A rare CALR exon 9 mutation p.E379Vfs*53 in AYA generation exhibits gain-of-function nature and can induce essential thrombocythemia; a case report

A rare CALR exon 9 mutation p.E379Vfs*53 in AYA generation exhibits gain-of-function nature and can induce essential thrombocythemia; a case report

Objectives Current therapeutic strategies for essential thrombocythemia (ET) are mainly considered to prevent thrombo-hemorrhagic events, without increasing the rate of fibrotic progression or leukemic evolution. To treat the patients appropriately, the precise diagnosis of ET is essential. Although...

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Main Authors: Keiki Nagaharu, Ryoichi Ono, Eri Nakano, Akihide Nakamura, Rukia Iwayama, Makoto Ikejiri, Koji Oka, Kohshi Ohishi, Tetsuya Nosaka, Isao Tawara, Yuka Sugimoto
Format: Article
Language:English
Published: Taylor & Francis Group 2025-12-01
Series:Hematology
Subjects:
Essential thrombocythemia
CALR mutation
calreticulin
Online Access:https://www.tandfonline.com/doi/10.1080/16078454.2025.2513190
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https://www.tandfonline.com/doi/10.1080/16078454.2025.2513190

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