MYSTERY OF iAMP

Objective: Intrachromosomal amplification of chromosome 21 (iAMP21) is defined as the presence of three or more RUNX1 signals on a single chromosome, or a total of five or more RUNX1 signals per cell. It occurs in 2% of pediatric B-cell acute lymphoblastic leukemia (ALL), but is associated with olde...

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Autores principales: Fatma Burçin KURTİPEK, Dilek KAÇAR, Ebru TUNÇEZ, Melek IŞIK, Neşe YARALI
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Lenguaje:EN
Publicado: Elsevier 2021
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Acceso en línea:https://doaj.org/article/c9c61f0e417f4c0d8ab14cdbfe8bc9c8
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spelling oai:doaj.org-article:c9c61f0e417f4c0d8ab14cdbfe8bc9c82021-11-10T04:33:36ZMYSTERY OF iAMP2531-137910.1016/j.htct.2021.10.994https://doaj.org/article/c9c61f0e417f4c0d8ab14cdbfe8bc9c82021-11-01T00:00:00Zhttp://www.sciencedirect.com/science/article/pii/S253113792101141Xhttps://doaj.org/toc/2531-1379Objective: Intrachromosomal amplification of chromosome 21 (iAMP21) is defined as the presence of three or more RUNX1 signals on a single chromosome, or a total of five or more RUNX1 signals per cell. It occurs in 2% of pediatric B-cell acute lymphoblastic leukemia (ALL), but is associated with older age, low white blood cell count, and high risk of relapse.In our study, it was aimed to review our patients with ALL in terms of possible iAMP21 at the time of diagnosis and to evaluate the clinical features. Methodology: The results of the patients who were diagnosed with B-cell ALL between 2012 and 2019 and whose treatment was completed, and whose signal increase in the RUNX1 region in the t(12;21) FISH analysis were detected, were reviewed together with the medical genetics section in terms of possible i amp. Those with 5 or more signal increases on a single gene in RUNX1 were considered as i amp. Results: In the t(12;21) FISH analysis, signal increases were observed in the RUNX 1 region in 15 (8.3%) of 180 B-cell ALL patients included in the study. Although these signal increases varied between 3-4 in 14 patients, 4-7 signal increases were detected in only 1 patient and were considered as iamp. The patient with iamp was a 6-year-old patient with a white blood cell count of 7600/mm3 at presentation and followed in the intermediate risk group. . Bone marrow relapse developed in 2 years. Conclusion: The presence of iAMP21 is associated with a delay in treatment response and increased recurrence in the late period. Patients should be carefully evaluated for iAMP21.Fatma Burçin KURTİPEKDilek KAÇAREbru TUNÇEZMelek IŞIKNeşe YARALIElsevierarticleDiseases of the blood and blood-forming organsRC633-647.5ENHematology, Transfusion and Cell Therapy, Vol 43, Iss , Pp S25-S26 (2021)
institution DOAJ
collection DOAJ
language EN
topic Diseases of the blood and blood-forming organs
RC633-647.5
spellingShingle Diseases of the blood and blood-forming organs
RC633-647.5
Fatma Burçin KURTİPEK
Dilek KAÇAR
Ebru TUNÇEZ
Melek IŞIK
Neşe YARALI
MYSTERY OF iAMP
description Objective: Intrachromosomal amplification of chromosome 21 (iAMP21) is defined as the presence of three or more RUNX1 signals on a single chromosome, or a total of five or more RUNX1 signals per cell. It occurs in 2% of pediatric B-cell acute lymphoblastic leukemia (ALL), but is associated with older age, low white blood cell count, and high risk of relapse.In our study, it was aimed to review our patients with ALL in terms of possible iAMP21 at the time of diagnosis and to evaluate the clinical features. Methodology: The results of the patients who were diagnosed with B-cell ALL between 2012 and 2019 and whose treatment was completed, and whose signal increase in the RUNX1 region in the t(12;21) FISH analysis were detected, were reviewed together with the medical genetics section in terms of possible i amp. Those with 5 or more signal increases on a single gene in RUNX1 were considered as i amp. Results: In the t(12;21) FISH analysis, signal increases were observed in the RUNX 1 region in 15 (8.3%) of 180 B-cell ALL patients included in the study. Although these signal increases varied between 3-4 in 14 patients, 4-7 signal increases were detected in only 1 patient and were considered as iamp. The patient with iamp was a 6-year-old patient with a white blood cell count of 7600/mm3 at presentation and followed in the intermediate risk group. . Bone marrow relapse developed in 2 years. Conclusion: The presence of iAMP21 is associated with a delay in treatment response and increased recurrence in the late period. Patients should be carefully evaluated for iAMP21.
format article
author Fatma Burçin KURTİPEK
Dilek KAÇAR
Ebru TUNÇEZ
Melek IŞIK
Neşe YARALI
author_facet Fatma Burçin KURTİPEK
Dilek KAÇAR
Ebru TUNÇEZ
Melek IŞIK
Neşe YARALI
author_sort Fatma Burçin KURTİPEK
title MYSTERY OF iAMP
title_short MYSTERY OF iAMP
title_full MYSTERY OF iAMP
title_fullStr MYSTERY OF iAMP
title_full_unstemmed MYSTERY OF iAMP
title_sort mystery of iamp
publisher Elsevier
publishDate 2021
url https://doaj.org/article/c9c61f0e417f4c0d8ab14cdbfe8bc9c8
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