Cargando…
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...
Autores principales: | , , , , , , , , , , , |
---|---|
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 |
_version_ | 1785046740864335872 |
---|---|
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. |
format | Online Article Text |
id | pubmed-10208773 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2022 |
publisher | The Japanese Society of Internal Medicine |
record_format | MEDLINE/PubMed |
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 |
work_keys_str_mv | AT gotohideaki apathogenicnrasc38gapg13dmutationinraratranslocationnegativeacutepromyelocyticlikeleukemiawithconcomitantmyelodysplasticsyndrome AT yakushijinkimikazu apathogenicnrasc38gapg13dmutationinraratranslocationnegativeacutepromyelocyticlikeleukemiawithconcomitantmyelodysplasticsyndrome AT adachiyoko apathogenicnrasc38gapg13dmutationinraratranslocationnegativeacutepromyelocyticlikeleukemiawithconcomitantmyelodysplasticsyndrome AT matsumotohisayuki apathogenicnrasc38gapg13dmutationinraratranslocationnegativeacutepromyelocyticlikeleukemiawithconcomitantmyelodysplasticsyndrome AT yamamotokatsuya apathogenicnrasc38gapg13dmutationinraratranslocationnegativeacutepromyelocyticlikeleukemiawithconcomitantmyelodysplasticsyndrome AT matsumotosakuya apathogenicnrasc38gapg13dmutationinraratranslocationnegativeacutepromyelocyticlikeleukemiawithconcomitantmyelodysplasticsyndrome AT yamashitatomoe apathogenicnrasc38gapg13dmutationinraratranslocationnegativeacutepromyelocyticlikeleukemiawithconcomitantmyelodysplasticsyndrome AT higashimeako apathogenicnrasc38gapg13dmutationinraratranslocationnegativeacutepromyelocyticlikeleukemiawithconcomitantmyelodysplasticsyndrome AT kawaguchikoji apathogenicnrasc38gapg13dmutationinraratranslocationnegativeacutepromyelocyticlikeleukemiawithconcomitantmyelodysplasticsyndrome AT kuratakeiji apathogenicnrasc38gapg13dmutationinraratranslocationnegativeacutepromyelocyticlikeleukemiawithconcomitantmyelodysplasticsyndrome AT matsuokahiroshi apathogenicnrasc38gapg13dmutationinraratranslocationnegativeacutepromyelocyticlikeleukemiawithconcomitantmyelodysplasticsyndrome AT minamihironobu apathogenicnrasc38gapg13dmutationinraratranslocationnegativeacutepromyelocyticlikeleukemiawithconcomitantmyelodysplasticsyndrome AT gotohideaki pathogenicnrasc38gapg13dmutationinraratranslocationnegativeacutepromyelocyticlikeleukemiawithconcomitantmyelodysplasticsyndrome AT yakushijinkimikazu pathogenicnrasc38gapg13dmutationinraratranslocationnegativeacutepromyelocyticlikeleukemiawithconcomitantmyelodysplasticsyndrome AT adachiyoko pathogenicnrasc38gapg13dmutationinraratranslocationnegativeacutepromyelocyticlikeleukemiawithconcomitantmyelodysplasticsyndrome AT matsumotohisayuki pathogenicnrasc38gapg13dmutationinraratranslocationnegativeacutepromyelocyticlikeleukemiawithconcomitantmyelodysplasticsyndrome AT yamamotokatsuya pathogenicnrasc38gapg13dmutationinraratranslocationnegativeacutepromyelocyticlikeleukemiawithconcomitantmyelodysplasticsyndrome AT matsumotosakuya pathogenicnrasc38gapg13dmutationinraratranslocationnegativeacutepromyelocyticlikeleukemiawithconcomitantmyelodysplasticsyndrome AT yamashitatomoe pathogenicnrasc38gapg13dmutationinraratranslocationnegativeacutepromyelocyticlikeleukemiawithconcomitantmyelodysplasticsyndrome AT higashimeako pathogenicnrasc38gapg13dmutationinraratranslocationnegativeacutepromyelocyticlikeleukemiawithconcomitantmyelodysplasticsyndrome AT kawaguchikoji pathogenicnrasc38gapg13dmutationinraratranslocationnegativeacutepromyelocyticlikeleukemiawithconcomitantmyelodysplasticsyndrome AT kuratakeiji pathogenicnrasc38gapg13dmutationinraratranslocationnegativeacutepromyelocyticlikeleukemiawithconcomitantmyelodysplasticsyndrome AT matsuokahiroshi pathogenicnrasc38gapg13dmutationinraratranslocationnegativeacutepromyelocyticlikeleukemiawithconcomitantmyelodysplasticsyndrome AT minamihironobu pathogenicnrasc38gapg13dmutationinraratranslocationnegativeacutepromyelocyticlikeleukemiawithconcomitantmyelodysplasticsyndrome |