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- Hideaki Goto, Kimikazu Yakushijin, Yoko Adachi, Hisayuki Matsumoto, Katsuya Yamamoto, Sakuya Matsumoto, Tomoe Yamashita, Ako Higashime, Koji Kawaguchi, Keiji Kurata, Hiroshi Matsuoka, and Hironobu Minami.
- Department of Medical Oncology and Hematology, Kobe University Hospital, Japan.
- Intern. Med. 2023 May 1; 62 (9): 132913341329-1334.
AbstractAn 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.
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