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Mixed phenotype acute leukemia in a child associated with a NUP98‐NSD1 fusion and NRAS p.Gly61Arg mutation

BACKGROUND: Mixed phenotype acute leukemia (MPAL) is a rare subset of acute leukemia in the pediatric population associated with genetic alterations seen in both acute lymphoblastic leukemia (ALL) and acute myeloid leukemia (AML). CASE: We describe a patient with MPAL with a NUP98 (nucleoporin 98)‐N...

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Autores principales: Ganapathi, Shireen S., Raikar, Sunil S., Yatsenko, Svetlana A., Djokic, Miroslav, Bukowinski, Andrew
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2021
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8388158/
https://www.ncbi.nlm.nih.gov/pubmed/33784031
http://dx.doi.org/10.1002/cnr2.1372
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author Ganapathi, Shireen S.
Raikar, Sunil S.
Yatsenko, Svetlana A.
Djokic, Miroslav
Bukowinski, Andrew
author_facet Ganapathi, Shireen S.
Raikar, Sunil S.
Yatsenko, Svetlana A.
Djokic, Miroslav
Bukowinski, Andrew
author_sort Ganapathi, Shireen S.
collection PubMed
description BACKGROUND: Mixed phenotype acute leukemia (MPAL) is a rare subset of acute leukemia in the pediatric population associated with genetic alterations seen in both acute lymphoblastic leukemia (ALL) and acute myeloid leukemia (AML). CASE: We describe a patient with MPAL with a NUP98 (nucleoporin 98)‐NSD1 gene fusion (nuclear receptor binding SET domain protein1) and NRAS (neuroblastoma RAS viral oncogene homolog mutation) p.Gly61Arg mutation who was treated with upfront AML‐based chemotherapy, received hematopoietic stem cell transplant (HSCT), but unfortunately died from relapsed disease. CONCLUSION: This case highlights the challenges faced in choosing treatment options in MPAL patients with complex genomics, with predominant myeloid features.
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spelling pubmed-83881582021-08-31 Mixed phenotype acute leukemia in a child associated with a NUP98‐NSD1 fusion and NRAS p.Gly61Arg mutation Ganapathi, Shireen S. Raikar, Sunil S. Yatsenko, Svetlana A. Djokic, Miroslav Bukowinski, Andrew Cancer Rep (Hoboken) Case Reports BACKGROUND: Mixed phenotype acute leukemia (MPAL) is a rare subset of acute leukemia in the pediatric population associated with genetic alterations seen in both acute lymphoblastic leukemia (ALL) and acute myeloid leukemia (AML). CASE: We describe a patient with MPAL with a NUP98 (nucleoporin 98)‐NSD1 gene fusion (nuclear receptor binding SET domain protein1) and NRAS (neuroblastoma RAS viral oncogene homolog mutation) p.Gly61Arg mutation who was treated with upfront AML‐based chemotherapy, received hematopoietic stem cell transplant (HSCT), but unfortunately died from relapsed disease. CONCLUSION: This case highlights the challenges faced in choosing treatment options in MPAL patients with complex genomics, with predominant myeloid features. John Wiley and Sons Inc. 2021-03-30 /pmc/articles/PMC8388158/ /pubmed/33784031 http://dx.doi.org/10.1002/cnr2.1372 Text en © 2021 The Authors. Cancer Reports 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 Case Reports
Ganapathi, Shireen S.
Raikar, Sunil S.
Yatsenko, Svetlana A.
Djokic, Miroslav
Bukowinski, Andrew
Mixed phenotype acute leukemia in a child associated with a NUP98‐NSD1 fusion and NRAS p.Gly61Arg mutation
title Mixed phenotype acute leukemia in a child associated with a NUP98‐NSD1 fusion and NRAS p.Gly61Arg mutation
title_full Mixed phenotype acute leukemia in a child associated with a NUP98‐NSD1 fusion and NRAS p.Gly61Arg mutation
title_fullStr Mixed phenotype acute leukemia in a child associated with a NUP98‐NSD1 fusion and NRAS p.Gly61Arg mutation
title_full_unstemmed Mixed phenotype acute leukemia in a child associated with a NUP98‐NSD1 fusion and NRAS p.Gly61Arg mutation
title_short Mixed phenotype acute leukemia in a child associated with a NUP98‐NSD1 fusion and NRAS p.Gly61Arg mutation
title_sort mixed phenotype acute leukemia in a child associated with a nup98‐nsd1 fusion and nras p.gly61arg mutation
topic Case Reports
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8388158/
https://www.ncbi.nlm.nih.gov/pubmed/33784031
http://dx.doi.org/10.1002/cnr2.1372
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