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

• Published in: Internal Medicine Vol. 62; no. 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: Journal Article
• Language: English
• Published: Japan The Japanese Society of Internal Medicine 01-05-2023; Japan Science and Technology Agency
• 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; NRAS; acute promyelocytic leukemia (APL); acute promyelocytic-like leukemia (APL-like); myelodysplastic syndrome (MDS); retinoic acid receptor α (RARA) translocation-negative APL
• ISSN: 0918-2918; 1349-7235
• DOI: 10.2169/internalmedicine.0174-22

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.