PAX5 alterations in an infant case of KMT2A‐rearranged leukemia with lineage switch |
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| Authors: | Koji Nakajima Hirohito Kubota Itaru Kato Kiyotaka Isobe Hiroo Ueno Kagehiro Kozuki Kuniaki Tanaka Naoko Kawabata Takashi Mikami Kosuke Tamefusa Ritsuo Nishiuchi Satoshi Saida Katsutsugu Umeda Hidefumi Hiramatsu Souichi Adachi Junko Takita |
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| Affiliation: | 1. Department of Pediatrics, Graduate School of Medicine, Kyoto University, Kyoto Japan ; 2. Department of Pediatrics, Kochi Health Sciences Center, Kochi Japan ; 3. Department of Human Health Sciences, Graduate School of Medicine, Kyoto University, Kyoto Japan |
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| Abstract: | ![]()
Lineage switch is a rare event at leukemic relapse. While mostly known to occur in KMT2A‐rearranged infant leukemia, the underlying mechanism is yet to be depicted. This case report describes a female infant who achieved remission of KMT2A‐MLLT3‐rearranged acute monocytic leukemia, but 6 months thereafter, relapsed as KMT2A‐MLLT3‐rearranged acute lymphocytic leukemia. Whole exome sequencing of the bone marrow obtained pre‐post lineage switch revealed two somatic mutations of PAX5 in the relapse sample. These two PAX5 alterations were suggested to be loss of function, thus to have played the driver role in the lineage switch from acute monocytic leukemia to acute lymphocytic leukemia. |
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| Keywords: | infant leukemia KMT2A rearrangement lineage switch PAX5 whole exome sequencing |
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