PMID- 35995457 OWN - NLM STAT- MEDLINE DCOM- 20221220 LR - 20240203 IS - 1029-2403 (Electronic) IS - 1026-8022 (Linking) VI - 63 IP - 13 DP - 2022 Dec TI - Clinicopathologic and genetic evaluation of B-lymphoblastic leukemia with intrachromosomal amplification of chromosome 21 (iAMP21) in adult patients. PG - 3200-3207 LID - 10.1080/10428194.2022.2113524 [doi] AB - Intrachromosomal amplification of chromosome 21 (iAMP21) defines a rare provisional entity of B-cell acute lymphoblastic leukemia (B-ALL) in the current WHO classification and has been described as specific for pediatric patients with a median age at diagnosis of 9-10 years. We report two adult cases of B-ALL with iAMP21, one 31-year-old woman and one 40-year-old man, identified by karyotyping and next generation sequencing (NGS), with fluorescence in situ hybridization (FISH) pattern meeting diagnostic criteria for iAMP21. Both patients were treated on high-risk chemotherapeutic regimen followed by stem cell transplant. In contrast to reported high relapse rate within the first three years in pediatric population, our adult patients are alive in remission, with the interval from diagnosis to last follow up of 2.95 and 3.96 years. Our cases illustrate the importance of screening for iAMP21 in adult population when ETV6-RUNX1 FISH testing is not routinely performed for adult patients. FAU - Zak, Taylor AU - Zak T AD - Department of Pathology, Northwestern University Feinberg School of Medicine, Chicago, IL, USA. FAU - Gao, Juehua AU - Gao J AD - Department of Pathology, Northwestern University Feinberg School of Medicine, Chicago, IL, USA. FAU - Behdad, Amir AU - Behdad A AD - Department of Pathology, Northwestern University Feinberg School of Medicine, Chicago, IL, USA. AD - Department of Hematology and Oncology, Northwestern University Feinberg School of Medicine, Chicago, IL, USA. FAU - Mehta, Jayesh AU - Mehta J AD - Department of Hematology and Oncology, Northwestern University Feinberg School of Medicine, Chicago, IL, USA. FAU - Altman, Jessica K AU - Altman JK AD - Department of Hematology and Oncology, Northwestern University Feinberg School of Medicine, Chicago, IL, USA. FAU - Ji, Peng AU - Ji P AD - Department of Pathology, Northwestern University Feinberg School of Medicine, Chicago, IL, USA. FAU - Lu, Xinyan AU - Lu X AD - Department of Pathology, Northwestern University Feinberg School of Medicine, Chicago, IL, USA. FAU - Sukhanova, Madina AU - Sukhanova M AUID- ORCID: 0000-0002-1843-7038 AD - Department of Pathology, Northwestern University Feinberg School of Medicine, Chicago, IL, USA. LA - eng GR - R01 DK102718/DK/NIDDK NIH HHS/United States GR - R01 HL148012/HL/NHLBI NIH HHS/United States GR - R01 AI148012/AI/NIAID NIH HHS/United States PT - Case Reports PT - Journal Article PT - Research Support, N.I.H., Extramural DEP - 20220822 PL - United States TA - Leuk Lymphoma JT - Leukemia & lymphoma JID - 9007422 SB - IM MH - Child MH - Humans MH - In Situ Hybridization, Fluorescence MH - Chromosomes, Human, Pair 21/genetics MH - *Precursor B-Cell Lymphoblastic Leukemia-Lymphoma/diagnosis/genetics/therapy MH - Chromosome Aberrations MH - *Leukemia, B-Cell OTO - NOTNLM OT - B-cell ALL OT - iAMP21, FISH testing EDAT- 2022/08/23 06:00 MHDA- 2022/12/21 06:00 CRDT- 2022/08/22 20:52 PHST- 2022/08/23 06:00 [pubmed] PHST- 2022/12/21 06:00 [medline] PHST- 2022/08/22 20:52 [entrez] AID - 10.1080/10428194.2022.2113524 [doi] PST - ppublish SO - Leuk Lymphoma. 2022 Dec;63(13):3200-3207. doi: 10.1080/10428194.2022.2113524. Epub 2022 Aug 22.