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PMID: 36130886 Published · ppublish English

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

Internal medicine (Tokyo, Japan) ·Vol. 62 ·No. 9 ·2023-05-01

Goto H, Yakushijin K, Adachi Y, Matsumoto H, Yamamoto K, Matsumoto S, Yamashita T, Higashime A, Kawaguchi K, Kurata K, Matsuoka H, Minami H

Abstract

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.

Keywords
NRAS acute promyelocytic leukemia (APL) acute promyelocytic-like leukemia (APL-like) myelodysplastic syndrome (MDS) retinoic acid receptor α (RARA) translocation-negative APL
MeSH 主题词
Aged Humans Male Granulocyte Precursor Cells/pathology GTP Phosphohydrolases/genetics Leukemia, Promyelocytic, Acute/complications,diagnosis,genetics Membrane Proteins/genetics Mutation/genetics Myelodysplastic Syndromes/complications,genetics Translocation, Genetic Retinoic Acid Receptor alpha
Article Info
Journal
Internal medicine (Tokyo, Japan)
Abbr.
Intern Med
ISSN
1349-7235
Published
2023-05-01
Language
English
Country/Region
Japan
NLM ID
9204241
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