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Characterization of unusual iAMP21 B‐lymphoblastic leukemia (iAMP21‐ALL) from the Mayo Clinic and Children's Oncology Group

Acute lymphoblastic leukemia (B‐ALL) with intrachromosomal amplification of chromosome 21 (iAMP21‐ALL) represents a recurrent high‐risk cytogenetic abnormality and accurate identification is critical for appropriate clinical management. Identification of iAMP21‐ALL has historically relied on fluores...

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Autores principales: Koleilat, Alaa, Smadbeck, James B., Zepeda‐Mendoza, Cinthya J., Williamson, Cynthia M., Pitel, Beth A., Golden, Crystal L., Xu, Xinjie, Greipp, Patricia T., Ketterling, Rhett P., Hoppman, Nicole L., Peterson, Jess F., Harrison, Christine J., Akkari, Yassmine M. N., Tsuchiya, Karen D., Shago, Mary, Baughn, Linda B.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley & Sons, Inc. 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9549522/
https://www.ncbi.nlm.nih.gov/pubmed/35771717
http://dx.doi.org/10.1002/gcc.23084
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author Koleilat, Alaa
Smadbeck, James B.
Zepeda‐Mendoza, Cinthya J.
Williamson, Cynthia M.
Pitel, Beth A.
Golden, Crystal L.
Xu, Xinjie
Greipp, Patricia T.
Ketterling, Rhett P.
Hoppman, Nicole L.
Peterson, Jess F.
Harrison, Christine J.
Akkari, Yassmine M. N.
Tsuchiya, Karen D.
Shago, Mary
Baughn, Linda B.
author_facet Koleilat, Alaa
Smadbeck, James B.
Zepeda‐Mendoza, Cinthya J.
Williamson, Cynthia M.
Pitel, Beth A.
Golden, Crystal L.
Xu, Xinjie
Greipp, Patricia T.
Ketterling, Rhett P.
Hoppman, Nicole L.
Peterson, Jess F.
Harrison, Christine J.
Akkari, Yassmine M. N.
Tsuchiya, Karen D.
Shago, Mary
Baughn, Linda B.
author_sort Koleilat, Alaa
collection PubMed
description Acute lymphoblastic leukemia (B‐ALL) with intrachromosomal amplification of chromosome 21 (iAMP21‐ALL) represents a recurrent high‐risk cytogenetic abnormality and accurate identification is critical for appropriate clinical management. Identification of iAMP21‐ALL has historically relied on fluorescence in situ hybridization (FISH) using a RUNX1 probe. Current classification requires ≥ five copies of RUNX1 per cell and ≥ three additional copies of RUNX1 on a single abnormal iAMP21‐chromosome. We sought to evaluate the performance of the RUNX1 probe in the identification of iAMP21‐ALL. This study was a retrospective evaluation of iAMP21‐ALL in the Mayo Clinic and Children's Oncology Group cohorts. Of 207 cases of iAMP21‐ALL, 188 (91%) were classified as “typical” iAMP21‐ALL, while 19 (9%) cases were classified as “unusual” iAMP21‐ALL. The “unusual” iAMP21 cases did not meet the current definition of iAMP21 by FISH but were confirmed to have iAMP21 by chromosomal microarray. Half of the “unusual” iAMP21‐ALL cases had less than five RUNX1 signals, while the remainder had ≥ five RUNX1 signals with some located apart from the abnormal iAMP21‐chromosome. Nine percent of iAMP21‐ALL cases fail to meet the FISH definition of iAMP21‐ALL demonstrating that laboratories are at risk of misidentification of iAMP21‐ALL when relying only on the RUNX1 FISH probe. Incorporation of chromosomal microarray testing circumvents these risks.
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spelling pubmed-95495222022-12-30 Characterization of unusual iAMP21 B‐lymphoblastic leukemia (iAMP21‐ALL) from the Mayo Clinic and Children's Oncology Group Koleilat, Alaa Smadbeck, James B. Zepeda‐Mendoza, Cinthya J. Williamson, Cynthia M. Pitel, Beth A. Golden, Crystal L. Xu, Xinjie Greipp, Patricia T. Ketterling, Rhett P. Hoppman, Nicole L. Peterson, Jess F. Harrison, Christine J. Akkari, Yassmine M. N. Tsuchiya, Karen D. Shago, Mary Baughn, Linda B. Genes Chromosomes Cancer Research Articles Acute lymphoblastic leukemia (B‐ALL) with intrachromosomal amplification of chromosome 21 (iAMP21‐ALL) represents a recurrent high‐risk cytogenetic abnormality and accurate identification is critical for appropriate clinical management. Identification of iAMP21‐ALL has historically relied on fluorescence in situ hybridization (FISH) using a RUNX1 probe. Current classification requires ≥ five copies of RUNX1 per cell and ≥ three additional copies of RUNX1 on a single abnormal iAMP21‐chromosome. We sought to evaluate the performance of the RUNX1 probe in the identification of iAMP21‐ALL. This study was a retrospective evaluation of iAMP21‐ALL in the Mayo Clinic and Children's Oncology Group cohorts. Of 207 cases of iAMP21‐ALL, 188 (91%) were classified as “typical” iAMP21‐ALL, while 19 (9%) cases were classified as “unusual” iAMP21‐ALL. The “unusual” iAMP21 cases did not meet the current definition of iAMP21 by FISH but were confirmed to have iAMP21 by chromosomal microarray. Half of the “unusual” iAMP21‐ALL cases had less than five RUNX1 signals, while the remainder had ≥ five RUNX1 signals with some located apart from the abnormal iAMP21‐chromosome. Nine percent of iAMP21‐ALL cases fail to meet the FISH definition of iAMP21‐ALL demonstrating that laboratories are at risk of misidentification of iAMP21‐ALL when relying only on the RUNX1 FISH probe. Incorporation of chromosomal microarray testing circumvents these risks. John Wiley & Sons, Inc. 2022-07-19 2022-12 /pmc/articles/PMC9549522/ /pubmed/35771717 http://dx.doi.org/10.1002/gcc.23084 Text en © 2022 The Authors. Genes, Chromosomes and Cancer published by Wiley Periodicals LLC. https://creativecommons.org/licenses/by/4.0/This is an open access article under the terms of the http://creativecommons.org/licenses/by/4.0/ (https://creativecommons.org/licenses/by/4.0/) License, which permits use, distribution and reproduction in any medium, provided the original work is properly cited.
spellingShingle Research Articles
Koleilat, Alaa
Smadbeck, James B.
Zepeda‐Mendoza, Cinthya J.
Williamson, Cynthia M.
Pitel, Beth A.
Golden, Crystal L.
Xu, Xinjie
Greipp, Patricia T.
Ketterling, Rhett P.
Hoppman, Nicole L.
Peterson, Jess F.
Harrison, Christine J.
Akkari, Yassmine M. N.
Tsuchiya, Karen D.
Shago, Mary
Baughn, Linda B.
Characterization of unusual iAMP21 B‐lymphoblastic leukemia (iAMP21‐ALL) from the Mayo Clinic and Children's Oncology Group
title Characterization of unusual iAMP21 B‐lymphoblastic leukemia (iAMP21‐ALL) from the Mayo Clinic and Children's Oncology Group
title_full Characterization of unusual iAMP21 B‐lymphoblastic leukemia (iAMP21‐ALL) from the Mayo Clinic and Children's Oncology Group
title_fullStr Characterization of unusual iAMP21 B‐lymphoblastic leukemia (iAMP21‐ALL) from the Mayo Clinic and Children's Oncology Group
title_full_unstemmed Characterization of unusual iAMP21 B‐lymphoblastic leukemia (iAMP21‐ALL) from the Mayo Clinic and Children's Oncology Group
title_short Characterization of unusual iAMP21 B‐lymphoblastic leukemia (iAMP21‐ALL) from the Mayo Clinic and Children's Oncology Group
title_sort characterization of unusual iamp21 b‐lymphoblastic leukemia (iamp21‐all) from the mayo clinic and children's oncology group
topic Research Articles
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9549522/
https://www.ncbi.nlm.nih.gov/pubmed/35771717
http://dx.doi.org/10.1002/gcc.23084
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