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A Pathogenic NRAS c.38G>A (p.G13D) Mutation in RARA Translocation-negative Acute Promyelocytic-like Leukemia with Concomitant Myelodysplastic Syndrome

An acute promyelocytic leukemia (APL) patient not demonstrating the retinoic acid receptor α (RARA) translocation is rare. A 76-year-old man was diagnosed with myelodysplastic syndrome (MDS). After a year, abnormal promyelocytes were detected with pancytopenia and disseminated intravascular coagulop...

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Autores principales: Goto, Hideaki, Yakushijin, Kimikazu, Adachi, Yoko, Matsumoto, Hisayuki, Yamamoto, Katsuya, Matsumoto, Sakuya, Yamashita, Tomoe, Higashime, Ako, Kawaguchi, Koji, Kurata, Keiji, Matsuoka, Hiroshi, Minami, Hironobu
Formato: Online Artículo Texto
Lenguaje:English
Publicado: The Japanese Society of Internal Medicine 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10208773/
https://www.ncbi.nlm.nih.gov/pubmed/36130886
http://dx.doi.org/10.2169/internalmedicine.0174-22
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author Goto, Hideaki
Yakushijin, Kimikazu
Adachi, Yoko
Matsumoto, Hisayuki
Yamamoto, Katsuya
Matsumoto, Sakuya
Yamashita, Tomoe
Higashime, Ako
Kawaguchi, Koji
Kurata, Keiji
Matsuoka, Hiroshi
Minami, Hironobu
author_facet Goto, Hideaki
Yakushijin, Kimikazu
Adachi, Yoko
Matsumoto, Hisayuki
Yamamoto, Katsuya
Matsumoto, Sakuya
Yamashita, Tomoe
Higashime, Ako
Kawaguchi, Koji
Kurata, Keiji
Matsuoka, Hiroshi
Minami, Hironobu
author_sort Goto, Hideaki
collection PubMed
description An acute promyelocytic leukemia (APL) patient not demonstrating the retinoic acid receptor α (RARA) translocation is rare. A 76-year-old man was diagnosed with myelodysplastic syndrome (MDS). After a year, abnormal promyelocytes were detected with pancytopenia and disseminated intravascular coagulopathy. Morphologically, the patient was diagnosed with APL; however, a genetic examination failed to detect RARA translocation. Thereafter, whole-genome sequencing revealed an NRAS missense mutation [c.38G>A (p.G13D)]. This mutation was not detected in posttreatment bone marrow aspirate, despite residual MDS. Few reports are available on similar cases. Furthermore, the NRAS c.38G>A mutation may be a novel pathogenic variant exacerbating RARA translocation-negative acute promyelocytic-like leukemia.
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spelling pubmed-102087732023-05-25 A Pathogenic NRAS c.38G>A (p.G13D) Mutation in RARA Translocation-negative Acute Promyelocytic-like Leukemia with Concomitant Myelodysplastic Syndrome Goto, Hideaki Yakushijin, Kimikazu Adachi, Yoko Matsumoto, Hisayuki Yamamoto, Katsuya Matsumoto, Sakuya Yamashita, Tomoe Higashime, Ako Kawaguchi, Koji Kurata, Keiji Matsuoka, Hiroshi Minami, Hironobu Intern Med Case Report An acute promyelocytic leukemia (APL) patient not demonstrating the retinoic acid receptor α (RARA) translocation is rare. A 76-year-old man was diagnosed with myelodysplastic syndrome (MDS). After a year, abnormal promyelocytes were detected with pancytopenia and disseminated intravascular coagulopathy. Morphologically, the patient was diagnosed with APL; however, a genetic examination failed to detect RARA translocation. Thereafter, whole-genome sequencing revealed an NRAS missense mutation [c.38G>A (p.G13D)]. This mutation was not detected in posttreatment bone marrow aspirate, despite residual MDS. Few reports are available on similar cases. Furthermore, the NRAS c.38G>A mutation may be a novel pathogenic variant exacerbating RARA translocation-negative acute promyelocytic-like leukemia. The Japanese Society of Internal Medicine 2022-09-21 2023-05-01 /pmc/articles/PMC10208773/ /pubmed/36130886 http://dx.doi.org/10.2169/internalmedicine.0174-22 Text en Copyright © 2023 by The Japanese Society of Internal Medicine https://creativecommons.org/licenses/by-nc-nd/4.0/The Internal Medicine is an Open Access journal distributed under the Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 International License. To view the details of this license, please visit (https://creativecommons.org/licenses/by-nc-nd/4.0/).
spellingShingle Case Report
Goto, Hideaki
Yakushijin, Kimikazu
Adachi, Yoko
Matsumoto, Hisayuki
Yamamoto, Katsuya
Matsumoto, Sakuya
Yamashita, Tomoe
Higashime, Ako
Kawaguchi, Koji
Kurata, Keiji
Matsuoka, Hiroshi
Minami, Hironobu
A Pathogenic NRAS c.38G>A (p.G13D) Mutation in RARA Translocation-negative Acute Promyelocytic-like Leukemia with Concomitant Myelodysplastic Syndrome
title A Pathogenic NRAS c.38G>A (p.G13D) Mutation in RARA Translocation-negative Acute Promyelocytic-like Leukemia with Concomitant Myelodysplastic Syndrome
title_full A Pathogenic NRAS c.38G>A (p.G13D) Mutation in RARA Translocation-negative Acute Promyelocytic-like Leukemia with Concomitant Myelodysplastic Syndrome
title_fullStr A Pathogenic NRAS c.38G>A (p.G13D) Mutation in RARA Translocation-negative Acute Promyelocytic-like Leukemia with Concomitant Myelodysplastic Syndrome
title_full_unstemmed A Pathogenic NRAS c.38G>A (p.G13D) Mutation in RARA Translocation-negative Acute Promyelocytic-like Leukemia with Concomitant Myelodysplastic Syndrome
title_short A Pathogenic NRAS c.38G>A (p.G13D) Mutation in RARA Translocation-negative Acute Promyelocytic-like Leukemia with Concomitant Myelodysplastic Syndrome
title_sort pathogenic nras c.38g>a (p.g13d) mutation in rara translocation-negative acute promyelocytic-like leukemia with concomitant myelodysplastic syndrome
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10208773/
https://www.ncbi.nlm.nih.gov/pubmed/36130886
http://dx.doi.org/10.2169/internalmedicine.0174-22
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