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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Bibliographic Details
Published in:Internal Medicine 2023/05/01, Vol.62(9), pp.1329-1334
Main Authors: Goto, Hideaki, Yakushijin, Kimikazu, Adachi, Yoko, Matsumoto, Hisayuki, Yamamoto, Katsuya, Matsumoto, Sakuya, Yamashita, Tomoe, Higashime, Ako, Kawaguchi, Koji, Kurata, Keiji, Matsuoka, Hiroshi, Minami, Hironobu
Format: Article
Language:English
Subjects:
acute promyelocytic leukemia (APL)
acute promyelocytic-like leukemia (APL-like)
Acute promyeloid leukemia
Aged
Case Report
Genomes
Granulocyte Precursor Cells - pathology
GTP Phosphohydrolases - genetics
Humans
Internal medicine
Leukemia, Promyelocytic, Acute - complications
Leukemia, Promyelocytic, Acute - diagnosis
Leukemia, Promyelocytic, Acute - genetics
Male
Membrane Proteins - genetics
Missense mutation
Mutation
Mutation - genetics
Myelodysplastic syndrome
myelodysplastic syndrome (MDS)
Myelodysplastic Syndromes - complications
Myelodysplastic Syndromes - genetics
NRAS
Pancytopenia
Promyeloid leukemia
retinoic acid receptor α (RARA) translocation-negative APL
Translocation, Genetic
Whole genome sequencing
Citations: Items that this one cites
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Description
Summary: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.
ISSN:0918-2918
1349-7235
DOI:10.2169/internalmedicine.0174-22