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

Hideaki Goto; Kimikazu Yakushijin; Yoko Adachi; Hisayuki Matsumoto; Katsuya Yamamoto; Sakuya Matsumoto; Tomoe Yamashita; Ako Higashime; Koji Kawaguchi; Keiji Kurata; Hiroshi Matsuoka; Hironobu Minami

doi:10.2169/internalmedicine.0174-22

CASE REPORTS

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

Hideaki Goto, Kimikazu Yakushijin, Yoko Adachi, Hisayuki Matsumoto, Katsuya Yamamoto, Sakuya Matsumoto, Tomoe Yamashita, Ako Higashime, Koji Kawaguchi, Keiji Kurata, Hiroshi Matsuoka, Hironobu Minami

Author information

Hideaki Goto
Department of Medical Oncology and Hematology, Kobe University Hospital, Japan
Department of Oncology and Hematology, Hyogo Prefectural Harima-Himeji General Medical Center, Japan
Department of Internal Medicine, JCHO Kobe Central Hospital, Japan
Kimikazu Yakushijin
Department of Medical Oncology and Hematology, Kobe University Hospital, Japan
Yoko Adachi
Department of Internal Medicine, JCHO Kobe Central Hospital, Japan
Hisayuki Matsumoto
Department of Clinical Laboratory, Kobe University Hospital, Japan
Katsuya Yamamoto
Department of Medical Oncology and Hematology, Kobe University Hospital, Japan
Sakuya Matsumoto
Department of Medical Oncology and Hematology, Kobe University Hospital, Japan
Tomoe Yamashita
Department of Clinical Laboratory, Kobe University Hospital, Japan
Ako Higashime
Department of Medical Oncology and Hematology, Kobe University Hospital, Japan
Koji Kawaguchi
Department of Medical Oncology and Hematology, Kobe University Hospital, Japan
Keiji Kurata
Department of Medical Oncology and Hematology, Kobe University Hospital, Japan
Hiroshi Matsuoka
Department of Medical Oncology and Hematology, Kobe University Hospital, Japan
Hironobu Minami
Department of Medical Oncology and Hematology, Kobe University Hospital, Japan

Keywords: acute promyelocytic leukemia (APL), retinoic acid receptor α (RARA) translocation-negative APL, acute promyelocytic-like leukemia (APL-like), myelodysplastic syndrome (MDS), NRAS

JOURNAL OPEN ACCESS

2023 Volume 62 Issue 9 Pages 1329-1334

DOI https://doi.org/10.2169/internalmedicine.0174-22

Browse “Advance online publication” version

Details

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.

Corresponding author

Register with J-STAGE for free!