - Case Rep Oncol. 2021 Mar 29;14(1):592-598. doi: 10.1159/000514107. eCollection 2021 Jan-Apr.